Genetics: 2016

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Genetic Topics

1p36 deletion syndrome
PubMed Articles | EuropePMC Articles | Clinical Trials

chromosome 1p36 deletion syndrome
PubMed Articles | EuropePMC Articles | Clinical Trials

distal monosomy 1p36
PubMed Articles | EuropePMC Articles | Clinical Trials

monosomy 1p36 syndrome
PubMed Articles | EuropePMC Articles | Clinical Trials

1q21.1 microdeletion
PubMed Articles | EuropePMC Articles | Clinical Trials

1q21.1 contiguous gene deletion
PubMed Articles | EuropePMC Articles | Clinical Trials

1q21.1 deletion
PubMed Articles | EuropePMC Articles | Clinical Trials

chromosome 1q21.1 deletion syndrome
PubMed Articles | EuropePMC Articles | Clinical Trials

chromosome 1q21.1 deletion syndrome, 1.35-Mb
PubMed Articles | EuropePMC Articles | Clinical Trials

1q21.1 microduplication
PubMed Articles | EuropePMC Articles | Clinical Trials

1q21.1 duplication
PubMed Articles | EuropePMC Articles | Clinical Trials

1q21.1 duplication syndrome
PubMed Articles | EuropePMC Articles | Clinical Trials

2-hydroxyglutaric aciduria
PubMed Articles | EuropePMC Articles | Clinical Trials

2-HGA
PubMed Articles | EuropePMC Articles | Clinical Trials

2-methylbutyryl-CoA dehydrogenase deficiency
PubMed Articles | EuropePMC Articles | Clinical Trials

2-MBADD
PubMed Articles | EuropePMC Articles | Clinical Trials

2-MBCD deficiency
PubMed Articles | EuropePMC Articles | Clinical Trials

2-MBG
PubMed Articles | EuropePMC Articles | Clinical Trials

2-methylbutyryl glycinuria
PubMed Articles | EuropePMC Articles | Clinical Trials

2-methylbutyryl-coenzyme A dehydrogenase deficiency
PubMed Articles | EuropePMC Articles | Clinical Trials

SBCADD
PubMed Articles | EuropePMC Articles | Clinical Trials

short/branched-chain acyl-CoA dehydrogenase deficiency
PubMed Articles | EuropePMC Articles | Clinical Trials

2q37 deletion syndrome
PubMed Articles | EuropePMC Articles | Clinical Trials

Albright hereditary osteodystrophy-like syndrome
PubMed Articles | EuropePMC Articles | Clinical Trials

brachydactyly-mental retardation syndrome
PubMed Articles | EuropePMC Articles | Clinical Trials

3-beta-hydroxysteroid dehydrogenase deficiency
PubMed Articles | EuropePMC Articles | Clinical Trials

3 beta-HSD deficiency
PubMed Articles | EuropePMC Articles | Clinical Trials

3 beta-ol dehydrogenase deficiency
PubMed Articles | EuropePMC Articles | Clinical Trials

3b-hydroxysteroid dehydrogenase deficiency
PubMed Articles | EuropePMC Articles | Clinical Trials

3β-HSD deficiency
PubMed Articles | EuropePMC Articles | Clinical Trials

3β-HSD deficiency congenital adrenal hyperplasia
PubMed Articles | EuropePMC Articles | Clinical Trials

3β-hydroxysteroid dehydrogenase deficiency
PubMed Articles | EuropePMC Articles | Clinical Trials

type II 3β-hydroxysteroid dehydrogenase deficiency
PubMed Articles | EuropePMC Articles | Clinical Trials

3-hydroxy-3-methylglutaryl-CoA lyase deficiency
PubMed Articles | EuropePMC Articles | Clinical Trials

3-OH 3-CH3 glutaric aciduria
PubMed Articles | EuropePMC Articles | Clinical Trials

3-OH 3-methyl glutaric aciduria
PubMed Articles | EuropePMC Articles | Clinical Trials

3-hydroxy-3-methylglutaryl-coenzyme A lyase deficiency
PubMed Articles | EuropePMC Articles | Clinical Trials

3HMG
PubMed Articles | EuropePMC Articles | Clinical Trials

Deficiency of hydroxymethylglutaryl-CoA lyase
PubMed Articles | EuropePMC Articles | Clinical Trials

HMG
PubMed Articles | EuropePMC Articles | Clinical Trials

HMG-CoA lyase deficiency
PubMed Articles | EuropePMC Articles | Clinical Trials

Hydroxymethylglutaric aciduria
PubMed Articles | EuropePMC Articles | Clinical Trials

3-hydroxyacyl-CoA dehydrogenase deficiency
PubMed Articles | EuropePMC Articles | Clinical Trials

3-alpha-hydroxyacyl-coenzyme A dehydrogenase deficiency
PubMed Articles | EuropePMC Articles | Clinical Trials

3-hydroxyacyl-coenzyme A dehydrogenase deficiency
PubMed Articles | EuropePMC Articles | Clinical Trials

HAD deficiency
PubMed Articles | EuropePMC Articles | Clinical Trials

HADH deficiency
PubMed Articles | EuropePMC Articles | Clinical Trials

HADHSC deficiency
PubMed Articles | EuropePMC Articles | Clinical Trials

L-3-alpha-hydroxyacyl-CoA dehydrogenase, short chain, deficiency
PubMed Articles | EuropePMC Articles | Clinical Trials

M/SCHAD deficiency
PubMed Articles | EuropePMC Articles | Clinical Trials

SCHAD deficiency
PubMed Articles | EuropePMC Articles | Clinical Trials

deficiency of 3-hydroxyacyl-CoA dehydrogenase
PubMed Articles | EuropePMC Articles | Clinical Trials

3-M syndrome
PubMed Articles | EuropePMC Articles | Clinical Trials

3-MSBN
PubMed Articles | EuropePMC Articles | Clinical Trials

Le Merrer syndrome
PubMed Articles | EuropePMC Articles | Clinical Trials

Yakut short stature syndrome
PubMed Articles | EuropePMC Articles | Clinical Trials

dolichospondylic dysplasia
PubMed Articles | EuropePMC Articles | Clinical Trials

three M syndrome
PubMed Articles | EuropePMC Articles | Clinical Trials

three-M slender-boned nanism
PubMed Articles | EuropePMC Articles | Clinical Trials

3-methylcrotonyl-CoA carboxylase deficiency
PubMed Articles | EuropePMC Articles | Clinical Trials

3-MCC
PubMed Articles | EuropePMC Articles | Clinical Trials

3-MCC deficiency
PubMed Articles | EuropePMC Articles | Clinical Trials

3-methylcrotonyl-coenzyme A carboxylase deficiency
PubMed Articles | EuropePMC Articles | Clinical Trials

3-methylcrotonylglycinuria
PubMed Articles | EuropePMC Articles | Clinical Trials

3MCC
PubMed Articles | EuropePMC Articles | Clinical Trials

BMCC deficiency
PubMed Articles | EuropePMC Articles | Clinical Trials

Deficiency of methylcrotonoyl-CoA carboxylase
PubMed Articles | EuropePMC Articles | Clinical Trials

MCC deficiency
PubMed Articles | EuropePMC Articles | Clinical Trials

Methylcrotonyl-CoA carboxylase deficiency
PubMed Articles | EuropePMC Articles | Clinical Trials

3-methylglutaconyl-CoA hydratase deficiency
PubMed Articles | EuropePMC Articles | Clinical Trials

3-MG-CoA-hydratase deficiency
PubMed Articles | EuropePMC Articles | Clinical Trials

3-methylglutaconic aciduria, type I
PubMed Articles | EuropePMC Articles | Clinical Trials

AUH defect
PubMed Articles | EuropePMC Articles | Clinical Trials

MGA, type I
PubMed Articles | EuropePMC Articles | Clinical Trials

MGA1
PubMed Articles | EuropePMC Articles | Clinical Trials

MGCA1
PubMed Articles | EuropePMC Articles | Clinical Trials

primary 3-methylglutaconic aciduria
PubMed Articles | EuropePMC Articles | Clinical Trials

3MC syndrome
PubMed Articles | EuropePMC Articles | Clinical Trials

Carnevale syndrome
PubMed Articles | EuropePMC Articles | Clinical Trials

Carnevale-Krajewska-Fischetto syndrome
PubMed Articles | EuropePMC Articles | Clinical Trials

Malpuech facial clefting syndrome
PubMed Articles | EuropePMC Articles | Clinical Trials

Malpuech syndrome
PubMed Articles | EuropePMC Articles | Clinical Trials

Michels syndrome
PubMed Articles | EuropePMC Articles | Clinical Trials

Mingarelli syndrome
PubMed Articles | EuropePMC Articles | Clinical Trials

OSA syndrome
PubMed Articles | EuropePMC Articles | Clinical Trials

craniofacial-ulnar-renal syndrome
PubMed Articles | EuropePMC Articles | Clinical Trials

craniosynostosis with lid anomalies
PubMed Articles | EuropePMC Articles | Clinical Trials

oculo-skeletal-abdominal syndrome
PubMed Articles | EuropePMC Articles | Clinical Trials

oculopalatoskeletal syndrome
PubMed Articles | EuropePMC Articles | Clinical Trials

ptosis of eyelids with diastasis recti and hip dysplasia
PubMed Articles | EuropePMC Articles | Clinical Trials

ptosis-strabismus-rectus addominis diastasis
PubMed Articles | EuropePMC Articles | Clinical Trials

5-alpha reductase deficiency
PubMed Articles | EuropePMC Articles | Clinical Trials

Familial incomplete male pseudohermaphroditism, type 2
PubMed Articles | EuropePMC Articles | Clinical Trials

PPSH
PubMed Articles | EuropePMC Articles | Clinical Trials

Pseudovaginal perineoscrotal hypospadias
PubMed Articles | EuropePMC Articles | Clinical Trials

Steroid 5-alpha-reductase deficiency
PubMed Articles | EuropePMC Articles | Clinical Trials

male pseudohermaphroditism due to 5-alpha-reductase deficiency
PubMed Articles | EuropePMC Articles | Clinical Trials

5q minus syndrome
PubMed Articles | EuropePMC Articles | Clinical Trials

5q- syndrome
PubMed Articles | EuropePMC Articles | Clinical Trials

chromosome 5q deletion syndrome
PubMed Articles | EuropePMC Articles | Clinical Trials

myelodysplastic syndrome associated with isolated del(5q) chromosome abnormality
PubMed Articles | EuropePMC Articles | Clinical Trials

myelodysplastic syndrome with 5q deletion
PubMed Articles | EuropePMC Articles | Clinical Trials

myelodysplastic syndrome with 5q deletion syndrome
PubMed Articles | EuropePMC Articles | Clinical Trials

refractory macrocytic anemia due to 5q deletion
PubMed Articles | EuropePMC Articles | Clinical Trials

6q24-related transient neonatal diabetes mellitus
PubMed Articles | EuropePMC Articles | Clinical Trials

6q24-TNDM
PubMed Articles | EuropePMC Articles | Clinical Trials

TNDM type 1
PubMed Articles | EuropePMC Articles | Clinical Trials

transient neonatal diabetes mellitus 1
PubMed Articles | EuropePMC Articles | Clinical Trials

8p11 myeloproliferative syndrome
PubMed Articles | EuropePMC Articles | Clinical Trials

8p11 stem cell leukemia/lymphoma syndrome
PubMed Articles | EuropePMC Articles | Clinical Trials

8p11 stem cell syndrome
PubMed Articles | EuropePMC Articles | Clinical Trials

myeloid and lymphoid neoplasms with FGFR1 abnormalities
PubMed Articles | EuropePMC Articles | Clinical Trials

stem cell leukemia/lymphoma
PubMed Articles | EuropePMC Articles | Clinical Trials

9q22.3 microdeletion
PubMed Articles | EuropePMC Articles | Clinical Trials

9q22 deletion syndrome
PubMed Articles | EuropePMC Articles | Clinical Trials

9q22.3 deletion
PubMed Articles | EuropePMC Articles | Clinical Trials

microdeletion 9q22.3 syndrome
PubMed Articles | EuropePMC Articles | Clinical Trials

15q13.3 microdeletion
PubMed Articles | EuropePMC Articles | Clinical Trials

15q13.3 microdeletion syndrome
PubMed Articles | EuropePMC Articles | Clinical Trials

chromosome 15q13.3 deletion syndrome
PubMed Articles | EuropePMC Articles | Clinical Trials

15q24 microdeletion
PubMed Articles | EuropePMC Articles | Clinical Trials

15q24 deletion
PubMed Articles | EuropePMC Articles | Clinical Trials

15q24 microdeletion syndrome
PubMed Articles | EuropePMC Articles | Clinical Trials

interstitial deletion of chromosome 15q24
PubMed Articles | EuropePMC Articles | Clinical Trials

16p11.2 deletion syndrome
PubMed Articles | EuropePMC Articles | Clinical Trials

AUTS14A
PubMed Articles | EuropePMC Articles | Clinical Trials

autism, susceptibility to, 14A
PubMed Articles | EuropePMC Articles | Clinical Trials

16p11.2 duplication
PubMed Articles | EuropePMC Articles | Clinical Trials

16p11.2 duplication syndrome
PubMed Articles | EuropePMC Articles | Clinical Trials

16p11.2 microduplication
PubMed Articles | EuropePMC Articles | Clinical Trials

AUTS14B
PubMed Articles | EuropePMC Articles | Clinical Trials

autism, susceptibility to, 14B
PubMed Articles | EuropePMC Articles | Clinical Trials

17-beta hydroxysteroid dehydrogenase 3 deficiency
PubMed Articles | EuropePMC Articles | Clinical Trials

17-KSR deficiency
PubMed Articles | EuropePMC Articles | Clinical Trials

17-beta hydroxysteroid dehydrogenase III deficiency
PubMed Articles | EuropePMC Articles | Clinical Trials

17-ketosteroid reductase deficiency of testis
PubMed Articles | EuropePMC Articles | Clinical Trials

neutral 17-beta-hydroxysteroid oxidoreductase deficiency
PubMed Articles | EuropePMC Articles | Clinical Trials

pseudohermaphroditism, male, with gynecomastia
PubMed Articles | EuropePMC Articles | Clinical Trials

testosterone 17-beta-dehydrogenase deficiency
PubMed Articles | EuropePMC Articles | Clinical Trials

17β-hydroxysteroid dehydrogenase type 10 deficiency
PubMed Articles | EuropePMC Articles | Clinical Trials

2-methyl-3-hydroxybutyric aciduria
PubMed Articles | EuropePMC Articles | Clinical Trials

2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency
PubMed Articles | EuropePMC Articles | Clinical Trials

2M3HBA
PubMed Articles | EuropePMC Articles | Clinical Trials

3-hydroxy-2-methylbutyryl-CoA dehydrogenase deficiency
PubMed Articles | EuropePMC Articles | Clinical Trials

3H2MBD deficiency
PubMed Articles | EuropePMC Articles | Clinical Trials

HSD10 deficiency
PubMed Articles | EuropePMC Articles | Clinical Trials

MHBD deficiency
PubMed Articles | EuropePMC Articles | Clinical Trials

hydroxyacyl-CoA dehydrogenase II deficiency
PubMed Articles | EuropePMC Articles | Clinical Trials

18q deletion syndrome
PubMed Articles | EuropePMC Articles | Clinical Trials

18q- syndrome
PubMed Articles | EuropePMC Articles | Clinical Trials

De Grouchy syndrome
PubMed Articles | EuropePMC Articles | Clinical Trials

chromosome 18 long arm deletion syndrome
PubMed Articles | EuropePMC Articles | Clinical Trials

chromosome 18q deletion syndrome
PubMed Articles | EuropePMC Articles | Clinical Trials

chromosome 18q monosomy
PubMed Articles | EuropePMC Articles | Clinical Trials

chromosome 18q- syndrome
PubMed Articles | EuropePMC Articles | Clinical Trials

del(18q) syndrome
PubMed Articles | EuropePMC Articles | Clinical Trials

monosomy 18q
PubMed Articles | EuropePMC Articles | Clinical Trials

21-hydroxylase deficiency
PubMed Articles | EuropePMC Articles | Clinical Trials

CAH1
PubMed Articles | EuropePMC Articles | Clinical Trials

CYP21 deficiency
PubMed Articles | EuropePMC Articles | Clinical Trials

congenital adrenal hyperplasia 1
PubMed Articles | EuropePMC Articles | Clinical Trials

congenital adrenal hyperplasia due to 21 hydroxylase deficiency
PubMed Articles | EuropePMC Articles | Clinical Trials

22q11.2 deletion syndrome
PubMed Articles | EuropePMC Articles | Clinical Trials

22q11.2DS
PubMed Articles | EuropePMC Articles | Clinical Trials

CATCH22
PubMed Articles | EuropePMC Articles | Clinical Trials

Cayler cardiofacial syndrome
PubMed Articles | EuropePMC Articles | Clinical Trials

DiGeorge syndrome
PubMed Articles | EuropePMC Articles | Clinical Trials

Sedlackova syndrome
PubMed Articles | EuropePMC Articles | Clinical Trials

Shprintzen syndrome
PubMed Articles | EuropePMC Articles | Clinical Trials

VCFS
PubMed Articles | EuropePMC Articles | Clinical Trials

autosomal dominant Opitz G/BBB syndrome
PubMed Articles | EuropePMC Articles | Clinical Trials

conotruncal anomaly face syndrome (CTAF)
PubMed Articles | EuropePMC Articles | Clinical Trials

deletion 22q11.2 syndrome
PubMed Articles | EuropePMC Articles | Clinical Trials

velo-cardio-facial syndrome
PubMed Articles | EuropePMC Articles | Clinical Trials

velocardiofacial syndrome
PubMed Articles | EuropePMC Articles | Clinical Trials

22q11.2 duplication
PubMed Articles | EuropePMC Articles | Clinical Trials

chromosome 22q11.2 duplication syndrome
PubMed Articles | EuropePMC Articles | Clinical Trials

chromosome 22q11.2 microduplication syndrome
PubMed Articles | EuropePMC Articles | Clinical Trials

22q13.3 deletion syndrome
PubMed Articles | EuropePMC Articles | Clinical Trials

22q13 deletion syndrome
PubMed Articles | EuropePMC Articles | Clinical Trials

Phelan-McDermid syndrome
PubMed Articles | EuropePMC Articles | Clinical Trials

deletion 22q13 syndrome
PubMed Articles | EuropePMC Articles | Clinical Trials

deletion 22q13.3 syndrome
PubMed Articles | EuropePMC Articles | Clinical Trials

monosomy 22q13
PubMed Articles | EuropePMC Articles | Clinical Trials

46,XX testicular disorder of sex development
PubMed Articles | EuropePMC Articles | Clinical Trials

46,XX sex reversal
PubMed Articles | EuropePMC Articles | Clinical Trials

XX male syndrome
PubMed Articles | EuropePMC Articles | Clinical Trials

XX sex reversal
PubMed Articles | EuropePMC Articles | Clinical Trials

47,XYY syndrome
PubMed Articles | EuropePMC Articles | Clinical Trials

Jacob's syndrome
PubMed Articles | EuropePMC Articles | Clinical Trials

XYY Karyotype
PubMed Articles | EuropePMC Articles | Clinical Trials

XYY syndrome
PubMed Articles | EuropePMC Articles | Clinical Trials

YY syndrome
PubMed Articles | EuropePMC Articles | Clinical Trials

48,XXYY syndrome
PubMed Articles | EuropePMC Articles | Clinical Trials

XXYY syndrome
PubMed Articles | EuropePMC Articles | Clinical Trials

Aarskog-Scott syndrome
PubMed Articles | EuropePMC Articles | Clinical Trials

AAS
PubMed Articles | EuropePMC Articles | Clinical Trials

Aarskog syndrome
PubMed Articles | EuropePMC Articles | Clinical Trials

Facio-digito-genital dysplasia
PubMed Articles | EuropePMC Articles | Clinical Trials

Faciogenital dysplasia
PubMed Articles | EuropePMC Articles | Clinical Trials

abdominal wall defect
PubMed Articles | EuropePMC Articles | Clinical Trials

abdominal hernia
PubMed Articles | EuropePMC Articles | Clinical Trials

hernia, abdominal
PubMed Articles | EuropePMC Articles | Clinical Trials

abetalipoproteinemia
PubMed Articles | EuropePMC Articles | Clinical Trials

Abetalipoproteinemia neuropathy
PubMed Articles | EuropePMC Articles | Clinical Trials

Apolipoprotein B deficiency
PubMed Articles | EuropePMC Articles | Clinical Trials

Bassen-Kornzweig Syndrome
PubMed Articles | EuropePMC Articles | Clinical Trials

Betalipoprotein Deficiency Disease
PubMed Articles | EuropePMC Articles | Clinical Trials

Congenital betalipoprotein deficiency syndrome
PubMed Articles | EuropePMC Articles | Clinical Trials

Microsomal Triglyceride Transfer Protein Deficiency Disease
PubMed Articles | EuropePMC Articles | Clinical Trials

acanthocytosis
PubMed Articles | EuropePMC Articles | Clinical Trials

acatalasemia
PubMed Articles | EuropePMC Articles | Clinical Trials

acatalasia
PubMed Articles | EuropePMC Articles | Clinical Trials

catalase deficiency
PubMed Articles | EuropePMC Articles | Clinical Trials

aceruloplasminemia
PubMed Articles | EuropePMC Articles | Clinical Trials

deficiency of ferroxidase
PubMed Articles | EuropePMC Articles | Clinical Trials

familial apoceruloplasmin deficiency
PubMed Articles | EuropePMC Articles | Clinical Trials

hereditary ceruloplasmin deficiency
PubMed Articles | EuropePMC Articles | Clinical Trials

hypoceruloplasminemia
PubMed Articles | EuropePMC Articles | Clinical Trials

systemic hemosiderosis due to aceruloplasminemia
PubMed Articles | EuropePMC Articles | Clinical Trials

achondrogenesis
PubMed Articles | EuropePMC Articles | Clinical Trials

achondrogenesis syndrome
PubMed Articles | EuropePMC Articles | Clinical Trials

achondroplasia
PubMed Articles | EuropePMC Articles | Clinical Trials

ACH
PubMed Articles | EuropePMC Articles | Clinical Trials

achondroplastic dwarfism
PubMed Articles | EuropePMC Articles | Clinical Trials

dwarf, achondroplastic
PubMed Articles | EuropePMC Articles | Clinical Trials

achromatopsia
PubMed Articles | EuropePMC Articles | Clinical Trials

achromatism
PubMed Articles | EuropePMC Articles | Clinical Trials

rod monochromatism
PubMed Articles | EuropePMC Articles | Clinical Trials

total color blindness
PubMed Articles | EuropePMC Articles | Clinical Trials

acral peeling skin syndrome
PubMed Articles | EuropePMC Articles | Clinical Trials

APSS
PubMed Articles | EuropePMC Articles | Clinical Trials

peeling skin syndrome, acral type
PubMed Articles | EuropePMC Articles | Clinical Trials

acromicric dysplasia
PubMed Articles | EuropePMC Articles | Clinical Trials

ACMICD
PubMed Articles | EuropePMC Articles | Clinical Trials

actin-accumulation myopathy
PubMed Articles | EuropePMC Articles | Clinical Trials

actin filament aggregate myopathy
PubMed Articles | EuropePMC Articles | Clinical Trials

actin myopathy
PubMed Articles | EuropePMC Articles | Clinical Trials

congenital myopathy with excess of thin filaments
PubMed Articles | EuropePMC Articles | Clinical Trials

nemaline myopathy 3
PubMed Articles | EuropePMC Articles | Clinical Trials

activated PI3K-delta syndrome
PubMed Articles | EuropePMC Articles | Clinical Trials

APDS
PubMed Articles | EuropePMC Articles | Clinical Trials

PASLI
PubMed Articles | EuropePMC Articles | Clinical Trials

immunodeficiency 14
PubMed Articles | EuropePMC Articles | Clinical Trials

p110δ-activating mutation causing senescent T cells, lymphadenopathy, and immunodeficiency
PubMed Articles | EuropePMC Articles | Clinical Trials

acute promyelocytic leukemia
PubMed Articles | EuropePMC Articles | Clinical Trials

AML M3
PubMed Articles | EuropePMC Articles | Clinical Trials

APL
PubMed Articles | EuropePMC Articles | Clinical Trials

M3 ANLL
PubMed Articles | EuropePMC Articles | Clinical Trials

leukemia, acute promyelocytic
PubMed Articles | EuropePMC Articles | Clinical Trials

myeloid leukemia, acute, M3
PubMed Articles | EuropePMC Articles | Clinical Trials

Adams-Oliver syndrome
PubMed Articles | EuropePMC Articles | Clinical Trials

AOS
PubMed Articles | EuropePMC Articles | Clinical Trials

absence defect of limbs, scalp, and skull
PubMed Articles | EuropePMC Articles | Clinical Trials

aplasia cutis congenita with terminal transverse limb defects
PubMed Articles | EuropePMC Articles | Clinical Trials

congenital scalp defects with distal limb reduction anomalies
PubMed Articles | EuropePMC Articles | Clinical Trials

ADCY5-related dyskinesia
PubMed Articles | EuropePMC Articles | Clinical Trials

FDFM
PubMed Articles | EuropePMC Articles | Clinical Trials

familial dyskinesia with facial myokymia
PubMed Articles | EuropePMC Articles | Clinical Trials

adenine phosphoribosyltransferase deficiency
PubMed Articles | EuropePMC Articles | Clinical Trials

2,8-dihydroxyadenine urolithiasis
PubMed Articles | EuropePMC Articles | Clinical Trials

2,8-dihydroxyadeninuria
PubMed Articles | EuropePMC Articles | Clinical Trials

APRT deficiency
PubMed Articles | EuropePMC Articles | Clinical Trials

DHA crystalline nephropathy
PubMed Articles | EuropePMC Articles | Clinical Trials

adenosine deaminase 2 deficiency
PubMed Articles | EuropePMC Articles | Clinical Trials

ADA2 deficiency
PubMed Articles | EuropePMC Articles | Clinical Trials

DADA2
PubMed Articles | EuropePMC Articles | Clinical Trials

Sneddon syndrome
PubMed Articles | EuropePMC Articles | Clinical Trials

childhood-onset polyarteritis nodosa
PubMed Articles | EuropePMC Articles | Clinical Trials

deficiency of ADA2
PubMed Articles | EuropePMC Articles | Clinical Trials

adenosine deaminase deficiency
PubMed Articles | EuropePMC Articles | Clinical Trials

ADA deficiency
PubMed Articles | EuropePMC Articles | Clinical Trials

ADA-SCID
PubMed Articles | EuropePMC Articles | Clinical Trials

SCID due to ADA deficiency
PubMed Articles | EuropePMC Articles | Clinical Trials

adenosine deaminase deficient severe combined immunodeficiency
PubMed Articles | EuropePMC Articles | Clinical Trials

severe combined immunodeficiency due to ADA deficiency
PubMed Articles | EuropePMC Articles | Clinical Trials

severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency
PubMed Articles | EuropePMC Articles | Clinical Trials

adenosine monophosphate deaminase deficiency
PubMed Articles | EuropePMC Articles | Clinical Trials

AMP deaminase deficiency
PubMed Articles | EuropePMC Articles | Clinical Trials

MAD deficiency
PubMed Articles | EuropePMC Articles | Clinical Trials

MADA deficiency
PubMed Articles | EuropePMC Articles | Clinical Trials

exercise-induced myopathy
PubMed Articles | EuropePMC Articles | Clinical Trials

muscle AMP deaminase deficiency
PubMed Articles | EuropePMC Articles | Clinical Trials

myoadenylate deaminase deficiency
PubMed Articles | EuropePMC Articles | Clinical Trials

adenylosuccinate lyase deficiency
PubMed Articles | EuropePMC Articles | Clinical Trials

ADSL deficiency
PubMed Articles | EuropePMC Articles | Clinical Trials

adenylosuccinase deficiency
PubMed Articles | EuropePMC Articles | Clinical Trials

succinylpurinemic autism
PubMed Articles | EuropePMC Articles | Clinical Trials

adermatoglyphia
PubMed Articles | EuropePMC Articles | Clinical Trials

ADERM
PubMed Articles | EuropePMC Articles | Clinical Trials

ADG
PubMed Articles | EuropePMC Articles | Clinical Trials

absence of fingerprints
PubMed Articles | EuropePMC Articles | Clinical Trials

immigration delay disease
PubMed Articles | EuropePMC Articles | Clinical Trials

adiposis dolorosa
PubMed Articles | EuropePMC Articles | Clinical Trials

Anders syndrome
PubMed Articles | EuropePMC Articles | Clinical Trials

Dercum disease
PubMed Articles | EuropePMC Articles | Clinical Trials

Dercum's disease
PubMed Articles | EuropePMC Articles | Clinical Trials

Dercum-Vitaut syndrome
PubMed Articles | EuropePMC Articles | Clinical Trials

adiposalgia
PubMed Articles | EuropePMC Articles | Clinical Trials

adipose tissue rheumatism
PubMed Articles | EuropePMC Articles | Clinical Trials

lipomatosis dolorosa
PubMed Articles | EuropePMC Articles | Clinical Trials

morbus Dercum
PubMed Articles | EuropePMC Articles | Clinical Trials

adolescent idiopathic scoliosis
PubMed Articles | EuropePMC Articles | Clinical Trials

AIS
PubMed Articles | EuropePMC Articles | Clinical Trials

late onset idiopathic scoliosis
PubMed Articles | EuropePMC Articles | Clinical Trials

adult-onset leukoencephalopathy with axonal spheroids and pigmented glia
PubMed Articles | EuropePMC Articles | Clinical Trials

ALSP
PubMed Articles | EuropePMC Articles | Clinical Trials

hereditary diffuse leukoencephalopathy with axonal spheroids and pigmented glia
PubMed Articles | EuropePMC Articles | Clinical Trials

adult polyglucosan body disease
PubMed Articles | EuropePMC Articles | Clinical Trials

APBD
PubMed Articles | EuropePMC Articles | Clinical Trials

polyglucosan body disease, adult form
PubMed Articles | EuropePMC Articles | Clinical Trials

African iron overload
PubMed Articles | EuropePMC Articles | Clinical Trials

African hemochromatosis
PubMed Articles | EuropePMC Articles | Clinical Trials

African nutritional hemochromatosis
PubMed Articles | EuropePMC Articles | Clinical Trials

African siderosis
PubMed Articles | EuropePMC Articles | Clinical Trials

age-related macular degeneration
PubMed Articles | EuropePMC Articles | Clinical Trials

AMD
PubMed Articles | EuropePMC Articles | Clinical Trials

ARMD
PubMed Articles | EuropePMC Articles | Clinical Trials

age-related maculopathy
PubMed Articles | EuropePMC Articles | Clinical Trials

macular degeneration, age-related
PubMed Articles | EuropePMC Articles | Clinical Trials

Aicardi-Goutieres syndrome
PubMed Articles | EuropePMC Articles | Clinical Trials

AGS
PubMed Articles | EuropePMC Articles | Clinical Trials

Aicardi Goutieres syndrome
PubMed Articles | EuropePMC Articles | Clinical Trials

Cree encephalitis
PubMed Articles | EuropePMC Articles | Clinical Trials

encephalopathy with basal ganglia calcification
PubMed Articles | EuropePMC Articles | Clinical Trials

familial infantile encephalopathy with intracranial calcification and chronic cerebrospinal fluid lymphocytosis
PubMed Articles | EuropePMC Articles | Clinical Trials

pseudo-TORCH syndrome
PubMed Articles | EuropePMC Articles | Clinical Trials

pseudotoxoplasmosis syndrome
PubMed Articles | EuropePMC Articles | Clinical Trials

Aicardi syndrome
PubMed Articles | EuropePMC Articles | Clinical Trials

Aicardi's syndrome
PubMed Articles | EuropePMC Articles | Clinical Trials

agenesis of corpus callosum with chorioretinal abnormality
PubMed Articles | EuropePMC Articles | Clinical Trials

agenesis of corpus callosum with infantile spasms and ocular abnormalities
PubMed Articles | EuropePMC Articles | Clinical Trials

callosal agenesis and ocular abnormalities
PubMed Articles | EuropePMC Articles | Clinical Trials

chorioretinal anomalies with ACC
PubMed Articles | EuropePMC Articles | Clinical Trials

Alagille syndrome
PubMed Articles | EuropePMC Articles | Clinical Trials

Alagille's syndrome
PubMed Articles | EuropePMC Articles | Clinical Trials

Alagille-Watson Syndrome
PubMed Articles | EuropePMC Articles | Clinical Trials

Watson-Miller syndrome
PubMed Articles | EuropePMC Articles | Clinical Trials

arteriohepatic dysplasia (AHD)
PubMed Articles | EuropePMC Articles | Clinical Trials

cardiovertebral syndrome
PubMed Articles | EuropePMC Articles | Clinical Trials

cholestasis with peripheral pulmonary stenosis
PubMed Articles | EuropePMC Articles | Clinical Trials

hepatic ductular hypoplasia
PubMed Articles | EuropePMC Articles | Clinical Trials

hepatofacioneurocardiovertebral syndrome
PubMed Articles | EuropePMC Articles | Clinical Trials

paucity of interlobular bile ducts
PubMed Articles | EuropePMC Articles | Clinical Trials

Alexander disease
PubMed Articles | EuropePMC Articles | Clinical Trials

ALX
PubMed Articles | EuropePMC Articles | Clinical Trials

Alexander's disease
PubMed Articles | EuropePMC Articles | Clinical Trials

AxD
PubMed Articles | EuropePMC Articles | Clinical Trials

demyelinogenic leukodystrophy
PubMed Articles | EuropePMC Articles | Clinical Trials

dysmyelinogenic leukodystrophy
PubMed Articles | EuropePMC Articles | Clinical Trials

fibrinoid degeneration of astrocytes
PubMed Articles | EuropePMC Articles | Clinical Trials

leukodystrophy with Rosenthal fibers
PubMed Articles | EuropePMC Articles | Clinical Trials

ALG1-congenital disorder of glycosylation
PubMed Articles | EuropePMC Articles | Clinical Trials

ALG1-CDG
PubMed Articles | EuropePMC Articles | Clinical Trials

CDG1K
PubMed Articles | EuropePMC Articles | Clinical Trials

CDGIk
PubMed Articles | EuropePMC Articles | Clinical Trials

carbohydrate deficient glycoprotein syndrome type Ik
PubMed Articles | EuropePMC Articles | Clinical Trials

congenital disorder of glycosylation type 1K
PubMed Articles | EuropePMC Articles | Clinical Trials

mannosyltransferase 1 deficiency
PubMed Articles | EuropePMC Articles | Clinical Trials

ALG6-congenital disorder of glycosylation
PubMed Articles | EuropePMC Articles | Clinical Trials

ALG6-CDG
PubMed Articles | EuropePMC Articles | Clinical Trials

CDG syndrome type Ic
PubMed Articles | EuropePMC Articles | Clinical Trials

CDG1C
PubMed Articles | EuropePMC Articles | Clinical Trials

CDGIc
PubMed Articles | EuropePMC Articles | Clinical Trials

carbohydrate-deficient glycoprotein syndrome type Ic
PubMed Articles | EuropePMC Articles | Clinical Trials

carbohydrate-deficient glycoprotein syndrome type V
PubMed Articles | EuropePMC Articles | Clinical Trials

congenital disorder of glycosylation type Ic
PubMed Articles | EuropePMC Articles | Clinical Trials

glucosyltransferase 1 deficiency
PubMed Articles | EuropePMC Articles | Clinical Trials

ALG12-congenital disorder of glycosylation
PubMed Articles | EuropePMC Articles | Clinical Trials

ALG12-CDG
PubMed Articles | EuropePMC Articles | Clinical Trials

CDG Ig
PubMed Articles | EuropePMC Articles | Clinical Trials

CDG1G
PubMed Articles | EuropePMC Articles | Clinical Trials

congenital disorder of glycosylation type 1G
PubMed Articles | EuropePMC Articles | Clinical Trials

congenital disorder of glycosylation type Ig
PubMed Articles | EuropePMC Articles | Clinical Trials

alkaptonuria
PubMed Articles | EuropePMC Articles | Clinical Trials

AKU
PubMed Articles | EuropePMC Articles | Clinical Trials

alcaptonuria
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homogentisic acid oxidase deficiency
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homogentisic acidura
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Allan-Herndon-Dudley syndrome
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Allan-Herndon syndrome
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MCT8 (SLC16A2)-specific thyroid hormone cell transporter deficiency
PubMed Articles | EuropePMC Articles | Clinical Trials

mental retardation, X-linked, with hypotonia
PubMed Articles | EuropePMC Articles | Clinical Trials

monocarboxylate transporter 8 (MCT8) deficiency
PubMed Articles | EuropePMC Articles | Clinical Trials

allergic asthma
PubMed Articles | EuropePMC Articles | Clinical Trials

extrinsic asthma
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Alpers-Huttenlocher syndrome
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Alpers diffuse degeneration of cerebral gray matter with hepatic cirrhosis
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Alpers disease
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Alpers progressive infantile poliodystrophy
PubMed Articles | EuropePMC Articles | Clinical Trials

Alpers syndrome
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diffuse cerebral sclerosis of Schilder
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progressive sclerosing poliodystrophy
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alpha-1 antitrypsin deficiency
PubMed Articles | EuropePMC Articles | Clinical Trials

AAT
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AATD
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alpha-1 protease inhibitor deficiency
PubMed Articles | EuropePMC Articles | Clinical Trials

alpha-1 related emphysema
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genetic emphysema
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hereditary pulmonary emphysema
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inherited emphysema
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alpha-mannosidosis
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alpha-D-mannosidosis
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alpha-mannosidase B deficiency
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alpha-mannosidase deficiency
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deficiency of alpha-mannosidase
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lysosomal alpha B mannosidosis
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lysosomal alpha-D-mannosidase deficiency
PubMed Articles | EuropePMC Articles | Clinical Trials

mannosidosis
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alpha-methylacyl-CoA racemase deficiency
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AMACR deficiency
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alpha thalassemia
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alpha-thalassemia
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α-thalassemia
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alpha thalassemia X-linked intellectual disability syndrome
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ATR-X syndrome
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ATRX syndrome
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X-linked alpha-thalassemia/mental retardation syndrome
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XLMR-hypotonic face syndrome
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alpha thalassemia X-linked mental retardation syndrome
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alpha thalassemia/mental retardation, X-linked
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alpha-thalassemia X-linked mental retardation syndrome
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alpha-thalassemia/mental retardation syndrome, nondeletion type
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Alport syndrome
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congenital hereditary hematuria
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hematuria-nephropathy-deafness syndrome
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hematuric hereditary nephritis
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hemorrhagic familial nephritis
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hemorrhagic hereditary nephritis
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hereditary familial congenital hemorrhagic nephritis
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hereditary hematuria syndrome
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hereditary interstitial pyelonephritis
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hereditary nephritis
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Alström syndrome
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ALMS
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Alstrom syndrome
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Alstrom-Hallgren syndrome
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alternating hemiplegia of childhood
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alternating hemiplegia syndrome
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alveolar capillary dysplasia with misalignment of pulmonary veins
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ACD
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ACD/MPV
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ACDMPV
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alveolar capillary dysplasia
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congenital alveolar capillary dysplasia
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familial persistent pulmonary hypertension of the newborn
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misalignment of the pulmonary vessels
PubMed Articles | EuropePMC Articles | Clinical Trials

Alzheimer disease
PubMed Articles | EuropePMC Articles | Clinical Trials

AD
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Alzheimer dementia (AD)
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Alzheimer sclerosis
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Alzheimer syndrome
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Alzheimer's Disease
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Alzheimer-type dementia (ATD)
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DAT
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Presenile and senile dementia
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Primary Senile Degenerative Dementia
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SDAT
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familial Alzheimer disease (FAD)
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amelogenesis imperfecta
PubMed Articles | EuropePMC Articles | Clinical Trials

AI
PubMed Articles | EuropePMC Articles | Clinical Trials

congenital enamel hypoplasia
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aminoacylase 1 deficiency
PubMed Articles | EuropePMC Articles | Clinical Trials

ACY1D
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deficiency of the aminoacylase-1 enzyme
PubMed Articles | EuropePMC Articles | Clinical Trials

Amish lethal microcephaly
PubMed Articles | EuropePMC Articles | Clinical Trials

Amish microcephaly
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MCPHA
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microcephaly, Amish type
PubMed Articles | EuropePMC Articles | Clinical Trials

amyotrophic lateral sclerosis
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ALS
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Charcot disease
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Lou Gehrig disease
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amyotrophic lateral sclerosis with dementia
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dementia with amyotrophic lateral sclerosis
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motor neuron disease, amyotrophic lateral sclerosis
PubMed Articles | EuropePMC Articles | Clinical Trials

Andermann syndrome
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ACCPN
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Charlevoix disease
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HMSN/ACC
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agenesis of corpus callosum with neuronopathy
PubMed Articles | EuropePMC Articles | Clinical Trials

agenesis of corpus callosum with peripheral neuropathy
PubMed Articles | EuropePMC Articles | Clinical Trials

agenesis of corpus callosum with polyneuropathy
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hereditary motor and sensory neuropathy with agenesis of the corpus callosum
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Andersen-Tawil syndrome
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ATS
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Andersen cardiodysrhythmic periodic paralysis
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Andersen syndrome
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LQT7
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Long QT syndrome 7
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Periodic paralysis, potassium-sensitive cardiodysrhythmic type
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androgen insensitivity syndrome
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AIS
PubMed Articles | EuropePMC Articles | Clinical Trials

AR deficiency
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Androgen receptor deficiency
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Androgen resistance syndrome
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DHTR deficiency
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Dihydrotestosterone receptor deficiency
PubMed Articles | EuropePMC Articles | Clinical Trials

Testicular feminization
PubMed Articles | EuropePMC Articles | Clinical Trials

androgenetic alopecia
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androgenic alopecia
PubMed Articles | EuropePMC Articles | Clinical Trials

female pattern baldness
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male pattern alopecia
PubMed Articles | EuropePMC Articles | Clinical Trials

male pattern baldness
PubMed Articles | EuropePMC Articles | Clinical Trials

pattern baldness
PubMed Articles | EuropePMC Articles | Clinical Trials

anencephaly
PubMed Articles | EuropePMC Articles | Clinical Trials

anencephalia
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anencephalus
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aprosencephaly
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congenital absence of brain
PubMed Articles | EuropePMC Articles | Clinical Trials

Angelman syndrome
PubMed Articles | EuropePMC Articles | Clinical Trials

AS
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anhidrotic ectodermal dysplasia with immune deficiency
PubMed Articles | EuropePMC Articles | Clinical Trials

EDA-ID
PubMed Articles | EuropePMC Articles | Clinical Trials

HED-ID
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ectodermal dysplasia, hypohidrotic, with immune deficiency
PubMed Articles | EuropePMC Articles | Clinical Trials

hyper-IgM immunodeficiency with hypohidrotic ectodermal dysplasia
PubMed Articles | EuropePMC Articles | Clinical Trials

hypohidrotic ectodermal dysplasia with immune deficiency
PubMed Articles | EuropePMC Articles | Clinical Trials

aniridia
PubMed Articles | EuropePMC Articles | Clinical Trials

absent iris
PubMed Articles | EuropePMC Articles | Clinical Trials

congenital aniridia
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irideremia
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ankyloblepharon-ectodermal defects-cleft lip/palate syndrome
PubMed Articles | EuropePMC Articles | Clinical Trials

AEC syndrome
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Hay-Wells syndrome
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ankyloblepharon-ectodermal defects-cleft lip and palate syndrome
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ankylosing spondylitis
PubMed Articles | EuropePMC Articles | Clinical Trials

AS
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Bechterew disease
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Marie-Struempell disease
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spondylarthritis ankylopoietica
PubMed Articles | EuropePMC Articles | Clinical Trials

spondylitis ankylopoietica
PubMed Articles | EuropePMC Articles | Clinical Trials

spondylitis, ankylosing
PubMed Articles | EuropePMC Articles | Clinical Trials

spondyloarthritis ankylopoietica
PubMed Articles | EuropePMC Articles | Clinical Trials

antiphospholipid syndrome
PubMed Articles | EuropePMC Articles | Clinical Trials

Hughes syndrome
PubMed Articles | EuropePMC Articles | Clinical Trials

anti-phospholipid syndrome
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antiphospholipid antibody syndrome
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Apert syndrome
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Acrocephalosyndactyly (Apert)
PubMed Articles | EuropePMC Articles | Clinical Trials

arginase deficiency
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ARG1 deficiency
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Arginase Deficiency Disease
PubMed Articles | EuropePMC Articles | Clinical Trials

Argininemia
PubMed Articles | EuropePMC Articles | Clinical Trials

Hyperargininemia
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arginine:glycine amidinotransferase deficiency
PubMed Articles | EuropePMC Articles | Clinical Trials

AGAT deficiency
PubMed Articles | EuropePMC Articles | Clinical Trials

GATM deficiency
PubMed Articles | EuropePMC Articles | Clinical Trials

cerebral creatine deficiency syndrome 3
PubMed Articles | EuropePMC Articles | Clinical Trials

creatine deficiency syndrome due to AGAT deficiency
PubMed Articles | EuropePMC Articles | Clinical Trials

l-arginine:glycine amidinotransferase deficiency
PubMed Articles | EuropePMC Articles | Clinical Trials

l-arginine:glycine aminidotransferase deficiency
PubMed Articles | EuropePMC Articles | Clinical Trials

argininosuccinic aciduria
PubMed Articles | EuropePMC Articles | Clinical Trials

ASA
PubMed Articles | EuropePMC Articles | Clinical Trials

ASAuria
PubMed Articles | EuropePMC Articles | Clinical Trials

ASL deficiency
PubMed Articles | EuropePMC Articles | Clinical Trials

Argininosuccinate lyase deficiency
PubMed Articles | EuropePMC Articles | Clinical Trials

Argininosuccinicaciduria
PubMed Articles | EuropePMC Articles | Clinical Trials

argininosuccinic acidemia
PubMed Articles | EuropePMC Articles | Clinical Trials

argininosuccinyl-CoA lyase deficiency
PubMed Articles | EuropePMC Articles | Clinical Trials

arginosuccinase deficiency
PubMed Articles | EuropePMC Articles | Clinical Trials

aromatase deficiency
PubMed Articles | EuropePMC Articles | Clinical Trials

46,XX disorder of sex development (DSD) due to placental aromatase deficiency
PubMed Articles | EuropePMC Articles | Clinical Trials

estrogen synthetase deficiency
PubMed Articles | EuropePMC Articles | Clinical Trials

oestrogen synthetase deficiency
PubMed Articles | EuropePMC Articles | Clinical Trials

placental aromatase deficiency
PubMed Articles | EuropePMC Articles | Clinical Trials

aromatase excess syndrome
PubMed Articles | EuropePMC Articles | Clinical Trials

AEXS
PubMed Articles | EuropePMC Articles | Clinical Trials

familial gynecomastia due to increased aromatase activity
PubMed Articles | EuropePMC Articles | Clinical Trials

hereditary gynecomastia
PubMed Articles | EuropePMC Articles | Clinical Trials

increased aromatase activity
PubMed Articles | EuropePMC Articles | Clinical Trials

aromatic l-amino acid decarboxylase deficiency
PubMed Articles | EuropePMC Articles | Clinical Trials

AADC deficiency
PubMed Articles | EuropePMC Articles | Clinical Trials

DDC deficiency
PubMed Articles | EuropePMC Articles | Clinical Trials

deficiency of aromatic-L-amino-acid decarboxylase
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dopa decarboxylase deficiency
PubMed Articles | EuropePMC Articles | Clinical Trials

arrhythmogenic right ventricular cardiomyopathy
PubMed Articles | EuropePMC Articles | Clinical Trials

ARVC
PubMed Articles | EuropePMC Articles | Clinical Trials

ARVD
PubMed Articles | EuropePMC Articles | Clinical Trials

ARVD/C
PubMed Articles | EuropePMC Articles | Clinical Trials

arrhythmogenic right ventricular cardiomyopathy-dysplasia
PubMed Articles | EuropePMC Articles | Clinical Trials

arrhythmogenic right ventricular dysplasia
PubMed Articles | EuropePMC Articles | Clinical Trials

arrhythmogenic right ventricular dysplasia/cardiomyopathy
PubMed Articles | EuropePMC Articles | Clinical Trials

right ventricular dysplasia, arrhythmogenic
PubMed Articles | EuropePMC Articles | Clinical Trials

ventricular dysplasia, right, arrhythmogenic
PubMed Articles | EuropePMC Articles | Clinical Trials

arterial tortuosity syndrome
PubMed Articles | EuropePMC Articles | Clinical Trials

ATS
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arterial tortuosity
PubMed Articles | EuropePMC Articles | Clinical Trials

Arts syndrome
PubMed Articles | EuropePMC Articles | Clinical Trials

ataxia, fatal X-linked, with deafness and loss of vision
PubMed Articles | EuropePMC Articles | Clinical Trials

ataxia-deafness-optic atrophy, lethal
PubMed Articles | EuropePMC Articles | Clinical Trials

aspartylglucosaminuria
PubMed Articles | EuropePMC Articles | Clinical Trials

AGA deficiency
PubMed Articles | EuropePMC Articles | Clinical Trials

Aspartylglucosaminidase deficiency
PubMed Articles | EuropePMC Articles | Clinical Trials

aspartylglucosamidase deficiency
PubMed Articles | EuropePMC Articles | Clinical Trials

aspartylglycosaminuria
PubMed Articles | EuropePMC Articles | Clinical Trials

glycosylasparaginase deficiency
PubMed Articles | EuropePMC Articles | Clinical Trials

Asperger syndrome
PubMed Articles | EuropePMC Articles | Clinical Trials

Asperger disease
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Asperger disorder
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Asperger's disease
PubMed Articles | EuropePMC Articles | Clinical Trials

Asperger's disorder
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Asperger's syndrome
PubMed Articles | EuropePMC Articles | Clinical Trials

asphyxiating thoracic dystrophy
PubMed Articles | EuropePMC Articles | Clinical Trials

ATD
PubMed Articles | EuropePMC Articles | Clinical Trials

Jeune syndrome
PubMed Articles | EuropePMC Articles | Clinical Trials

Jeune thoracic dysplasia
PubMed Articles | EuropePMC Articles | Clinical Trials

Jeune thoracic dystrophy
PubMed Articles | EuropePMC Articles | Clinical Trials

asphyxiating thoracic chondrodystrophy
PubMed Articles | EuropePMC Articles | Clinical Trials

asphyxiating thoracic dysplasia
PubMed Articles | EuropePMC Articles | Clinical Trials

chondroectodermal dysplasia-like syndrome
PubMed Articles | EuropePMC Articles | Clinical Trials

infantile thoracic dystrophy
PubMed Articles | EuropePMC Articles | Clinical Trials

thoracic asphyxiant dystrophy
PubMed Articles | EuropePMC Articles | Clinical Trials

thoracic-pelvic-phalangeal dystrophy
PubMed Articles | EuropePMC Articles | Clinical Trials

ataxia neuropathy spectrum
PubMed Articles | EuropePMC Articles | Clinical Trials

ANS
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MIRAS
PubMed Articles | EuropePMC Articles | Clinical Trials

SANDO
PubMed Articles | EuropePMC Articles | Clinical Trials

mitochondrial recessive ataxia syndrome
PubMed Articles | EuropePMC Articles | Clinical Trials

sensory ataxia neuropathy dysarthria and ophthalmoplegia
PubMed Articles | EuropePMC Articles | Clinical Trials

ataxia-telangiectasia
PubMed Articles | EuropePMC Articles | Clinical Trials

A-T
PubMed Articles | EuropePMC Articles | Clinical Trials

ATM
PubMed Articles | EuropePMC Articles | Clinical Trials

Louis-Bar syndrome
PubMed Articles | EuropePMC Articles | Clinical Trials

ataxia telangiectasia syndrome
PubMed Articles | EuropePMC Articles | Clinical Trials

telangiectasia, cerebello-oculocutaneous
PubMed Articles | EuropePMC Articles | Clinical Trials

ataxia with oculomotor apraxia
PubMed Articles | EuropePMC Articles | Clinical Trials

EAOH
PubMed Articles | EuropePMC Articles | Clinical Trials

SCAN2
PubMed Articles | EuropePMC Articles | Clinical Trials

SCAR1
PubMed Articles | EuropePMC Articles | Clinical Trials

adult onset ataxia with oculomotor apraxia
PubMed Articles | EuropePMC Articles | Clinical Trials

early-onset ataxia with ocular motor apraxia and hypoalbuminemia
PubMed Articles | EuropePMC Articles | Clinical Trials

spinocerebellar ataxia with axonal neuropathy type 2
PubMed Articles | EuropePMC Articles | Clinical Trials

spinocerebellar ataxia, recessive, non-Friedreich type 1
PubMed Articles | EuropePMC Articles | Clinical Trials

ataxia with vitamin E deficiency
PubMed Articles | EuropePMC Articles | Clinical Trials

AVED
PubMed Articles | EuropePMC Articles | Clinical Trials

FIVE
PubMed Articles | EuropePMC Articles | Clinical Trials

Friedreich ataxia phenotype with selective vitamin E deficiency
PubMed Articles | EuropePMC Articles | Clinical Trials

Friedreich-like ataxia
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ataxia with isolated vitamin E deficiency
PubMed Articles | EuropePMC Articles | Clinical Trials

familial isolated vitamin E deficiency
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atelosteogenesis type 1
PubMed Articles | EuropePMC Articles | Clinical Trials

AOI
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atelosteogenesis type I
PubMed Articles | EuropePMC Articles | Clinical Trials

giant cell chondrodysplasia
PubMed Articles | EuropePMC Articles | Clinical Trials

spondylohumerofemoral hypoplasia
PubMed Articles | EuropePMC Articles | Clinical Trials

atelosteogenesis type 2
PubMed Articles | EuropePMC Articles | Clinical Trials

AO2
PubMed Articles | EuropePMC Articles | Clinical Trials

Atelosteogenesis de la Chapelle type
PubMed Articles | EuropePMC Articles | Clinical Trials

De la Chapelle dysplasia
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McAlister dysplasia
PubMed Articles | EuropePMC Articles | Clinical Trials

Neonatal osseous dysplasia 1
PubMed Articles | EuropePMC Articles | Clinical Trials

atelosteogenesis, type 2
PubMed Articles | EuropePMC Articles | Clinical Trials

atelosteogenesis type 3
PubMed Articles | EuropePMC Articles | Clinical Trials

AOIII
PubMed Articles | EuropePMC Articles | Clinical Trials

atelosteogenesis type III
PubMed Articles | EuropePMC Articles | Clinical Trials

atopic dermatitis
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atopic eczema
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atypical hemolytic-uremic syndrome
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aHUS
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non-Shiga-like toxin-associated HUS
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non-Stx-HUS
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nonenteropathic HUS
PubMed Articles | EuropePMC Articles | Clinical Trials

auriculo-condylar syndrome
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auriculocondylar syndrome
PubMed Articles | EuropePMC Articles | Clinical Trials

dysgnathia complex
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question-mark ear syndrome
PubMed Articles | EuropePMC Articles | Clinical Trials

autoimmune Addison disease
PubMed Articles | EuropePMC Articles | Clinical Trials

autoimmune Addison's disease
PubMed Articles | EuropePMC Articles | Clinical Trials

autoimmune adrenalitis
PubMed Articles | EuropePMC Articles | Clinical Trials

classic Addison disease
PubMed Articles | EuropePMC Articles | Clinical Trials

primary Addison disease
PubMed Articles | EuropePMC Articles | Clinical Trials

autoimmune lymphoproliferative syndrome
PubMed Articles | EuropePMC Articles | Clinical Trials

ALPS
PubMed Articles | EuropePMC Articles | Clinical Trials

Canale-Smith syndrome
PubMed Articles | EuropePMC Articles | Clinical Trials

autoimmune polyglandular syndrome, type 1
PubMed Articles | EuropePMC Articles | Clinical Trials

AIRE deficiency
PubMed Articles | EuropePMC Articles | Clinical Trials

APECED
PubMed Articles | EuropePMC Articles | Clinical Trials

APS type 1
PubMed Articles | EuropePMC Articles | Clinical Trials

APS1
PubMed Articles | EuropePMC Articles | Clinical Trials

Autoimmune Polyendocrinopathy Syndrome Type 1
PubMed Articles | EuropePMC Articles | Clinical Trials

Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy
PubMed Articles | EuropePMC Articles | Clinical Trials

Autoimmune Syndrome Type I, Polyglandular
PubMed Articles | EuropePMC Articles | Clinical Trials

Autoimmune polyendocrinopathy with candidiasis and ectodermal dystrophy
PubMed Articles | EuropePMC Articles | Clinical Trials

PGA I
PubMed Articles | EuropePMC Articles | Clinical Trials

Polyendocrinopathy-Candidiasis-Ectodermal-Dystrophy, Autoimmune
PubMed Articles | EuropePMC Articles | Clinical Trials

Polyglandular Type I Autoimmune Syndrome
PubMed Articles | EuropePMC Articles | Clinical Trials

Polyglandular autoimmune syndrome, type 1
PubMed Articles | EuropePMC Articles | Clinical Trials

autosomal dominant congenital stationary night blindness
PubMed Articles | EuropePMC Articles | Clinical Trials

CSNBAD
PubMed Articles | EuropePMC Articles | Clinical Trials

adCSNB
PubMed Articles | EuropePMC Articles | Clinical Trials

night blindness, congenital stationary, autosomal dominant
PubMed Articles | EuropePMC Articles | Clinical Trials

autosomal dominant hyper-IgE syndrome
PubMed Articles | EuropePMC Articles | Clinical Trials

AD-HIES
PubMed Articles | EuropePMC Articles | Clinical Trials

Buckley syndrome
PubMed Articles | EuropePMC Articles | Clinical Trials

Job syndrome
PubMed Articles | EuropePMC Articles | Clinical Trials

Job's Syndrome
PubMed Articles | EuropePMC Articles | Clinical Trials

Job-Buckley syndrome
PubMed Articles | EuropePMC Articles | Clinical Trials

STAT3 deficiency
PubMed Articles | EuropePMC Articles | Clinical Trials

STAT3-deficient hyper IgE syndrome
PubMed Articles | EuropePMC Articles | Clinical Trials

autosomal dominant HIES
PubMed Articles | EuropePMC Articles | Clinical Trials

autosomal dominant Job syndrome
PubMed Articles | EuropePMC Articles | Clinical Trials

autosomal dominant hyper-IgE recurrent infection syndrome
PubMed Articles | EuropePMC Articles | Clinical Trials

autosomal dominant hyperimmunoglobulin E recurrent infection syndrome
PubMed Articles | EuropePMC Articles | Clinical Trials

autosomal dominant hypocalcemia
PubMed Articles | EuropePMC Articles | Clinical Trials

ADH
PubMed Articles | EuropePMC Articles | Clinical Trials

autosomal dominant hypoparathyroidism
PubMed Articles | EuropePMC Articles | Clinical Trials

familial hypercalciuric hypocalcemia
PubMed Articles | EuropePMC Articles | Clinical Trials

familial hypocalcemia
PubMed Articles | EuropePMC Articles | Clinical Trials

autosomal dominant nocturnal frontal lobe epilepsy
PubMed Articles | EuropePMC Articles | Clinical Trials

ADNFLE
PubMed Articles | EuropePMC Articles | Clinical Trials

autosomal dominant partial epilepsy with auditory features
PubMed Articles | EuropePMC Articles | Clinical Trials

ADLTE
PubMed Articles | EuropePMC Articles | Clinical Trials

ADPEAF
PubMed Articles | EuropePMC Articles | Clinical Trials

Autosomal dominant lateral temporal lobe epilepsy
PubMed Articles | EuropePMC Articles | Clinical Trials

ETL1
PubMed Articles | EuropePMC Articles | Clinical Trials

Epilepsy, partial, with auditory features
PubMed Articles | EuropePMC Articles | Clinical Trials

autosomal dominant vitreoretinochoroidopathy
PubMed Articles | EuropePMC Articles | Clinical Trials

ADVIRC
PubMed Articles | EuropePMC Articles | Clinical Trials

vitreoretinochoroidopathy dominant
PubMed Articles | EuropePMC Articles | Clinical Trials

vitreoretinochoroidopathy with microcornea, glaucoma, and cataract
PubMed Articles | EuropePMC Articles | Clinical Trials

vitreoretinochoroidopathy, autosomal dominant, with nanophthalmos
PubMed Articles | EuropePMC Articles | Clinical Trials

autosomal recessive axonal neuropathy with neuromyotonia
PubMed Articles | EuropePMC Articles | Clinical Trials

ARAN-NM
PubMed Articles | EuropePMC Articles | Clinical Trials

Gamstorp-Wohlfart syndrome
PubMed Articles | EuropePMC Articles | Clinical Trials

NMAN
PubMed Articles | EuropePMC Articles | Clinical Trials

autosomal recessive Charcot-Marie-Tooth disease type 2 with neuromyotonia
PubMed Articles | EuropePMC Articles | Clinical Trials

autosomal recessive neuromyotonia and axonal neuropathy
PubMed Articles | EuropePMC Articles | Clinical Trials

myokymia, myotonia, and muscle wasting
PubMed Articles | EuropePMC Articles | Clinical Trials

autosomal recessive cerebellar ataxia type 1
PubMed Articles | EuropePMC Articles | Clinical Trials

ARCA1
PubMed Articles | EuropePMC Articles | Clinical Trials

autosomal recessive spinocerebellar ataxia 8
PubMed Articles | EuropePMC Articles | Clinical Trials

recessive ataxia of Beauce
PubMed Articles | EuropePMC Articles | Clinical Trials

autosomal recessive congenital methemoglobinemia
PubMed Articles | EuropePMC Articles | Clinical Trials

NADH-CYB5R deficiency
PubMed Articles | EuropePMC Articles | Clinical Trials

NADH-cytochrome b5 reductase deficiency
PubMed Articles | EuropePMC Articles | Clinical Trials

chronic familial methemoglobin reductase deficiency
PubMed Articles | EuropePMC Articles | Clinical Trials

congenital NADH-methemoglobin reductase deficiency
PubMed Articles | EuropePMC Articles | Clinical Trials

congenital methemoglobinemia due to NADH-cytochrome b5 reductase 3 deficiency
PubMed Articles | EuropePMC Articles | Clinical Trials

cytochrome b5 reductase deficiency
PubMed Articles | EuropePMC Articles | Clinical Trials

deficiency of cytochrome-b5 reductase
PubMed Articles | EuropePMC Articles | Clinical Trials

diaphorase deficiency
PubMed Articles | EuropePMC Articles | Clinical Trials

autosomal recessive congenital stationary night blindness
PubMed Articles | EuropePMC Articles | Clinical Trials

autosomal recessive complete congenital stationary night blindness
PubMed Articles | EuropePMC Articles | Clinical Trials

autosomal recessive incomplete congenital stationary night blindness
PubMed Articles | EuropePMC Articles | Clinical Trials

autosomal recessive hyper-IgE syndrome
PubMed Articles | EuropePMC Articles | Clinical Trials

AR-HIES
PubMed Articles | EuropePMC Articles | Clinical Trials

CID due to DOCK8 deficiency
PubMed Articles | EuropePMC Articles | Clinical Trials

DOCK8 deficiency
PubMed Articles | EuropePMC Articles | Clinical Trials

DOCK8 immunodeficiency syndrome
PubMed Articles | EuropePMC Articles | Clinical Trials

autosomal recessive HIES
PubMed Articles | EuropePMC Articles | Clinical Trials

combined immunodeficiency due to DOCK8 deficiency
PubMed Articles | EuropePMC Articles | Clinical Trials

hyper IgE recurrent infection syndrome, autosomal recessive
PubMed Articles | EuropePMC Articles | Clinical Trials

hyper immunoglobulin E syndrome, autosomal recessive
PubMed Articles | EuropePMC Articles | Clinical Trials

hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive
PubMed Articles | EuropePMC Articles | Clinical Trials

hyperimmunoglobulin E syndrome type 2
PubMed Articles | EuropePMC Articles | Clinical Trials

non-skeletal hyper-IgE syndrome
PubMed Articles | EuropePMC Articles | Clinical Trials

autosomal recessive hypotrichosis
PubMed Articles | EuropePMC Articles | Clinical Trials

AH
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HTL
PubMed Articles | EuropePMC Articles | Clinical Trials

LAH
PubMed Articles | EuropePMC Articles | Clinical Trials

autosomal recessive localized hypotrichosis
PubMed Articles | EuropePMC Articles | Clinical Trials

autosomal recessive woolly hair with or without hypotrichosis
PubMed Articles | EuropePMC Articles | Clinical Trials

hypotrichoses
PubMed Articles | EuropePMC Articles | Clinical Trials

hypotrichosis
PubMed Articles | EuropePMC Articles | Clinical Trials

total hypotrichosis, Mari type
PubMed Articles | EuropePMC Articles | Clinical Trials

autosomal recessive primary microcephaly
PubMed Articles | EuropePMC Articles | Clinical Trials

MCPH
PubMed Articles | EuropePMC Articles | Clinical Trials

microcephaly primary hereditary
PubMed Articles | EuropePMC Articles | Clinical Trials

primary autosomal recessive microcephaly
PubMed Articles | EuropePMC Articles | Clinical Trials

true microcephaly
PubMed Articles | EuropePMC Articles | Clinical Trials

autosomal recessive spastic ataxia of Charlevoix-Saguenay
PubMed Articles | EuropePMC Articles | Clinical Trials

ARSACS
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Charlevoix-Saguenay spastic ataxia
PubMed Articles | EuropePMC Articles | Clinical Trials

spastic ataxia of Charlevoix-Saguenay
PubMed Articles | EuropePMC Articles | Clinical Trials

spastic ataxia, Charlevoix-Saguenay type
PubMed Articles | EuropePMC Articles | Clinical Trials

Axenfeld-Rieger syndrome
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ARS
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AXRA
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AXRS
PubMed Articles | EuropePMC Articles | Clinical Trials

Axenfeld and Rieger anomaly
PubMed Articles | EuropePMC Articles | Clinical Trials

Axenfeld anomaly
PubMed Articles | EuropePMC Articles | Clinical Trials

Axenfeld syndrome
PubMed Articles | EuropePMC Articles | Clinical Trials

Rieger anomaly
PubMed Articles | EuropePMC Articles | Clinical Trials

Rieger syndrome
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Baller-Gerold syndrome
PubMed Articles | EuropePMC Articles | Clinical Trials

BGS
PubMed Articles | EuropePMC Articles | Clinical Trials

craniosynostosis with radial defects
PubMed Articles | EuropePMC Articles | Clinical Trials

craniosynostosis-radial aplasia syndrome
PubMed Articles | EuropePMC Articles | Clinical Trials

Bannayan-Riley-Ruvalcaba syndrome
PubMed Articles | EuropePMC Articles | Clinical Trials

BRRS
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BZS
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Bannayan-Ruvalcaba-Riley syndrome
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Bannayan-Zonana syndrome
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Myhre-Riley-Smith syndrome
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Riley-Smith syndrome
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Ruvalcaba-Myhre syndrome
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Ruvalcaba-Myhre-Smith syndrome
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Baraitser-Winter syndrome
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BRWS
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Fryns-Aftimos syndrome
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cerebro-frontofacial syndrome, type 3
PubMed Articles | EuropePMC Articles | Clinical Trials

iris coloboma with ptosis, hypertelorism, and mental retardation
PubMed Articles | EuropePMC Articles | Clinical Trials

Bardet-Biedl syndrome
PubMed Articles | EuropePMC Articles | Clinical Trials

BBS
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LMBBS
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LMS
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Laurence-Moon syndrome
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Laurence-Moon-Bardet-Biedl syndrome
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Laurence-Moon-Biedl syndrome
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Bart-Pumphrey syndrome
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knuckle pads, deafness, and leukonychia syndrome
PubMed Articles | EuropePMC Articles | Clinical Trials

knuckle pads, leukonychia, and sensorineural deafness
PubMed Articles | EuropePMC Articles | Clinical Trials

Barth syndrome
PubMed Articles | EuropePMC Articles | Clinical Trials

3 methylglutaconic aciduria, type II
PubMed Articles | EuropePMC Articles | Clinical Trials

3-methylglutaconic aciduria type 2
PubMed Articles | EuropePMC Articles | Clinical Trials

BTHS
PubMed Articles | EuropePMC Articles | Clinical Trials

DNAJC19 defect
PubMed Articles | EuropePMC Articles | Clinical Trials

MGA type 2
PubMed Articles | EuropePMC Articles | Clinical Trials

MGA type II
PubMed Articles | EuropePMC Articles | Clinical Trials

TAZ defect
PubMed Articles | EuropePMC Articles | Clinical Trials

cardioskeletal myopathy with neutropenia and abnormal mitochondria
PubMed Articles | EuropePMC Articles | Clinical Trials

Bartter syndrome
PubMed Articles | EuropePMC Articles | Clinical Trials

Bartter disease
PubMed Articles | EuropePMC Articles | Clinical Trials

Bartter's syndrome
PubMed Articles | EuropePMC Articles | Clinical Trials

aldosteronism with hyperplasia of the adrenal cortex
PubMed Articles | EuropePMC Articles | Clinical Trials

juxtaglomerular hyperplasia with secondary aldosteronism
PubMed Articles | EuropePMC Articles | Clinical Trials

Beare-Stevenson cutis gyrata syndrome
PubMed Articles | EuropePMC Articles | Clinical Trials

cutis gyrata syndrome of Beare and Stevenson
PubMed Articles | EuropePMC Articles | Clinical Trials

cutis gyrata syndrome of Beare-Stevenson
PubMed Articles | EuropePMC Articles | Clinical Trials

Beckwith-Wiedemann syndrome
PubMed Articles | EuropePMC Articles | Clinical Trials

BWS
PubMed Articles | EuropePMC Articles | Clinical Trials

Wiedemann-Beckwith syndrome (WBS)
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Behçet disease
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Adamantiades-Behcet disease
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Behcet disease
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Behcet syndrome
PubMed Articles | EuropePMC Articles | Clinical Trials

Behcet triple symptom complex
PubMed Articles | EuropePMC Articles | Clinical Trials

Behcet's syndrome
PubMed Articles | EuropePMC Articles | Clinical Trials

Old Silk Route disease
PubMed Articles | EuropePMC Articles | Clinical Trials

triple symptom complex
PubMed Articles | EuropePMC Articles | Clinical Trials

benign chronic pemphigus
PubMed Articles | EuropePMC Articles | Clinical Trials

Hailey-Hailey disease
PubMed Articles | EuropePMC Articles | Clinical Trials

benign familial pemphigus
PubMed Articles | EuropePMC Articles | Clinical Trials

familial benign chronic pemphigus
PubMed Articles | EuropePMC Articles | Clinical Trials

pemphigus, benign familial
PubMed Articles | EuropePMC Articles | Clinical Trials

benign essential blepharospasm
PubMed Articles | EuropePMC Articles | Clinical Trials

essential blepharospasm
PubMed Articles | EuropePMC Articles | Clinical Trials

eyelid twitching
PubMed Articles | EuropePMC Articles | Clinical Trials

primary blepharospasm
PubMed Articles | EuropePMC Articles | Clinical Trials

spasm of eyelids
PubMed Articles | EuropePMC Articles | Clinical Trials

benign familial neonatal seizures
PubMed Articles | EuropePMC Articles | Clinical Trials

BFNS
PubMed Articles | EuropePMC Articles | Clinical Trials

benign familial neonatal convulsions
PubMed Articles | EuropePMC Articles | Clinical Trials

benign familial neonatal epilepsy
PubMed Articles | EuropePMC Articles | Clinical Trials

benign neonatal convulsions
PubMed Articles | EuropePMC Articles | Clinical Trials

benign neonatal epilepsy
PubMed Articles | EuropePMC Articles | Clinical Trials

benign recurrent intrahepatic cholestasis
PubMed Articles | EuropePMC Articles | Clinical Trials

ABCB11-related intrahepatic cholestasis
PubMed Articles | EuropePMC Articles | Clinical Trials

ATP8B1-related intrahepatic cholestasis
PubMed Articles | EuropePMC Articles | Clinical Trials

BRIC
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low gamma-GT familial intrahepatic cholestasis
PubMed Articles | EuropePMC Articles | Clinical Trials

recurrent familial intrahepatic cholestasis
PubMed Articles | EuropePMC Articles | Clinical Trials

beta-ketothiolase deficiency
PubMed Articles | EuropePMC Articles | Clinical Trials

2-alpha-methyl-3-hydroxybutyricacidemia
PubMed Articles | EuropePMC Articles | Clinical Trials

3-Ketothiolase deficiency
PubMed Articles | EuropePMC Articles | Clinical Trials

3-Methylhydroxybutyric acidemia
PubMed Articles | EuropePMC Articles | Clinical Trials

3-alpha-ketothiolase deficiency
PubMed Articles | EuropePMC Articles | Clinical Trials

3-alpha-ktd deficiency
PubMed Articles | EuropePMC Articles | Clinical Trials

3-alpha-oxothiolase deficiency
PubMed Articles | EuropePMC Articles | Clinical Trials

BKT
PubMed Articles | EuropePMC Articles | Clinical Trials

MAT deficiency
PubMed Articles | EuropePMC Articles | Clinical Trials

Mitochondrial 2-methylacetoacetyl-CoA thiolase deficiency - potassium stimulated
PubMed Articles | EuropePMC Articles | Clinical Trials

Mitochondrial acetoacetyl-CoA thiolase deficiency
PubMed Articles | EuropePMC Articles | Clinical Trials

T2 deficiency
PubMed Articles | EuropePMC Articles | Clinical Trials

alpha-Methylacetoacetic aciduria
PubMed Articles | EuropePMC Articles | Clinical Trials

β-ketothiolase deficiency
PubMed Articles | EuropePMC Articles | Clinical Trials

beta-mannosidosis
PubMed Articles | EuropePMC Articles | Clinical Trials

beta-D-mannosidosis
PubMed Articles | EuropePMC Articles | Clinical Trials

beta-mannosidase deficiency
PubMed Articles | EuropePMC Articles | Clinical Trials

lysosomal beta A mannosidosis
PubMed Articles | EuropePMC Articles | Clinical Trials

lysosomal beta-mannosidase deficiency
PubMed Articles | EuropePMC Articles | Clinical Trials

beta thalassemia
PubMed Articles | EuropePMC Articles | Clinical Trials

Mediterranean anemia
PubMed Articles | EuropePMC Articles | Clinical Trials

erythroblastic anemia
PubMed Articles | EuropePMC Articles | Clinical Trials

microcytemia, beta type
PubMed Articles | EuropePMC Articles | Clinical Trials

thalassemia, beta type
PubMed Articles | EuropePMC Articles | Clinical Trials

beta-ureidopropionase deficiency
PubMed Articles | EuropePMC Articles | Clinical Trials

beta-alanine synthase deficiency
PubMed Articles | EuropePMC Articles | Clinical Trials

deficiency of beta-ureidopropionase
PubMed Articles | EuropePMC Articles | Clinical Trials

Bietti crystalline dystrophy
PubMed Articles | EuropePMC Articles | Clinical Trials

BCD
PubMed Articles | EuropePMC Articles | Clinical Trials

Bietti crystalline corneoretinal dystrophy
PubMed Articles | EuropePMC Articles | Clinical Trials

Bietti crystalline retinopathy
PubMed Articles | EuropePMC Articles | Clinical Trials

Bietti tapetoretinal degeneration with marginal corneal dystrophy
PubMed Articles | EuropePMC Articles | Clinical Trials

biotin-thiamine-responsive basal ganglia disease
PubMed Articles | EuropePMC Articles | Clinical Trials

BBGD
PubMed Articles | EuropePMC Articles | Clinical Trials

BTBGD
PubMed Articles | EuropePMC Articles | Clinical Trials

THMD2
PubMed Articles | EuropePMC Articles | Clinical Trials

biotin-responsive basal ganglia disease
PubMed Articles | EuropePMC Articles | Clinical Trials

thiamine metabolism dysfunction syndrome 2
PubMed Articles | EuropePMC Articles | Clinical Trials

thiamine transporter-2 deficiency
PubMed Articles | EuropePMC Articles | Clinical Trials

thiamine-responsive encephalopathy
PubMed Articles | EuropePMC Articles | Clinical Trials

biotinidase deficiency
PubMed Articles | EuropePMC Articles | Clinical Trials

BIOT
PubMed Articles | EuropePMC Articles | Clinical Trials

BTD deficiency
PubMed Articles | EuropePMC Articles | Clinical Trials

carboxylase deficiency, multiple, late-onset
PubMed Articles | EuropePMC Articles | Clinical Trials

late-onset biotin-responsive multiple carboxylase deficiency
PubMed Articles | EuropePMC Articles | Clinical Trials

late-onset multiple carboxylase deficiency
PubMed Articles | EuropePMC Articles | Clinical Trials

multiple carboxylase deficiency, late-onset
PubMed Articles | EuropePMC Articles | Clinical Trials

Birt-Hogg-Dubé syndrome
PubMed Articles | EuropePMC Articles | Clinical Trials

BHD
PubMed Articles | EuropePMC Articles | Clinical Trials

Hornstein-Birt-Hogg-Dubé syndrome
PubMed Articles | EuropePMC Articles | Clinical Trials

Hornstein-Knickenberg syndrome
PubMed Articles | EuropePMC Articles | Clinical Trials

fibrofolliculomas with trichodiscomas and acrochordons
PubMed Articles | EuropePMC Articles | Clinical Trials

Björnstad syndrome
PubMed Articles | EuropePMC Articles | Clinical Trials

BJS
PubMed Articles | EuropePMC Articles | Clinical Trials

Bjornstad syndrome
PubMed Articles | EuropePMC Articles | Clinical Trials

PTD
PubMed Articles | EuropePMC Articles | Clinical Trials

deafness and pili torti, Bjornstad type
PubMed Articles | EuropePMC Articles | Clinical Trials

pili torti and nerve deafness
PubMed Articles | EuropePMC Articles | Clinical Trials

pili torti-deafness syndrome
PubMed Articles | EuropePMC Articles | Clinical Trials

pili torti-sensorineural hearing loss
PubMed Articles | EuropePMC Articles | Clinical Trials

bladder cancer
PubMed Articles | EuropePMC Articles | Clinical Trials

Cancer of the bladder
PubMed Articles | EuropePMC Articles | Clinical Trials

Malignant tumor of urinary bladder
PubMed Articles | EuropePMC Articles | Clinical Trials

Urinary bladder cancer
PubMed Articles | EuropePMC Articles | Clinical Trials

Blau syndrome
PubMed Articles | EuropePMC Articles | Clinical Trials

arthrocutaneouveal granulomatosis
PubMed Articles | EuropePMC Articles | Clinical Trials

early-onset sarcoidosis
PubMed Articles | EuropePMC Articles | Clinical Trials

familial granulomatosis, Blau type
PubMed Articles | EuropePMC Articles | Clinical Trials

familial juvenile systemic granulomatosis
PubMed Articles | EuropePMC Articles | Clinical Trials

granulomatous inflammatory arthritis, dermatitis, and uveitis, familial
PubMed Articles | EuropePMC Articles | Clinical Trials

pediatric granulomatous arthritis
PubMed Articles | EuropePMC Articles | Clinical Trials

blepharophimosis, ptosis, and epicanthus inversus syndrome
PubMed Articles | EuropePMC Articles | Clinical Trials

BPES
PubMed Articles | EuropePMC Articles | Clinical Trials

blepharophimosis syndrome
PubMed Articles | EuropePMC Articles | Clinical Trials

blepharophimosis, ptosis, and epicanthus inversus
PubMed Articles | EuropePMC Articles | Clinical Trials

Bloom syndrome
PubMed Articles | EuropePMC Articles | Clinical Trials

Bloom's syndrome
PubMed Articles | EuropePMC Articles | Clinical Trials

Bloom-Torre-Machacek syndrome
PubMed Articles | EuropePMC Articles | Clinical Trials

congenital telangiectatic erythema
PubMed Articles | EuropePMC Articles | Clinical Trials

boomerang dysplasia
PubMed Articles | EuropePMC Articles | Clinical Trials

Piepkorn dysplasia
PubMed Articles | EuropePMC Articles | Clinical Trials

Bowen-Conradi syndrome
PubMed Articles | EuropePMC Articles | Clinical Trials

BWCNS
PubMed Articles | EuropePMC Articles | Clinical Trials

Bowen Hutterite syndrome
PubMed Articles | EuropePMC Articles | Clinical Trials

Bowen syndrome, Hutterite type
PubMed Articles | EuropePMC Articles | Clinical Trials

Bowen-Conradi Hutterite syndrome
PubMed Articles | EuropePMC Articles | Clinical Trials

Hutterite syndrome
PubMed Articles | EuropePMC Articles | Clinical Trials

bradyopsia
PubMed Articles | EuropePMC Articles | Clinical Trials

PERRS
PubMed Articles | EuropePMC Articles | Clinical Trials

prolonged electroretinal response suppression
PubMed Articles | EuropePMC Articles | Clinical Trials

branchio-oculo-facial syndrome
PubMed Articles | EuropePMC Articles | Clinical Trials

BOFS
PubMed Articles | EuropePMC Articles | Clinical Trials

branchial clefts with characteristic facies, growth retardation, imperforate nasolacrimal duct, and premature aging
PubMed Articles | EuropePMC Articles | Clinical Trials

hemangiomatous branchial clefts-lip pseudocleft syndrome
PubMed Articles | EuropePMC Articles | Clinical Trials

lip pseudocleft-hemagiomatous branchial cyst syndrome
PubMed Articles | EuropePMC Articles | Clinical Trials

branchiootorenal syndrome
PubMed Articles | EuropePMC Articles | Clinical Trials

BOR
PubMed Articles | EuropePMC Articles | Clinical Trials

BOR Syndrome
PubMed Articles | EuropePMC Articles | Clinical Trials

Branchio-Oto-Renal Syndrome
PubMed Articles | EuropePMC Articles | Clinical Trials

Branchio-Otorenal Dysplasia
PubMed Articles | EuropePMC Articles | Clinical Trials

Branchio-Otorenal Syndrome
PubMed Articles | EuropePMC Articles | Clinical Trials

Branchiootorenal dysplasia
PubMed Articles | EuropePMC Articles | Clinical Trials

Melnick-Fraser syndrome
PubMed Articles | EuropePMC Articles | Clinical Trials

breast cancer
PubMed Articles | EuropePMC Articles | Clinical Trials

breast cancer, familial
PubMed Articles | EuropePMC Articles | Clinical Trials

breast carcinoma
PubMed Articles | EuropePMC Articles | Clinical Trials

cancer of breast
PubMed Articles | EuropePMC Articles | Clinical Trials

malignant neoplasm of breast
PubMed Articles | EuropePMC Articles | Clinical Trials

malignant tumor of breast
PubMed Articles | EuropePMC Articles | Clinical Trials

mammary cancer
PubMed Articles | EuropePMC Articles | Clinical Trials

Brody myopathy
PubMed Articles | EuropePMC Articles | Clinical Trials

Brody disease
PubMed Articles | EuropePMC Articles | Clinical Trials

Brooke-Spiegler syndrome
PubMed Articles | EuropePMC Articles | Clinical Trials

BRSS
PubMed Articles | EuropePMC Articles | Clinical Trials

BSS
PubMed Articles | EuropePMC Articles | Clinical Trials

Spiegler-Brooke syndrome
PubMed Articles | EuropePMC Articles | Clinical Trials

Brugada syndrome
PubMed Articles | EuropePMC Articles | Clinical Trials

Pokkuri death syndrome
PubMed Articles | EuropePMC Articles | Clinical Trials

SUDS
PubMed Articles | EuropePMC Articles | Clinical Trials

SUNDS
PubMed Articles | EuropePMC Articles | Clinical Trials

bangungut
PubMed Articles | EuropePMC Articles | Clinical Trials

idiopathic ventricular fibrillation, Brugada type
PubMed Articles | EuropePMC Articles | Clinical Trials

sudden unexpected nocturnal death syndrome
PubMed Articles | EuropePMC Articles | Clinical Trials

sudden unexplained death syndrome
PubMed Articles | EuropePMC Articles | Clinical Trials

Buschke-Ollendorff syndrome
PubMed Articles | EuropePMC Articles | Clinical Trials

dermatofibrosis disseminata lenticularis
PubMed Articles | EuropePMC Articles | Clinical Trials

dermatofibrosis lenticularis disseminata
PubMed Articles | EuropePMC Articles | Clinical Trials

dermatofibrosis lenticularis disseminata with osteopoikilosis
PubMed Articles | EuropePMC Articles | Clinical Trials

dermatofibrosis, disseminated, with osteopoikilosis
PubMed Articles | EuropePMC Articles | Clinical Trials

dermatoosteopoikilosis
PubMed Articles | EuropePMC Articles | Clinical Trials

osteopathia condensans disseminata
PubMed Articles | EuropePMC Articles | Clinical Trials

C3 glomerulopathy
PubMed Articles | EuropePMC Articles | Clinical Trials

C3 glomerulonephritis
PubMed Articles | EuropePMC Articles | Clinical Trials

C3G
PubMed Articles | EuropePMC Articles | Clinical Trials

DDD
PubMed Articles | EuropePMC Articles | Clinical Trials

DDD/MPGNII
PubMed Articles | EuropePMC Articles | Clinical Trials

dense deposit disease
PubMed Articles | EuropePMC Articles | Clinical Trials

membranoproliferative glomerulonephritis type II
PubMed Articles | EuropePMC Articles | Clinical Trials

Caffey disease
PubMed Articles | EuropePMC Articles | Clinical Trials

Caffey-Silverman syndrome
PubMed Articles | EuropePMC Articles | Clinical Trials

de Toni-Caffey disease
PubMed Articles | EuropePMC Articles | Clinical Trials

infantile cortical hyperostosis
PubMed Articles | EuropePMC Articles | Clinical Trials

campomelic dysplasia
PubMed Articles | EuropePMC Articles | Clinical Trials

campomelic dwarfism
PubMed Articles | EuropePMC Articles | Clinical Trials

campomelic syndrome
PubMed Articles | EuropePMC Articles | Clinical Trials

camptomelic dysplasia
PubMed Articles | EuropePMC Articles | Clinical Trials

Camurati-Engelmann disease
PubMed Articles | EuropePMC Articles | Clinical Trials

CED
PubMed Articles | EuropePMC Articles | Clinical Trials

Camurati-Engelmann Syndrome
PubMed Articles | EuropePMC Articles | Clinical Trials

Engelmann's Disease
PubMed Articles | EuropePMC Articles | Clinical Trials

PDD
PubMed Articles | EuropePMC Articles | Clinical Trials

diaphyseal dysplasia
PubMed Articles | EuropePMC Articles | Clinical Trials

diaphyseal hyperostosis
PubMed Articles | EuropePMC Articles | Clinical Trials

Canavan disease
PubMed Articles | EuropePMC Articles | Clinical Trials

ACY2 deficiency
PubMed Articles | EuropePMC Articles | Clinical Trials

Aspa deficiency
PubMed Articles | EuropePMC Articles | Clinical Trials

Canavan's disease
PubMed Articles | EuropePMC Articles | Clinical Trials

aminoacylase 2 deficiency
PubMed Articles | EuropePMC Articles | Clinical Trials

aspartoacylase deficiency
PubMed Articles | EuropePMC Articles | Clinical Trials

Cantú syndrome
PubMed Articles | EuropePMC Articles | Clinical Trials

Cantu syndrome
PubMed Articles | EuropePMC Articles | Clinical Trials

hypertrichosis-osteochondrodysplasia-cardiomegaly syndrome
PubMed Articles | EuropePMC Articles | Clinical Trials

hypertrichotic osteochondrodysplasia
PubMed Articles | EuropePMC Articles | Clinical Trials

cap myopathy
PubMed Articles | EuropePMC Articles | Clinical Trials

cap disease
PubMed Articles | EuropePMC Articles | Clinical Trials

congenital myopathy with caps
PubMed Articles | EuropePMC Articles | Clinical Trials

capillary malformation-arteriovenous malformation syndrome
PubMed Articles | EuropePMC Articles | Clinical Trials

CM-AVM
PubMed Articles | EuropePMC Articles | Clinical Trials

capillary malformation-arteriovenous malformation
PubMed Articles | EuropePMC Articles | Clinical Trials

carbamoyl phosphate synthetase I deficiency
PubMed Articles | EuropePMC Articles | Clinical Trials

carbamoyl-phosphate synthase I deficiency disease
PubMed Articles | EuropePMC Articles | Clinical Trials

carbamyl-phosphate synthetase I deficiency disease
PubMed Articles | EuropePMC Articles | Clinical Trials

congenital hyperammonemia, type I
PubMed Articles | EuropePMC Articles | Clinical Trials

cardiofaciocutaneous syndrome
PubMed Articles | EuropePMC Articles | Clinical Trials

CFC syndrome
PubMed Articles | EuropePMC Articles | Clinical Trials

cardio-facio-cutaneous syndrome
PubMed Articles | EuropePMC Articles | Clinical Trials

Carney complex
PubMed Articles | EuropePMC Articles | Clinical Trials

Carney Syndrome
PubMed Articles | EuropePMC Articles | Clinical Trials

LAMB - Lentigines, atrial myxoma, mucocutaneous myoma, blue nevus syndrome
PubMed Articles | EuropePMC Articles | Clinical Trials

NAME - Nevi, atrial myxoma, skin myxoma, ephelides syndrome
PubMed Articles | EuropePMC Articles | Clinical Trials

carnitine-acylcarnitine translocase deficiency
PubMed Articles | EuropePMC Articles | Clinical Trials

CACT deficiency
PubMed Articles | EuropePMC Articles | Clinical Trials

carnitine acylcarnitine translocase deficiency
PubMed Articles | EuropePMC Articles | Clinical Trials

carnitine-acylcarnitine carrier deficiency
PubMed Articles | EuropePMC Articles | Clinical Trials

carnitine palmitoyltransferase I deficiency
PubMed Articles | EuropePMC Articles | Clinical Trials

CPT 1A deficiency
PubMed Articles | EuropePMC Articles | Clinical Trials

CPT I deficiency
PubMed Articles | EuropePMC Articles | Clinical Trials

CPT deficiency, hepatic, type I
PubMed Articles | EuropePMC Articles | Clinical Trials

carnitine palmitoyltransferase IA deficiency
PubMed Articles | EuropePMC Articles | Clinical Trials

liver form of carnitine palmitoyltransferase deficiency
PubMed Articles | EuropePMC Articles | Clinical Trials

carnitine palmitoyltransferase II deficiency
PubMed Articles | EuropePMC Articles | Clinical Trials

CPT II deficiency
PubMed Articles | EuropePMC Articles | Clinical Trials

CPT2 deficiency
PubMed Articles | EuropePMC Articles | Clinical Trials

carnitine palmitoyltransferase 2 deficiency
PubMed Articles | EuropePMC Articles | Clinical Trials

Carpenter syndrome
PubMed Articles | EuropePMC Articles | Clinical Trials

ACPS II
PubMed Articles | EuropePMC Articles | Clinical Trials

acrocephalopolysyndactyly 2
PubMed Articles | EuropePMC Articles | Clinical Trials

acrocephalopolysyndactyly type II
PubMed Articles | EuropePMC Articles | Clinical Trials

acrocephalosyndactyly, type II
PubMed Articles | EuropePMC Articles | Clinical Trials

type II acrocephalosyndactyly
PubMed Articles | EuropePMC Articles | Clinical Trials

cartilage-hair hypoplasia
PubMed Articles | EuropePMC Articles | Clinical Trials

CHH
PubMed Articles | EuropePMC Articles | Clinical Trials

McKusick's metaphyseal chondrodysplasia syndrome
PubMed Articles | EuropePMC Articles | Clinical Trials

cartilage-hair syndrome
PubMed Articles | EuropePMC Articles | Clinical Trials

metaphyseal chondrodysplasia, McKusick type
PubMed Articles | EuropePMC Articles | Clinical Trials

metaphyseal chondrodysplasia, recessive type
PubMed Articles | EuropePMC Articles | Clinical Trials

CASK-related intellectual disability
PubMed Articles | EuropePMC Articles | Clinical Trials

CASK-related disorders
PubMed Articles | EuropePMC Articles | Clinical Trials

X-linked intellectual deficit, Najm type
PubMed Articles | EuropePMC Articles | Clinical Trials

catecholaminergic polymorphic ventricular tachycardia
PubMed Articles | EuropePMC Articles | Clinical Trials

CPVT
PubMed Articles | EuropePMC Articles | Clinical Trials

Catecholamine-induced polymorphic ventricular tachycardia
PubMed Articles | EuropePMC Articles | Clinical Trials

FPVT
PubMed Articles | EuropePMC Articles | Clinical Trials

bidirectional tachycardia induced by catecholamines
PubMed Articles | EuropePMC Articles | Clinical Trials

familial polymorphic ventricular tachycardia
PubMed Articles | EuropePMC Articles | Clinical Trials

CATSPER1-related nonsyndromic male infertility
PubMed Articles | EuropePMC Articles | Clinical Trials

CATSPER-related nonsyndromic male infertility
PubMed Articles | EuropePMC Articles | Clinical Trials

CATSPER1-related male infertility
PubMed Articles | EuropePMC Articles | Clinical Trials

caudal regression syndrome
PubMed Articles | EuropePMC Articles | Clinical Trials

caudal dysgenesis syndrome
PubMed Articles | EuropePMC Articles | Clinical Trials

caudal dysplasia sequence
PubMed Articles | EuropePMC Articles | Clinical Trials

caudal regression sequence
PubMed Articles | EuropePMC Articles | Clinical Trials

sacral agenesis
PubMed Articles | EuropePMC Articles | Clinical Trials

sacral defect with anterior meningocele
PubMed Articles | EuropePMC Articles | Clinical Trials

CAV3-related distal myopathy
PubMed Articles | EuropePMC Articles | Clinical Trials

MPDT
PubMed Articles | EuropePMC Articles | Clinical Trials

distal myopathy, Tateyama type
PubMed Articles | EuropePMC Articles | Clinical Trials

celiac disease
PubMed Articles | EuropePMC Articles | Clinical Trials

celiac sprue
PubMed Articles | EuropePMC Articles | Clinical Trials

gluten enteropathy
PubMed Articles | EuropePMC Articles | Clinical Trials

sprue
PubMed Articles | EuropePMC Articles | Clinical Trials

central core disease
PubMed Articles | EuropePMC Articles | Clinical Trials

CCD
PubMed Articles | EuropePMC Articles | Clinical Trials

CCO
PubMed Articles | EuropePMC Articles | Clinical Trials

Central Core Myopathy
PubMed Articles | EuropePMC Articles | Clinical Trials

Myopathy, Central Core
PubMed Articles | EuropePMC Articles | Clinical Trials

Shy-Magee Syndrome
PubMed Articles | EuropePMC Articles | Clinical Trials

centronuclear myopathy
PubMed Articles | EuropePMC Articles | Clinical Trials

CNM
PubMed Articles | EuropePMC Articles | Clinical Trials

myopathy, centronuclear
PubMed Articles | EuropePMC Articles | Clinical Trials

cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy
PubMed Articles | EuropePMC Articles | Clinical Trials

CADASIL
PubMed Articles | EuropePMC Articles | Clinical Trials

cerebral arteriopathy with subcortical infarcts and leukoencephalopathy
PubMed Articles | EuropePMC Articles | Clinical Trials

familial vascular leukoencephalopathy
PubMed Articles | EuropePMC Articles | Clinical Trials

hereditary dementia, multi-infarct type
PubMed Articles | EuropePMC Articles | Clinical Trials

cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy
PubMed Articles | EuropePMC Articles | Clinical Trials

CARASIL
PubMed Articles | EuropePMC Articles | Clinical Trials

Maeda syndrome
PubMed Articles | EuropePMC Articles | Clinical Trials

Nemoto disease
PubMed Articles | EuropePMC Articles | Clinical Trials

familial young-adult-onset arteriosclerotic leukoencephalopathy with alopecia and lumbago without arterial hypertension
PubMed Articles | EuropePMC Articles | Clinical Trials

cerebral cavernous malformation
PubMed Articles | EuropePMC Articles | Clinical Trials

CCM
PubMed Articles | EuropePMC Articles | Clinical Trials

central nervous system cavernous hemangioma
PubMed Articles | EuropePMC Articles | Clinical Trials

cerebral cavernous hemangioma
PubMed Articles | EuropePMC Articles | Clinical Trials

familial cavernous hemangioma
PubMed Articles | EuropePMC Articles | Clinical Trials

familial cavernous malformation
PubMed Articles | EuropePMC Articles | Clinical Trials

familial cerebral cavernous angioma
PubMed Articles | EuropePMC Articles | Clinical Trials

familial cerebral cavernous malformation
PubMed Articles | EuropePMC Articles | Clinical Trials

intracerebral cavernous hemangioma
PubMed Articles | EuropePMC Articles | Clinical Trials

cerebral folate transport deficiency
PubMed Articles | EuropePMC Articles | Clinical Trials

FOLR1 deficiency
PubMed Articles | EuropePMC Articles | Clinical Trials

cerebral folate deficiency
PubMed Articles | EuropePMC Articles | Clinical Trials

neurodegeneration due to cerebral folate transport deficiency
PubMed Articles | EuropePMC Articles | Clinical Trials

cerebrotendinous xanthomatosis
PubMed Articles | EuropePMC Articles | Clinical Trials

CTX
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Van Bogaert-Scherer-Epstein Disease
PubMed Articles | EuropePMC Articles | Clinical Trials

Xanthomatosis, Cerebrotendinous
PubMed Articles | EuropePMC Articles | Clinical Trials

cerebral cholesterinosis
PubMed Articles | EuropePMC Articles | Clinical Trials

cerebrotendinous cholesterinosis
PubMed Articles | EuropePMC Articles | Clinical Trials

cholestanol storage disease
PubMed Articles | EuropePMC Articles | Clinical Trials

Chanarin-Dorfman syndrome
PubMed Articles | EuropePMC Articles | Clinical Trials

CDS
PubMed Articles | EuropePMC Articles | Clinical Trials

Chanarin-Dorfman disease
PubMed Articles | EuropePMC Articles | Clinical Trials

Ichthyotic neutral lipid storage disease
PubMed Articles | EuropePMC Articles | Clinical Trials

Triglyceride storage disease with ichthyosis
PubMed Articles | EuropePMC Articles | Clinical Trials

neutral lipid storage disease with ichthyosis
PubMed Articles | EuropePMC Articles | Clinical Trials

triglyceride storage disease with impaired long-chain fatty acid oxidation
PubMed Articles | EuropePMC Articles | Clinical Trials

Char syndrome
PubMed Articles | EuropePMC Articles | Clinical Trials

Patent ductus arteriosus with facial dysmorphism and abnormal fifth digits
PubMed Articles | EuropePMC Articles | Clinical Trials

Charcot-Marie-Tooth disease
PubMed Articles | EuropePMC Articles | Clinical Trials

CMT
PubMed Articles | EuropePMC Articles | Clinical Trials

Charcot-Marie-Tooth hereditary neuropathy
PubMed Articles | EuropePMC Articles | Clinical Trials

Charcot-Marie-Tooth syndrome
PubMed Articles | EuropePMC Articles | Clinical Trials

HMSN
PubMed Articles | EuropePMC Articles | Clinical Trials

PMA
PubMed Articles | EuropePMC Articles | Clinical Trials

hereditary motor and sensory neuropathy
PubMed Articles | EuropePMC Articles | Clinical Trials

peroneal muscular atrophy
PubMed Articles | EuropePMC Articles | Clinical Trials

CHARGE syndrome
PubMed Articles | EuropePMC Articles | Clinical Trials

CHARGE acronym (Coloboma, Heart defect, Atresia choanae, Retarded growth and development, Genital hypoplasia, Ear anomalies/deafness)
PubMed Articles | EuropePMC Articles | Clinical Trials

CHARGE association
PubMed Articles | EuropePMC Articles | Clinical Trials

Hall-Hittner syndrome
PubMed Articles | EuropePMC Articles | Clinical Trials

Chediak-Higashi syndrome
PubMed Articles | EuropePMC Articles | Clinical Trials

CHS
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Chediak-Steinbrinck-Higashi syndrome
PubMed Articles | EuropePMC Articles | Clinical Trials

oculocutaneous albinism with leukocyte defect
PubMed Articles | EuropePMC Articles | Clinical Trials

cherubism
PubMed Articles | EuropePMC Articles | Clinical Trials

Familial benign giant-cell tumor of the jaw
PubMed Articles | EuropePMC Articles | Clinical Trials

Familial fibrous dysplasia of jaw
PubMed Articles | EuropePMC Articles | Clinical Trials

Familial multilocular cystic disease of the jaws
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childhood myocerebrohepatopathy spectrum
PubMed Articles | EuropePMC Articles | Clinical Trials

MCHS
PubMed Articles | EuropePMC Articles | Clinical Trials

CHMP2B-related frontotemporal dementia
PubMed Articles | EuropePMC Articles | Clinical Trials

DTM1
PubMed Articles | EuropePMC Articles | Clinical Trials

FTD-3
PubMed Articles | EuropePMC Articles | Clinical Trials

FTD-CHMP2B
PubMed Articles | EuropePMC Articles | Clinical Trials

FTD3
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chromosome 3-linked frontotemporal dementia
PubMed Articles | EuropePMC Articles | Clinical Trials

cholesteryl ester storage disease
PubMed Articles | EuropePMC Articles | Clinical Trials

CESD
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LAL deficiency
PubMed Articles | EuropePMC Articles | Clinical Trials

LIPA deficiency
PubMed Articles | EuropePMC Articles | Clinical Trials

cholesterol ester hydrolase deficiency
PubMed Articles | EuropePMC Articles | Clinical Trials

cholesterol ester storage disease
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lysosomal acid lipase deficiency
PubMed Articles | EuropePMC Articles | Clinical Trials

CHOPS syndrome
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cognitive impairment, coarse facies, heart defects, obesity, pulmonary involvement, short stature, and skeletal dysplasia
PubMed Articles | EuropePMC Articles | Clinical Trials

chordoma
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CHDM
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chordocarcinoma
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chordoepithelioma
PubMed Articles | EuropePMC Articles | Clinical Trials

notochordal sarcoma
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notochordoma
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chorea-acanthocytosis
PubMed Articles | EuropePMC Articles | Clinical Trials

CHAC
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acanthocytosis with neurologic disorder
PubMed Articles | EuropePMC Articles | Clinical Trials

choreoacanthocytosis
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choroideremia
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TCD
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choroidal sclerosis
PubMed Articles | EuropePMC Articles | Clinical Trials

progressive tapetochoroidal dystrophy
PubMed Articles | EuropePMC Articles | Clinical Trials

Christianson syndrome
PubMed Articles | EuropePMC Articles | Clinical Trials

Angelman-like syndrome, X-linked
PubMed Articles | EuropePMC Articles | Clinical Trials

intellectual deficit, X-linked, South African type
PubMed Articles | EuropePMC Articles | Clinical Trials

chronic atrial and intestinal dysrhythmia
PubMed Articles | EuropePMC Articles | Clinical Trials

CAID
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cohesinopathy affecting heart and gut rhythm
PubMed Articles | EuropePMC Articles | Clinical Trials

chronic granulomatous disease
PubMed Articles | EuropePMC Articles | Clinical Trials

CGD
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X-linked chronic granulomatous disease
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autosomal recessive chronic granulomatous disease
PubMed Articles | EuropePMC Articles | Clinical Trials

granulomatous disease, chronic
PubMed Articles | EuropePMC Articles | Clinical Trials

CHST3-related skeletal dysplasia
PubMed Articles | EuropePMC Articles | Clinical Trials

CDMD
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SED with luxations, CHST3 type
PubMed Articles | EuropePMC Articles | Clinical Trials

SED, Omani type
PubMed Articles | EuropePMC Articles | Clinical Trials

autosomal recessive Larsen syndrome
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chondrodysplasia with multiple dislocations
PubMed Articles | EuropePMC Articles | Clinical Trials

humero-spinal dysostosis
PubMed Articles | EuropePMC Articles | Clinical Trials

spondyloepiphyseal dysplasia with congenital joint dislocations
PubMed Articles | EuropePMC Articles | Clinical Trials

spondyloepiphyseal dysplasia, Omani type
PubMed Articles | EuropePMC Articles | Clinical Trials

chylomicron retention disease
PubMed Articles | EuropePMC Articles | Clinical Trials

Anderson disease
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Anderson syndrome
PubMed Articles | EuropePMC Articles | Clinical Trials

CMRD
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hypobetalipoproteinemia with accumulation of apolipoprotein B-like protein in intestinal cells
PubMed Articles | EuropePMC Articles | Clinical Trials

lipid transport defect of intestine
PubMed Articles | EuropePMC Articles | Clinical Trials

citrullinemia
PubMed Articles | EuropePMC Articles | Clinical Trials

CIT
PubMed Articles | EuropePMC Articles | Clinical Trials

Citrullinuria
PubMed Articles | EuropePMC Articles | Clinical Trials

cleidocranial dysplasia
PubMed Articles | EuropePMC Articles | Clinical Trials

Marie-Sainton syndrome
PubMed Articles | EuropePMC Articles | Clinical Trials

cleidocranial dysostosis
PubMed Articles | EuropePMC Articles | Clinical Trials

clopidogrel resistance
PubMed Articles | EuropePMC Articles | Clinical Trials

CYP2C19-related poor drug metabolism
PubMed Articles | EuropePMC Articles | Clinical Trials

poor metabolism of clopidogrel
PubMed Articles | EuropePMC Articles | Clinical Trials

resistance to clopidogrel
PubMed Articles | EuropePMC Articles | Clinical Trials

Clouston syndrome
PubMed Articles | EuropePMC Articles | Clinical Trials

Clouston hidrotic ectodermal dysplasia
PubMed Articles | EuropePMC Articles | Clinical Trials

Clouston's syndrome
PubMed Articles | EuropePMC Articles | Clinical Trials

ECTD2
PubMed Articles | EuropePMC Articles | Clinical Trials

HED2
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ectodermal dysplasia 2, Clouston type
PubMed Articles | EuropePMC Articles | Clinical Trials

hidrotic ectodermal dysplasia 2
PubMed Articles | EuropePMC Articles | Clinical Trials

Coats plus syndrome
PubMed Articles | EuropePMC Articles | Clinical Trials

CRMCC
PubMed Articles | EuropePMC Articles | Clinical Trials

cerebroretinal microangiopathy with calcifications and cysts
PubMed Articles | EuropePMC Articles | Clinical Trials

Cockayne syndrome
PubMed Articles | EuropePMC Articles | Clinical Trials

CS
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dwarfism-retinal atrophy-deafness syndrome
PubMed Articles | EuropePMC Articles | Clinical Trials

progeria-like syndrome
PubMed Articles | EuropePMC Articles | Clinical Trials

progeroid nanism
PubMed Articles | EuropePMC Articles | Clinical Trials

Coffin-Lowry syndrome
PubMed Articles | EuropePMC Articles | Clinical Trials

CLS
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Mental retardation with osteocartilaginous abnormalities
PubMed Articles | EuropePMC Articles | Clinical Trials

Coffin-Siris syndrome
PubMed Articles | EuropePMC Articles | Clinical Trials

dwarfism-onychodysplasia
PubMed Articles | EuropePMC Articles | Clinical Trials

fifth digit syndrome
PubMed Articles | EuropePMC Articles | Clinical Trials

mental retardation with hypoplastic fifth fingernails and toenails
PubMed Articles | EuropePMC Articles | Clinical Trials

short stature-onychodysplasia
PubMed Articles | EuropePMC Articles | Clinical Trials

COG5-congenital disorder of glycosylation
PubMed Articles | EuropePMC Articles | Clinical Trials

CDG IIi
PubMed Articles | EuropePMC Articles | Clinical Trials

CDG2I
PubMed Articles | EuropePMC Articles | Clinical Trials

CDGIIi
PubMed Articles | EuropePMC Articles | Clinical Trials

COG5-CDG
PubMed Articles | EuropePMC Articles | Clinical Trials

carbohydrate deficient glycoprotein syndrome type IIi
PubMed Articles | EuropePMC Articles | Clinical Trials

congenital disorder of glycosylation type IIi
PubMed Articles | EuropePMC Articles | Clinical Trials

Cohen syndrome
PubMed Articles | EuropePMC Articles | Clinical Trials

Hypotonia, obesity, and prominent incisors
PubMed Articles | EuropePMC Articles | Clinical Trials

Norio syndrome
PubMed Articles | EuropePMC Articles | Clinical Trials

Pepper syndrome
PubMed Articles | EuropePMC Articles | Clinical Trials

obesity-hypotonia syndrome
PubMed Articles | EuropePMC Articles | Clinical Trials

prominent incisors-obesity-hypotonia syndrome
PubMed Articles | EuropePMC Articles | Clinical Trials

COL4A1-related brain small-vessel disease
PubMed Articles | EuropePMC Articles | Clinical Trials

brain small-vessel disease with hemorrhage
PubMed Articles | EuropePMC Articles | Clinical Trials

cold-induced sweating syndrome
PubMed Articles | EuropePMC Articles | Clinical Trials

CISS
PubMed Articles | EuropePMC Articles | Clinical Trials

CNTF receptor-related disorders
PubMed Articles | EuropePMC Articles | Clinical Trials

Crisponi syndrome
PubMed Articles | EuropePMC Articles | Clinical Trials

Sohar-Crisponi syndrome
PubMed Articles | EuropePMC Articles | Clinical Trials

Cole disease
PubMed Articles | EuropePMC Articles | Clinical Trials

guttate hypopigmentation and punctate palmoplantar keratoderma with or without ectopic calcification
PubMed Articles | EuropePMC Articles | Clinical Trials

collagen VI-related myopathy
PubMed Articles | EuropePMC Articles | Clinical Trials

ColVI myopathies
PubMed Articles | EuropePMC Articles | Clinical Trials

collagen VI-related myopathies
PubMed Articles | EuropePMC Articles | Clinical Trials

collagen type VI-related disorders
PubMed Articles | EuropePMC Articles | Clinical Trials

coloboma
PubMed Articles | EuropePMC Articles | Clinical Trials

congenital ocular coloboma
PubMed Articles | EuropePMC Articles | Clinical Trials

microphthalmia, isolated, with coloboma
PubMed Articles | EuropePMC Articles | Clinical Trials

ocular coloboma
PubMed Articles | EuropePMC Articles | Clinical Trials

uveoretinal coloboma
PubMed Articles | EuropePMC Articles | Clinical Trials

color vision deficiency
PubMed Articles | EuropePMC Articles | Clinical Trials

color blindness
PubMed Articles | EuropePMC Articles | Clinical Trials

color vision defects
PubMed Articles | EuropePMC Articles | Clinical Trials

defective color vision
PubMed Articles | EuropePMC Articles | Clinical Trials

vision defect, color
PubMed Articles | EuropePMC Articles | Clinical Trials

combined malonic and methylmalonic aciduria
PubMed Articles | EuropePMC Articles | Clinical Trials

CMAMMA
PubMed Articles | EuropePMC Articles | Clinical Trials

combined pituitary hormone deficiency
PubMed Articles | EuropePMC Articles | Clinical Trials

CPHD
PubMed Articles | EuropePMC Articles | Clinical Trials

panhypopituitarism
PubMed Articles | EuropePMC Articles | Clinical Trials

common variable immune deficiency
PubMed Articles | EuropePMC Articles | Clinical Trials

CVID
PubMed Articles | EuropePMC Articles | Clinical Trials

common variable hypogammaglobulinemia
PubMed Articles | EuropePMC Articles | Clinical Trials

common variable immunodeficiency
PubMed Articles | EuropePMC Articles | Clinical Trials

immunodeficiency, common variable
PubMed Articles | EuropePMC Articles | Clinical Trials

complement component 2 deficiency
PubMed Articles | EuropePMC Articles | Clinical Trials

C2 deficiency
PubMed Articles | EuropePMC Articles | Clinical Trials

C2D
PubMed Articles | EuropePMC Articles | Clinical Trials

complement 2 deficiency
PubMed Articles | EuropePMC Articles | Clinical Trials

complement component 8 deficiency
PubMed Articles | EuropePMC Articles | Clinical Trials

C8 deficiency
PubMed Articles | EuropePMC Articles | Clinical Trials

complement factor I deficiency
PubMed Articles | EuropePMC Articles | Clinical Trials

C3 inactivator deficiency
PubMed Articles | EuropePMC Articles | Clinical Trials

complement component 3 inactivator deficiency
PubMed Articles | EuropePMC Articles | Clinical Trials

complete LCAT deficiency
PubMed Articles | EuropePMC Articles | Clinical Trials

FLD
PubMed Articles | EuropePMC Articles | Clinical Trials

LCAT deficiency
PubMed Articles | EuropePMC Articles | Clinical Trials

Norum disease
PubMed Articles | EuropePMC Articles | Clinical Trials

Norum's disease
PubMed Articles | EuropePMC Articles | Clinical Trials

familial LCAT deficiency
PubMed Articles | EuropePMC Articles | Clinical Trials

familial lecithin-cholesterol acyltransferase deficiency
PubMed Articles | EuropePMC Articles | Clinical Trials

lecithin acyltransferase deficiency
PubMed Articles | EuropePMC Articles | Clinical Trials

lecithin:cholesterol acyltransferase deficiency
PubMed Articles | EuropePMC Articles | Clinical Trials

cone-rod dystrophy
PubMed Articles | EuropePMC Articles | Clinical Trials

CORD
PubMed Articles | EuropePMC Articles | Clinical Trials

CRD
PubMed Articles | EuropePMC Articles | Clinical Trials

cone-rod degeneration
PubMed Articles | EuropePMC Articles | Clinical Trials

cone-rod retinal dystrophy
PubMed Articles | EuropePMC Articles | Clinical Trials

retinal cone-rod dystrophy
PubMed Articles | EuropePMC Articles | Clinical Trials

tapetoretinal degeneration
PubMed Articles | EuropePMC Articles | Clinical Trials

congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency
PubMed Articles | EuropePMC Articles | Clinical Trials

11 beta hydroxylase deficiency
PubMed Articles | EuropePMC Articles | Clinical Trials

11b hydroxylase deficiency
PubMed Articles | EuropePMC Articles | Clinical Trials

P450C11B1 deficiency
PubMed Articles | EuropePMC Articles | Clinical Trials

adrenal hyperplasia, hypertensive form
PubMed Articles | EuropePMC Articles | Clinical Trials

deficiency of steroid 11-beta-monooxygenase
PubMed Articles | EuropePMC Articles | Clinical Trials

steroid 11 beta hydroxylase deficiency
PubMed Articles | EuropePMC Articles | Clinical Trials

congenital afibrinogenemia
PubMed Articles | EuropePMC Articles | Clinical Trials

afibrinogenemia
PubMed Articles | EuropePMC Articles | Clinical Trials

familial afibrinogenemia
PubMed Articles | EuropePMC Articles | Clinical Trials

congenital bilateral absence of the vas deferens
PubMed Articles | EuropePMC Articles | Clinical Trials

Absence of vas deferens
PubMed Articles | EuropePMC Articles | Clinical Trials

Absent vasa
PubMed Articles | EuropePMC Articles | Clinical Trials

CAVD
PubMed Articles | EuropePMC Articles | Clinical Trials

CBAVD
PubMed Articles | EuropePMC Articles | Clinical Trials

Congenital absence of vas deferens
PubMed Articles | EuropePMC Articles | Clinical Trials

Congenital aplasia of vas deferens
PubMed Articles | EuropePMC Articles | Clinical Trials

congenital bilateral absence of vas deferens
PubMed Articles | EuropePMC Articles | Clinical Trials

congenital bile acid synthesis defect type 1
PubMed Articles | EuropePMC Articles | Clinical Trials

3beta-HSDH deficiency
PubMed Articles | EuropePMC Articles | Clinical Trials

3beta-hydroxy-delta-5-C27-steroid dehydrogenase deficiency
PubMed Articles | EuropePMC Articles | Clinical Trials

3beta-hydroxy-delta-5-C27-steroid oxidoreductase deficiency
PubMed Articles | EuropePMC Articles | Clinical Trials

CBAS1
PubMed Articles | EuropePMC Articles | Clinical Trials

congenital bile acid synthesis defect type 2
PubMed Articles | EuropePMC Articles | Clinical Trials

CBAS2
PubMed Articles | EuropePMC Articles | Clinical Trials

cholestasis with delta(4)-3-oxosteroid 5-beta-reductase deficiency
PubMed Articles | EuropePMC Articles | Clinical Trials

congenital cataracts, facial dysmorphism, and neuropathy
PubMed Articles | EuropePMC Articles | Clinical Trials

CCFDN
PubMed Articles | EuropePMC Articles | Clinical Trials

congenital central hypoventilation syndrome
PubMed Articles | EuropePMC Articles | Clinical Trials

CCHS
PubMed Articles | EuropePMC Articles | Clinical Trials

Haddad syndrome
PubMed Articles | EuropePMC Articles | Clinical Trials

Ondine Syndrome
PubMed Articles | EuropePMC Articles | Clinical Trials

Ondine-Hirschsprung disease
PubMed Articles | EuropePMC Articles | Clinical Trials

congenital central hypoventilation
PubMed Articles | EuropePMC Articles | Clinical Trials

congenital failure of autonomic control
PubMed Articles | EuropePMC Articles | Clinical Trials

congenital contractural arachnodactyly
PubMed Articles | EuropePMC Articles | Clinical Trials

Beals syndrome
PubMed Articles | EuropePMC Articles | Clinical Trials

Beals-Hecht syndrome
PubMed Articles | EuropePMC Articles | Clinical Trials

CCA
PubMed Articles | EuropePMC Articles | Clinical Trials

DA9
PubMed Articles | EuropePMC Articles | Clinical Trials

arthrogyroposis, distal, type 9
PubMed Articles | EuropePMC Articles | Clinical Trials

contractural arachnodactyly, congenital
PubMed Articles | EuropePMC Articles | Clinical Trials

distal arthrogyropsis type 9
PubMed Articles | EuropePMC Articles | Clinical Trials

congenital deafness with labyrinthine aplasia, microtia, and microdontia
PubMed Articles | EuropePMC Articles | Clinical Trials

LAMM syndrome
PubMed Articles | EuropePMC Articles | Clinical Trials

congenital deafness with inner ear agenesis, microtia, and microdontia
PubMed Articles | EuropePMC Articles | Clinical Trials

deafness with LAMM
PubMed Articles | EuropePMC Articles | Clinical Trials

congenital diaphragmatic hernia
PubMed Articles | EuropePMC Articles | Clinical Trials

congenital diaphragmatic defect
PubMed Articles | EuropePMC Articles | Clinical Trials

congenital dyserythropoietic anemia
PubMed Articles | EuropePMC Articles | Clinical Trials

Anemia, Dyserythropoietic, Congenital
PubMed Articles | EuropePMC Articles | Clinical Trials

CDA
PubMed Articles | EuropePMC Articles | Clinical Trials

congenital fiber-type disproportion
PubMed Articles | EuropePMC Articles | Clinical Trials

CFTD
PubMed Articles | EuropePMC Articles | Clinical Trials

CFTDM
PubMed Articles | EuropePMC Articles | Clinical Trials

congenital myopathy with fiber type disproportion
PubMed Articles | EuropePMC Articles | Clinical Trials

congenital fibrosis of the extraocular muscles
PubMed Articles | EuropePMC Articles | Clinical Trials

CFEOM
PubMed Articles | EuropePMC Articles | Clinical Trials

congenital external ophthalmoplegia
PubMed Articles | EuropePMC Articles | Clinical Trials

congenital fibrosis of extraocular muscles
PubMed Articles | EuropePMC Articles | Clinical Trials

congenital fibrosis syndrome
PubMed Articles | EuropePMC Articles | Clinical Trials

general fibrosis syndrome
PubMed Articles | EuropePMC Articles | Clinical Trials

congenital generalized lipodystrophy
PubMed Articles | EuropePMC Articles | Clinical Trials

BSCL
PubMed Articles | EuropePMC Articles | Clinical Trials

Berardinelli-Seip congenital lipodystrophy
PubMed Articles | EuropePMC Articles | Clinical Trials

Berardinelli-Seip syndrome
PubMed Articles | EuropePMC Articles | Clinical Trials

Brunzell syndrome (with bone cysts)
PubMed Articles | EuropePMC Articles | Clinical Trials

Seip syndrome
PubMed Articles | EuropePMC Articles | Clinical Trials

generalized lipodystrophy
PubMed Articles | EuropePMC Articles | Clinical Trials

lipodystrophy, congenital generalized
PubMed Articles | EuropePMC Articles | Clinical Trials

total lipodystrophy
PubMed Articles | EuropePMC Articles | Clinical Trials

congenital hemidysplasia with ichthyosiform erythroderma and limb defects
PubMed Articles | EuropePMC Articles | Clinical Trials

CHILD syndrome
PubMed Articles | EuropePMC Articles | Clinical Trials

Ichthyosiform erythroderma, unilateral, with ipsilateral malformations, especially absence deformity of limbs
PubMed Articles | EuropePMC Articles | Clinical Trials

congenital hepatic fibrosis
PubMed Articles | EuropePMC Articles | Clinical Trials

CHF
PubMed Articles | EuropePMC Articles | Clinical Trials

congenital fibrose liver
PubMed Articles | EuropePMC Articles | Clinical Trials

congenital hyperinsulinism
PubMed Articles | EuropePMC Articles | Clinical Trials

PHHI hypoglycemia
PubMed Articles | EuropePMC Articles | Clinical Trials

hyperinsulinemia hypoglycemia of infancy
PubMed Articles | EuropePMC Articles | Clinical Trials

infancy hyperinsulinemia hypoglycemia
PubMed Articles | EuropePMC Articles | Clinical Trials

neonatal hyperinsulinism
PubMed Articles | EuropePMC Articles | Clinical Trials

persistent hyperinsulinemia hypoglycemia of infancy
PubMed Articles | EuropePMC Articles | Clinical Trials

persistent hyperinsulinemic hypoglycemia
PubMed Articles | EuropePMC Articles | Clinical Trials

congenital hypothyroidism
PubMed Articles | EuropePMC Articles | Clinical Trials

CH
PubMed Articles | EuropePMC Articles | Clinical Trials

CHT
PubMed Articles | EuropePMC Articles | Clinical Trials

congenital myxedema
PubMed Articles | EuropePMC Articles | Clinical Trials

cretinism
PubMed Articles | EuropePMC Articles | Clinical Trials

congenital insensitivity to pain
PubMed Articles | EuropePMC Articles | Clinical Trials

CIP
PubMed Articles | EuropePMC Articles | Clinical Trials

asymbolia for pain
PubMed Articles | EuropePMC Articles | Clinical Trials

channelopathy-associated insensitivity to pain
PubMed Articles | EuropePMC Articles | Clinical Trials

congenital analgesia
PubMed Articles | EuropePMC Articles | Clinical Trials

congenital indifference to pain
PubMed Articles | EuropePMC Articles | Clinical Trials

congenital pain indifference
PubMed Articles | EuropePMC Articles | Clinical Trials

indifference to pain, congenital, autosomal recessive
PubMed Articles | EuropePMC Articles | Clinical Trials

pain insensitivity, congenital
PubMed Articles | EuropePMC Articles | Clinical Trials

congenital insensitivity to pain with anhidrosis
PubMed Articles | EuropePMC Articles | Clinical Trials

CIPA
PubMed Articles | EuropePMC Articles | Clinical Trials

HSAN type IV
PubMed Articles | EuropePMC Articles | Clinical Trials

HSAN4
PubMed Articles | EuropePMC Articles | Clinical Trials

hereditary insensitivity to pain with anhidrosis
PubMed Articles | EuropePMC Articles | Clinical Trials

hereditary sensory and autonomic neuropathy type IV
PubMed Articles | EuropePMC Articles | Clinical Trials

hereditary sensory and autonomic neuropathy, type 4
PubMed Articles | EuropePMC Articles | Clinical Trials

congenital leptin deficiency
PubMed Articles | EuropePMC Articles | Clinical Trials

LEPD
PubMed Articles | EuropePMC Articles | Clinical Trials

leptin deficiency
PubMed Articles | EuropePMC Articles | Clinical Trials

obesity due to congenital leptin deficiency
PubMed Articles | EuropePMC Articles | Clinical Trials

obesity, morbid, due to leptin deficiency
PubMed Articles | EuropePMC Articles | Clinical Trials

obesity, morbid, nonsyndromic 1
PubMed Articles | EuropePMC Articles | Clinical Trials

obesity, severe, due to leptin deficiency
PubMed Articles | EuropePMC Articles | Clinical Trials

congenital mirror movement disorder
PubMed Articles | EuropePMC Articles | Clinical Trials

CMM
PubMed Articles | EuropePMC Articles | Clinical Trials

bimanual synergia
PubMed Articles | EuropePMC Articles | Clinical Trials

bimanual synkinesis
PubMed Articles | EuropePMC Articles | Clinical Trials

congenital mirror movements
PubMed Articles | EuropePMC Articles | Clinical Trials

mirror movements
PubMed Articles | EuropePMC Articles | Clinical Trials

congenital myasthenic syndrome
PubMed Articles | EuropePMC Articles | Clinical Trials

CMS
PubMed Articles | EuropePMC Articles | Clinical Trials

congenital myasthenia
PubMed Articles | EuropePMC Articles | Clinical Trials

congenital myasthenic syndromes
PubMed Articles | EuropePMC Articles | Clinical Trials

congenital neuronal ceroid lipofuscinosis
PubMed Articles | EuropePMC Articles | Clinical Trials

CLN10
PubMed Articles | EuropePMC Articles | Clinical Trials

cathepsin D deficiency
PubMed Articles | EuropePMC Articles | Clinical Trials

cathepsin D deficient neuronal ceroid lipofuscinosis cathepsin D
PubMed Articles | EuropePMC Articles | Clinical Trials

neuronal ceroid lipofuscinosis 10
PubMed Articles | EuropePMC Articles | Clinical Trials

neuronal ceroid lipofuscinosis due to cathepsin D deficiency
PubMed Articles | EuropePMC Articles | Clinical Trials

congenital plasminogen deficiency
PubMed Articles | EuropePMC Articles | Clinical Trials

hypoplasminogenemia
PubMed Articles | EuropePMC Articles | Clinical Trials

plasminogen deficiency, type I
PubMed Articles | EuropePMC Articles | Clinical Trials

congenital stromal corneal dystrophy
PubMed Articles | EuropePMC Articles | Clinical Trials

CSCD
PubMed Articles | EuropePMC Articles | Clinical Trials

DACS
PubMed Articles | EuropePMC Articles | Clinical Trials

congenital hereditary stromal dystrophy of the cornea
PubMed Articles | EuropePMC Articles | Clinical Trials

congenital stromal dystrophy of the cornea
PubMed Articles | EuropePMC Articles | Clinical Trials

corneal dystrophy, congenital stromal
PubMed Articles | EuropePMC Articles | Clinical Trials

decorin-associated congenital stromal corneal dystrophy
PubMed Articles | EuropePMC Articles | Clinical Trials

dystrophia corneae parenchymatosa congenita
PubMed Articles | EuropePMC Articles | Clinical Trials

congenital sucrase-isomaltase deficiency
PubMed Articles | EuropePMC Articles | Clinical Trials

CSID
PubMed Articles | EuropePMC Articles | Clinical Trials

SI deficiency
PubMed Articles | EuropePMC Articles | Clinical Trials

congenital sucrose intolerance
PubMed Articles | EuropePMC Articles | Clinical Trials

congenital sucrose-isomaltose malabsorption
PubMed Articles | EuropePMC Articles | Clinical Trials

disaccharide intolerance I
PubMed Articles | EuropePMC Articles | Clinical Trials

sucrase-isomaltase deficiency
PubMed Articles | EuropePMC Articles | Clinical Trials

core binding factor acute myeloid leukemia
PubMed Articles | EuropePMC Articles | Clinical Trials

CBF acute myeloid leukemia
PubMed Articles | EuropePMC Articles | Clinical Trials

CBF-AML
PubMed Articles | EuropePMC Articles | Clinical Trials

core-binding factor AML
PubMed Articles | EuropePMC Articles | Clinical Trials

Cornelia de Lange syndrome
PubMed Articles | EuropePMC Articles | Clinical Trials

BDLS
PubMed Articles | EuropePMC Articles | Clinical Trials

Brachmann-de Lange syndrome
PubMed Articles | EuropePMC Articles | Clinical Trials

CdLS
PubMed Articles | EuropePMC Articles | Clinical Trials

de Lange syndrome
PubMed Articles | EuropePMC Articles | Clinical Trials

typus degenerativus amstelodamensis
PubMed Articles | EuropePMC Articles | Clinical Trials

corticosteroid-binding globulin deficiency
PubMed Articles | EuropePMC Articles | Clinical Trials

CBG deficiency
PubMed Articles | EuropePMC Articles | Clinical Trials

transcortin deficiency
PubMed Articles | EuropePMC Articles | Clinical Trials

corticosterone methyloxidase deficiency
PubMed Articles | EuropePMC Articles | Clinical Trials

18-hydroxylase deficiency
PubMed Articles | EuropePMC Articles | Clinical Trials

18-oxidase deficiency
PubMed Articles | EuropePMC Articles | Clinical Trials

CMO deficiency
PubMed Articles | EuropePMC Articles | Clinical Trials

Visser-Cost syndrome
PubMed Articles | EuropePMC Articles | Clinical Trials

aldosterone deficiency
PubMed Articles | EuropePMC Articles | Clinical Trials

aldosterone deficiency due to deficiency of steroid 18-hydroxylase
PubMed Articles | EuropePMC Articles | Clinical Trials

aldosterone deficiency due to deficiency of steroid 18-oxidase
PubMed Articles | EuropePMC Articles | Clinical Trials

aldosterone synthase deficiency
PubMed Articles | EuropePMC Articles | Clinical Trials

congenital hypoaldosteronism
PubMed Articles | EuropePMC Articles | Clinical Trials

corticosterone 18-monooxygenase deficiency
PubMed Articles | EuropePMC Articles | Clinical Trials

corticosterone methyl oxidase deficiency
PubMed Articles | EuropePMC Articles | Clinical Trials

familial hyperreninemic hypoaldosteronism
PubMed Articles | EuropePMC Articles | Clinical Trials

steroid 18-hydroxylase deficiency
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steroid 18-oxidase deficiency
PubMed Articles | EuropePMC Articles | Clinical Trials

Costeff syndrome
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3-methylglutaconic aciduria type 3
PubMed Articles | EuropePMC Articles | Clinical Trials

3-methylglutaconic aciduria type III
PubMed Articles | EuropePMC Articles | Clinical Trials

Costeff optic atrophy syndrome
PubMed Articles | EuropePMC Articles | Clinical Trials

Iraqi Jewish optic atrophy plus
PubMed Articles | EuropePMC Articles | Clinical Trials

MGA, type III
PubMed Articles | EuropePMC Articles | Clinical Trials

MGA3
PubMed Articles | EuropePMC Articles | Clinical Trials

OPA3 defect
PubMed Articles | EuropePMC Articles | Clinical Trials

autosomal recessive OPA3
PubMed Articles | EuropePMC Articles | Clinical Trials

autosomal recessive optic atrophy 3
PubMed Articles | EuropePMC Articles | Clinical Trials

infantile optic atrophy with chorea and spastic paraplegia
PubMed Articles | EuropePMC Articles | Clinical Trials

optic atrophy plus syndrome
PubMed Articles | EuropePMC Articles | Clinical Trials

Costello syndrome
PubMed Articles | EuropePMC Articles | Clinical Trials

FCS syndrome
PubMed Articles | EuropePMC Articles | Clinical Trials

faciocutaneoskeletal syndrome
PubMed Articles | EuropePMC Articles | Clinical Trials

Cowden syndrome
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CD
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CS
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Cowden disease
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Cowden's disease
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Cowden's syndrome
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MHAM
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multiple hamartoma syndrome
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cranioectodermal dysplasia
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CED
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Sensenbrenner syndrome
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craniofacial-deafness-hand syndrome
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CDHS
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craniofacial microsomia
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CFM
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FAV
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Goldenhar syndrome
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Goldenhar-Gorlin syndrome
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HFM
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OAV complex
PubMed Articles | EuropePMC Articles | Clinical Trials

OAVS
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asymmetric hypoplasia of facial structures
PubMed Articles | EuropePMC Articles | Clinical Trials

auriculobranchiogenic dysplasia
PubMed Articles | EuropePMC Articles | Clinical Trials

facioauriculovertebral dysplasia
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first and second branchial arch syndrome
PubMed Articles | EuropePMC Articles | Clinical Trials

first and second pharyngeal arch syndromes
PubMed Articles | EuropePMC Articles | Clinical Trials

hemifacial microsomia
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lateral facial dysplasia
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oculoauriculovertebral spectrum
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oral-mandibular-auricular syndrome
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otomandibular dysostosis
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unilateral intrauterine facial necrosis
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unilateral mandibulofacial dysostosis
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craniometaphyseal dysplasia
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Autosomal dominant craniometaphyseal dysplasia
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Autosomal recessive craniometaphyseal dysplasia
PubMed Articles | EuropePMC Articles | Clinical Trials

CMD
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CMDD
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CMDJ
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CMDR
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Craniometaphyseal dysplasia, Jackson type
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cri-du-chat syndrome
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5p deletion syndrome
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5p- syndrome
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cat cry syndrome
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chromosome 5p- syndrome
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monosomy 5p
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Crigler-Najjar syndrome
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Crigler Najjar syndrome
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familial nonhemolytic unconjugated hyperbilirubinemia
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hereditary unconjugated hyperbilirubinemia
PubMed Articles | EuropePMC Articles | Clinical Trials

critical congenital heart disease
PubMed Articles | EuropePMC Articles | Clinical Trials

CCHD
PubMed Articles | EuropePMC Articles | Clinical Trials

critical congenital heart defects
PubMed Articles | EuropePMC Articles | Clinical Trials

Crohn disease
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Colitis, Granulomatous
PubMed Articles | EuropePMC Articles | Clinical Trials

Crohn's Disease
PubMed Articles | EuropePMC Articles | Clinical Trials

Crohn's enteritis
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Enteritis, Granulomatous
PubMed Articles | EuropePMC Articles | Clinical Trials

Enteritis, Regional
PubMed Articles | EuropePMC Articles | Clinical Trials

Ileitis
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Ileocolitis
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Crouzon syndrome
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Craniofacial Dysostosis
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Craniofacial dysarthrosis
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Craniofacial dysostosis syndrome
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Craniofacial dysostosis, type 1; CFD1
PubMed Articles | EuropePMC Articles | Clinical Trials

Crouzon craniofacial dysostosis
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Crouzon's Disease
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Crouzons Disease
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Crouzonodermoskeletal syndrome
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Crouzon syndrome with acanthosis nigricans
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Cushing disease
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hypercortisolism
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pituitary ACTH hypersecretion
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pituitary Cushing syndrome
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pituitary-dependant Cushing syndrome
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pituitary-dependant hypercortisolism
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pituitary-dependant hypercortisolism disorder
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cutis laxa
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dermatolysis
PubMed Articles | EuropePMC Articles | Clinical Trials

dermatomegaly
PubMed Articles | EuropePMC Articles | Clinical Trials

cyclic neutropenia
PubMed Articles | EuropePMC Articles | Clinical Trials

cyclic hematopoesis
PubMed Articles | EuropePMC Articles | Clinical Trials

cyclic leucopenia
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periodic neutropenia
PubMed Articles | EuropePMC Articles | Clinical Trials

cyclic vomiting syndrome
PubMed Articles | EuropePMC Articles | Clinical Trials

CVS
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abdominal migraine
PubMed Articles | EuropePMC Articles | Clinical Trials

cyclical vomiting
PubMed Articles | EuropePMC Articles | Clinical Trials

cyclical vomiting syndrome
PubMed Articles | EuropePMC Articles | Clinical Trials

periodic vomiting
PubMed Articles | EuropePMC Articles | Clinical Trials

cystic fibrosis
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CF
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cystic fibrosis of pancreas
PubMed Articles | EuropePMC Articles | Clinical Trials

fibrocystic disease of pancreas
PubMed Articles | EuropePMC Articles | Clinical Trials

mucoviscidosis
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cystinosis
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cystine storage disease
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cystinuria
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CSNU
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cytochrome c oxidase deficiency
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COX deficiency
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complex IV deficiency
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cytochrome-c oxidase deficiency
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mitochondrial complex IV deficiency
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cytochrome P450 oxidoreductase deficiency
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Antley-Bixler syndrome
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Antley-Bixler syndrome with disordered steroidogenesis
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Antley-Bixler syndrome-like phenotype with disordered steroidogenesis
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POR deficiency
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PORD
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combined partial deficiency of 17-hydroxylase and 21-hydroxylase
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congenital adrenal hyperplasia due to apparent combined p450c17 and p450c21 deficiency
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cytogenetically normal acute myeloid leukemia
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CN-AML
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NK-AML
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acute myelogenous leukemia with normal karyotype
PubMed Articles | EuropePMC Articles | Clinical Trials

normal karyotype acute myeloid leukemia
PubMed Articles | EuropePMC Articles | Clinical Trials

Czech dysplasia
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Czech dysplasia, metatarsal type
PubMed Articles | EuropePMC Articles | Clinical Trials

progressive pseudorheumatoid dysplasia with hypoplastic toes
PubMed Articles | EuropePMC Articles | Clinical Trials

spondyloarthropathy with short third and fourth toes
PubMed Articles | EuropePMC Articles | Clinical Trials

D-bifunctional protein deficiency
PubMed Articles | EuropePMC Articles | Clinical Trials

17-beta-hydroxysteroid dehydrogenase IV deficiency
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DBP deficiency
PubMed Articles | EuropePMC Articles | Clinical Trials

PBFE deficiency
PubMed Articles | EuropePMC Articles | Clinical Trials

Zellweger-like syndrome
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bifunctional peroxisomal enzyme deficiency
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peroxisomal bifunctional enzyme deficiency
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pseudo-Zellweger syndrome
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Dandy-Walker malformation
PubMed Articles | EuropePMC Articles | Clinical Trials

DWM
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DWS
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Dandy-Walker complex
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Dandy-Walker cyst
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Dandy-Walker deformity
PubMed Articles | EuropePMC Articles | Clinical Trials

Dandy-Walker syndrome
PubMed Articles | EuropePMC Articles | Clinical Trials

Luschka-Magendie foramina atresia
PubMed Articles | EuropePMC Articles | Clinical Trials

hydrocephalus, internal, Dandy-Walker type
PubMed Articles | EuropePMC Articles | Clinical Trials

hydrocephalus, noncommunicating, Dandy-Walker type
PubMed Articles | EuropePMC Articles | Clinical Trials

Danon disease
PubMed Articles | EuropePMC Articles | Clinical Trials

glycogen storage disease type 2B
PubMed Articles | EuropePMC Articles | Clinical Trials

glycogen storage disease type IIb
PubMed Articles | EuropePMC Articles | Clinical Trials

lysosomal glycogen storage disease with normal acid maltase
PubMed Articles | EuropePMC Articles | Clinical Trials

Darier disease
PubMed Articles | EuropePMC Articles | Clinical Trials

Darier's Disease
PubMed Articles | EuropePMC Articles | Clinical Trials

Darier-White disease
PubMed Articles | EuropePMC Articles | Clinical Trials

Keratosis Follicularis
PubMed Articles | EuropePMC Articles | Clinical Trials

deafness and myopia syndrome
PubMed Articles | EuropePMC Articles | Clinical Trials

DFNMYP
PubMed Articles | EuropePMC Articles | Clinical Trials

deafness and myopia
PubMed Articles | EuropePMC Articles | Clinical Trials

deafness, cochlear, plus
PubMed Articles | EuropePMC Articles | Clinical Trials

high myopia and sensorineural deafness
PubMed Articles | EuropePMC Articles | Clinical Trials

high myopia-sensorineural deafness syndrome
PubMed Articles | EuropePMC Articles | Clinical Trials

myopia and deafness
PubMed Articles | EuropePMC Articles | Clinical Trials

deafness-dystonia-optic neuronopathy syndrome
PubMed Articles | EuropePMC Articles | Clinical Trials

Deafness-dystonia syndrome
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Mohr-Tranebjærg syndrome
PubMed Articles | EuropePMC Articles | Clinical Trials

Dent disease
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Dent's disease
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Dents disease
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dentatorubral-pallidoluysian atrophy
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DRPLA
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Haw River syndrome
PubMed Articles | EuropePMC Articles | Clinical Trials

Myoclonic epilepsy with choreoathetosis
PubMed Articles | EuropePMC Articles | Clinical Trials

NOD
PubMed Articles | EuropePMC Articles | Clinical Trials

Naito-Oyanagi disease
PubMed Articles | EuropePMC Articles | Clinical Trials

dentinogenesis imperfecta
PubMed Articles | EuropePMC Articles | Clinical Trials

DGI
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Hereditary Opalescent Dentin
PubMed Articles | EuropePMC Articles | Clinical Trials

Denys-Drash syndrome
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DDS
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Drash syndrome
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Wilms tumor and pseudohermaphroditism
PubMed Articles | EuropePMC Articles | Clinical Trials

nephropathy, Wilms tumor, and genital anomalies
PubMed Articles | EuropePMC Articles | Clinical Trials

deoxyguanosine kinase deficiency
PubMed Articles | EuropePMC Articles | Clinical Trials

DGUOK-related mitochondrial DNA depletion syndrome
PubMed Articles | EuropePMC Articles | Clinical Trials

hepatocerebral mitochondrial DNA depletion syndrome
PubMed Articles | EuropePMC Articles | Clinical Trials

mitochondrial DNA depletion syndrome, hepatocerebral form
PubMed Articles | EuropePMC Articles | Clinical Trials

dermatofibrosarcoma protuberans
PubMed Articles | EuropePMC Articles | Clinical Trials

DFSP
PubMed Articles | EuropePMC Articles | Clinical Trials

Darier-Ferrand tumor
PubMed Articles | EuropePMC Articles | Clinical Trials

Darier-Hoffmann tumor
PubMed Articles | EuropePMC Articles | Clinical Trials

dermatofibrosarcoma
PubMed Articles | EuropePMC Articles | Clinical Trials

desmoid tumor
PubMed Articles | EuropePMC Articles | Clinical Trials

aggressive fibromatosis
PubMed Articles | EuropePMC Articles | Clinical Trials

deep fibromatosis
PubMed Articles | EuropePMC Articles | Clinical Trials

desmoid fibromatosis
PubMed Articles | EuropePMC Articles | Clinical Trials

familial infiltrative fibromatosis
PubMed Articles | EuropePMC Articles | Clinical Trials

hereditary desmoid disease
PubMed Articles | EuropePMC Articles | Clinical Trials

musculoaponeurotic fibromatosis
PubMed Articles | EuropePMC Articles | Clinical Trials

desmosterolosis
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deficiency of 3beta-hydroxysterol delta24-reductase
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Diamond-Blackfan anemia
PubMed Articles | EuropePMC Articles | Clinical Trials

Aase syndrome
PubMed Articles | EuropePMC Articles | Clinical Trials

Aase-Smith syndrome II
PubMed Articles | EuropePMC Articles | Clinical Trials

BDA
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BDS
PubMed Articles | EuropePMC Articles | Clinical Trials

Blackfan Diamond anemia
PubMed Articles | EuropePMC Articles | Clinical Trials

Blackfan-Diamond disease
PubMed Articles | EuropePMC Articles | Clinical Trials

Blackfan-Diamond syndrome
PubMed Articles | EuropePMC Articles | Clinical Trials

DBA
PubMed Articles | EuropePMC Articles | Clinical Trials

chronic congenital agenerative anemia
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congenital erythroid hypoplastic anemia
PubMed Articles | EuropePMC Articles | Clinical Trials

congenital hypoplastic anemia of Blackfan and Diamond
PubMed Articles | EuropePMC Articles | Clinical Trials

congenital pure red cell anemia
PubMed Articles | EuropePMC Articles | Clinical Trials

congenital pure red cell aplasia
PubMed Articles | EuropePMC Articles | Clinical Trials

erythrogenesis imperfecta
PubMed Articles | EuropePMC Articles | Clinical Trials

hypoplastic congenital anemia
PubMed Articles | EuropePMC Articles | Clinical Trials

inherited erythroblastopenia
PubMed Articles | EuropePMC Articles | Clinical Trials

pure hereditary red cell aplasia
PubMed Articles | EuropePMC Articles | Clinical Trials

diastrophic dysplasia
PubMed Articles | EuropePMC Articles | Clinical Trials

DTD
PubMed Articles | EuropePMC Articles | Clinical Trials

Diastrophic dwarfism
PubMed Articles | EuropePMC Articles | Clinical Trials

DICER1 syndrome
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DICER1-related pleuropulmonary blastoma cancer predisposition syndrome
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pleuropulmonary blastoma familial tumor and dysplasia syndrome
PubMed Articles | EuropePMC Articles | Clinical Trials

pleuropulmonary blastoma family tumor susceptibility syndrome
PubMed Articles | EuropePMC Articles | Clinical Trials

dihydrolipoamide dehydrogenase deficiency
PubMed Articles | EuropePMC Articles | Clinical Trials

DLD deficiency
PubMed Articles | EuropePMC Articles | Clinical Trials

E3 deficiency
PubMed Articles | EuropePMC Articles | Clinical Trials

dihydrolipoyl dehydrogenase deficiency
PubMed Articles | EuropePMC Articles | Clinical Trials

lactic acidosis due to LAD deficiency
PubMed Articles | EuropePMC Articles | Clinical Trials

lactic acidosis due to lipoamide dehydrogenase deficiency
PubMed Articles | EuropePMC Articles | Clinical Trials

lipoamide dehydrogenase deficiency
PubMed Articles | EuropePMC Articles | Clinical Trials

maple syrup urine disease, type III
PubMed Articles | EuropePMC Articles | Clinical Trials

dihydropyrimidinase deficiency
PubMed Articles | EuropePMC Articles | Clinical Trials

DPH deficiency
PubMed Articles | EuropePMC Articles | Clinical Trials

DPYS deficiency
PubMed Articles | EuropePMC Articles | Clinical Trials

dihydropyrimidinuria
PubMed Articles | EuropePMC Articles | Clinical Trials

dihydrouracil amidohydrolase deficiency
PubMed Articles | EuropePMC Articles | Clinical Trials

dihydropyrimidine dehydrogenase deficiency
PubMed Articles | EuropePMC Articles | Clinical Trials

DPD deficiency
PubMed Articles | EuropePMC Articles | Clinical Trials

dihydropyrimidinuria
PubMed Articles | EuropePMC Articles | Clinical Trials

familial pyrimidemia
PubMed Articles | EuropePMC Articles | Clinical Trials

hereditary thymine-uraciluria
PubMed Articles | EuropePMC Articles | Clinical Trials

dilated cardiomyopathy with ataxia syndrome
PubMed Articles | EuropePMC Articles | Clinical Trials

3-methylglutaconic aciduria type V
PubMed Articles | EuropePMC Articles | Clinical Trials

DCMA
PubMed Articles | EuropePMC Articles | Clinical Trials

DCMA syndrome
PubMed Articles | EuropePMC Articles | Clinical Trials

DNAJC19 defect
PubMed Articles | EuropePMC Articles | Clinical Trials

MGA type V
PubMed Articles | EuropePMC Articles | Clinical Trials

MGA5
PubMed Articles | EuropePMC Articles | Clinical Trials

MGCA5
PubMed Articles | EuropePMC Articles | Clinical Trials

distal arthrogryposis type 1
PubMed Articles | EuropePMC Articles | Clinical Trials

AMCD1
PubMed Articles | EuropePMC Articles | Clinical Trials

DA1
PubMed Articles | EuropePMC Articles | Clinical Trials

arthrogryposis, distal, type 1
PubMed Articles | EuropePMC Articles | Clinical Trials

distal hereditary motor neuropathy, type II
PubMed Articles | EuropePMC Articles | Clinical Trials

distal hereditary motor neuronopathy, type II
PubMed Articles | EuropePMC Articles | Clinical Trials

distal hereditary motor neuropathy, type V
PubMed Articles | EuropePMC Articles | Clinical Trials

DHMN-V
PubMed Articles | EuropePMC Articles | Clinical Trials

DSMAV
PubMed Articles | EuropePMC Articles | Clinical Trials

HMN V
PubMed Articles | EuropePMC Articles | Clinical Trials

distal hereditary motor neuronopathy type 5
PubMed Articles | EuropePMC Articles | Clinical Trials

distal hereditary motor neuronopathy, type V
PubMed Articles | EuropePMC Articles | Clinical Trials

distal spinal muscular atrophy, type V
PubMed Articles | EuropePMC Articles | Clinical Trials

spinal muscular atrophy, distal type V
PubMed Articles | EuropePMC Articles | Clinical Trials

spinal muscular atrophy, distal, with upper limb predominance
PubMed Articles | EuropePMC Articles | Clinical Trials

distal myopathy 2
PubMed Articles | EuropePMC Articles | Clinical Trials

MPD2
PubMed Articles | EuropePMC Articles | Clinical Trials

VCPDM
PubMed Articles | EuropePMC Articles | Clinical Trials

distal myopathy with vocal cord and pharyngeal signs
PubMed Articles | EuropePMC Articles | Clinical Trials

distal myopathy with vocal cord weakness
PubMed Articles | EuropePMC Articles | Clinical Trials

matrin 3 distal myopathy
PubMed Articles | EuropePMC Articles | Clinical Trials

myopathia distalis type 2
PubMed Articles | EuropePMC Articles | Clinical Trials

vocal cord and pharyngeal weakness with distal myopathy
PubMed Articles | EuropePMC Articles | Clinical Trials

DMD-associated dilated cardiomyopathy
PubMed Articles | EuropePMC Articles | Clinical Trials

CMD3B
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DMD-related dilated cardiomyopathy
PubMed Articles | EuropePMC Articles | Clinical Trials

X-linked dilated cardiomyopathy
PubMed Articles | EuropePMC Articles | Clinical Trials

XLCM
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XLDC
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dilated cardiomyopathy 3B
PubMed Articles | EuropePMC Articles | Clinical Trials

Donnai-Barrow syndrome
PubMed Articles | EuropePMC Articles | Clinical Trials

DBS
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DBS/FOAR syndrome
PubMed Articles | EuropePMC Articles | Clinical Trials

Diaphragmatic hernia-exomphalos-hypertelorism syndrome
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FOAR syndrome
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diaphragmatic hernia-exomphalos-corpus callosum agenesis
PubMed Articles | EuropePMC Articles | Clinical Trials

faciooculoacousticorenal syndrome
PubMed Articles | EuropePMC Articles | Clinical Trials

Donohue syndrome
PubMed Articles | EuropePMC Articles | Clinical Trials

Donohue's syndrome
PubMed Articles | EuropePMC Articles | Clinical Trials

leprechaunism
PubMed Articles | EuropePMC Articles | Clinical Trials

leprechaunism syndrome
PubMed Articles | EuropePMC Articles | Clinical Trials

DOORS syndrome
PubMed Articles | EuropePMC Articles | Clinical Trials

DOOR syndrome
PubMed Articles | EuropePMC Articles | Clinical Trials

DRC syndrome
PubMed Articles | EuropePMC Articles | Clinical Trials

Eronen syndrome
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autosomal recessive deafness-onychodystrophy syndrome
PubMed Articles | EuropePMC Articles | Clinical Trials

deafness, onychodystrophy, osteodystrophy, and mental retardation syndrome
PubMed Articles | EuropePMC Articles | Clinical Trials

deafness-oncychodystrophy-osteodystrophy-intellectual disability syndrome
PubMed Articles | EuropePMC Articles | Clinical Trials

deafness-onychoosteodystrophy-intellectual disability syndrome
PubMed Articles | EuropePMC Articles | Clinical Trials

digitorenocerebral syndrome
PubMed Articles | EuropePMC Articles | Clinical Trials

dopa-responsive dystonia
PubMed Articles | EuropePMC Articles | Clinical Trials

DRD
PubMed Articles | EuropePMC Articles | Clinical Trials

dystonia 5, dopa-responsive type
PubMed Articles | EuropePMC Articles | Clinical Trials

hereditary progressive dystonia with marked diurnal fluctuation
PubMed Articles | EuropePMC Articles | Clinical Trials

dopamine beta-hydroxylase deficiency
PubMed Articles | EuropePMC Articles | Clinical Trials

dopamine β-hydroxylase
PubMed Articles | EuropePMC Articles | Clinical Trials

noradrenaline deficiency
PubMed Articles | EuropePMC Articles | Clinical Trials

norepinephrine deficiency
PubMed Articles | EuropePMC Articles | Clinical Trials

dopamine transporter deficiency syndrome
PubMed Articles | EuropePMC Articles | Clinical Trials

DTDS
PubMed Articles | EuropePMC Articles | Clinical Trials

PKDYS
PubMed Articles | EuropePMC Articles | Clinical Trials

infantile parkinsonism-dystonia
PubMed Articles | EuropePMC Articles | Clinical Trials

parkinsonism-dystonia, infantile
PubMed Articles | EuropePMC Articles | Clinical Trials

Dowling-Degos disease
PubMed Articles | EuropePMC Articles | Clinical Trials

DDD
PubMed Articles | EuropePMC Articles | Clinical Trials

Dowling-Degos-Kitamura disease
PubMed Articles | EuropePMC Articles | Clinical Trials

dark dot disease
PubMed Articles | EuropePMC Articles | Clinical Trials

reticular pigment anomaly of flexures
PubMed Articles | EuropePMC Articles | Clinical Trials

reticulate acropigmentation of Kitamura
PubMed Articles | EuropePMC Articles | Clinical Trials

Down syndrome
PubMed Articles | EuropePMC Articles | Clinical Trials

47,XX,+21
PubMed Articles | EuropePMC Articles | Clinical Trials

47,XY,+21
PubMed Articles | EuropePMC Articles | Clinical Trials

Down's syndrome
PubMed Articles | EuropePMC Articles | Clinical Trials

trisomy 21
PubMed Articles | EuropePMC Articles | Clinical Trials

trisomy G
PubMed Articles | EuropePMC Articles | Clinical Trials

Duane-radial ray syndrome
PubMed Articles | EuropePMC Articles | Clinical Trials

DRRS
PubMed Articles | EuropePMC Articles | Clinical Trials

Okihiro syndrome
PubMed Articles | EuropePMC Articles | Clinical Trials

Dubin-Johnson syndrome
PubMed Articles | EuropePMC Articles | Clinical Trials

DJS
PubMed Articles | EuropePMC Articles | Clinical Trials

Jaundice, Chronic Idiopathic
PubMed Articles | EuropePMC Articles | Clinical Trials

hyperbilirubinemia II
PubMed Articles | EuropePMC Articles | Clinical Trials

Duchenne and Becker muscular dystrophy
PubMed Articles | EuropePMC Articles | Clinical Trials

DBMD
PubMed Articles | EuropePMC Articles | Clinical Trials

Duchenne/Becker muscular dystrophy
PubMed Articles | EuropePMC Articles | Clinical Trials

muscular dystrophy, Duchenne and Becker types
PubMed Articles | EuropePMC Articles | Clinical Trials

muscular dystrophy, pseudohypertrophic
PubMed Articles | EuropePMC Articles | Clinical Trials

dyserythropoietic anemia and thrombocytopenia
PubMed Articles | EuropePMC Articles | Clinical Trials

GATA-1-related thrombocytopenia with dyserythropoiesis
PubMed Articles | EuropePMC Articles | Clinical Trials

GATA1-related X-linked cytopenia
PubMed Articles | EuropePMC Articles | Clinical Trials

GATA1-related cytopenia
PubMed Articles | EuropePMC Articles | Clinical Trials

X-linked macrothrombocytopenia
PubMed Articles | EuropePMC Articles | Clinical Trials

dyserythropoietic anemia with thrombocytopenia
PubMed Articles | EuropePMC Articles | Clinical Trials

dyskeratosis congenita
PubMed Articles | EuropePMC Articles | Clinical Trials

Zinsser-Cole-Engman syndrome
PubMed Articles | EuropePMC Articles | Clinical Trials

dystonia 6
PubMed Articles | EuropePMC Articles | Clinical Trials

DYT6
PubMed Articles | EuropePMC Articles | Clinical Trials

DYT6 dystonia
PubMed Articles | EuropePMC Articles | Clinical Trials

THAP1 dystonia
PubMed Articles | EuropePMC Articles | Clinical Trials

idiopathic torsion dystonia of mixed type
PubMed Articles | EuropePMC Articles | Clinical Trials

primary dystonia, DYT6 type
PubMed Articles | EuropePMC Articles | Clinical Trials

torsion dystonia 6
PubMed Articles | EuropePMC Articles | Clinical Trials

dystrophic epidermolysis bullosa
PubMed Articles | EuropePMC Articles | Clinical Trials

Epidermolysis Bullosa Dystrophica
PubMed Articles | EuropePMC Articles | Clinical Trials

Epidermolysis Bullosa, Dystrophic
PubMed Articles | EuropePMC Articles | Clinical Trials

early-onset glaucoma
PubMed Articles | EuropePMC Articles | Clinical Trials

hereditary glaucoma
PubMed Articles | EuropePMC Articles | Clinical Trials

early-onset primary dystonia
PubMed Articles | EuropePMC Articles | Clinical Trials

DYT1
PubMed Articles | EuropePMC Articles | Clinical Trials

Dystonia musculorum deformans 1
PubMed Articles | EuropePMC Articles | Clinical Trials

Early-onset generalized torsion dystonia
PubMed Articles | EuropePMC Articles | Clinical Trials

Oppenheim dystonia
PubMed Articles | EuropePMC Articles | Clinical Trials

Oppenheim's dystonia
PubMed Articles | EuropePMC Articles | Clinical Trials

Primary torsion dystonia
PubMed Articles | EuropePMC Articles | Clinical Trials

Ehlers-Danlos syndrome
PubMed Articles | EuropePMC Articles | Clinical Trials

EDS
PubMed Articles | EuropePMC Articles | Clinical Trials

Ehlers Danlos disease
PubMed Articles | EuropePMC Articles | Clinical Trials

Ellis-van Creveld syndrome
PubMed Articles | EuropePMC Articles | Clinical Trials

Ellis-van Creveld dysplasia
PubMed Articles | EuropePMC Articles | Clinical Trials

chondroectodermal dysplasia
PubMed Articles | EuropePMC Articles | Clinical Trials

Emanuel syndrome
PubMed Articles | EuropePMC Articles | Clinical Trials

Der(22) syndrome due to 3:1 meiotic disjunction events
PubMed Articles | EuropePMC Articles | Clinical Trials

supernumerary der(22) syndrome
PubMed Articles | EuropePMC Articles | Clinical Trials

supernumerary der(22)t(11;22) syndrome
PubMed Articles | EuropePMC Articles | Clinical Trials

supernumerary derivative 22 chromosome syndrome
PubMed Articles | EuropePMC Articles | Clinical Trials

Emery-Dreifuss muscular dystrophy
PubMed Articles | EuropePMC Articles | Clinical Trials

Benign scapuloperoneal muscular dystrophy with early contractures
PubMed Articles | EuropePMC Articles | Clinical Trials

EDMD
PubMed Articles | EuropePMC Articles | Clinical Trials

Emery-Dreifuss Syndrome
PubMed Articles | EuropePMC Articles | Clinical Trials

Muscular Dystrophy, Emery-Dreifuss
PubMed Articles | EuropePMC Articles | Clinical Trials

enlarged parietal foramina
PubMed Articles | EuropePMC Articles | Clinical Trials

Catlin marks
PubMed Articles | EuropePMC Articles | Clinical Trials

FPP
PubMed Articles | EuropePMC Articles | Clinical Trials

PFM
PubMed Articles | EuropePMC Articles | Clinical Trials

cranium bifidum
PubMed Articles | EuropePMC Articles | Clinical Trials

foramina parietalia permagna
PubMed Articles | EuropePMC Articles | Clinical Trials

parietal foramina
PubMed Articles | EuropePMC Articles | Clinical Trials

eosinophil peroxidase deficiency
PubMed Articles | EuropePMC Articles | Clinical Trials

EPXD
PubMed Articles | EuropePMC Articles | Clinical Trials

Presentey anomaly
PubMed Articles | EuropePMC Articles | Clinical Trials

peroxidase and phospholipid deficiency in eosinophils
PubMed Articles | EuropePMC Articles | Clinical Trials

epidermal nevus
PubMed Articles | EuropePMC Articles | Clinical Trials

epidermal naevus
PubMed Articles | EuropePMC Articles | Clinical Trials

epidermolysis bullosa simplex
PubMed Articles | EuropePMC Articles | Clinical Trials

EBS
PubMed Articles | EuropePMC Articles | Clinical Trials

epidermolysis bullosa with pyloric atresia
PubMed Articles | EuropePMC Articles | Clinical Trials

Carmi syndrome
PubMed Articles | EuropePMC Articles | Clinical Trials

EB-PA
PubMed Articles | EuropePMC Articles | Clinical Trials

PA-JEB
PubMed Articles | EuropePMC Articles | Clinical Trials

junctional epidermolysis bullosa with pyloric atresia
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epidermolytic hyperkeratosis
PubMed Articles | EuropePMC Articles | Clinical Trials

BCIE
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BIE
PubMed Articles | EuropePMC Articles | Clinical Trials

EHK
PubMed Articles | EuropePMC Articles | Clinical Trials

bullous congenital ichthyosiform erythroderma
PubMed Articles | EuropePMC Articles | Clinical Trials

bullous erythroderma ichthyosiforme
PubMed Articles | EuropePMC Articles | Clinical Trials

bullous erythroderma ichthyosiformis congenita of Brocq
PubMed Articles | EuropePMC Articles | Clinical Trials

bullous ichthyosiform erythroderma
PubMed Articles | EuropePMC Articles | Clinical Trials

epidermolytic ichthyosis
PubMed Articles | EuropePMC Articles | Clinical Trials

hyperkeratosis, epidermolytic
PubMed Articles | EuropePMC Articles | Clinical Trials

episodic ataxia
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EA
PubMed Articles | EuropePMC Articles | Clinical Trials

Erdheim-Chester disease
PubMed Articles | EuropePMC Articles | Clinical Trials

lipid granulomatosis
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polyostotic sclerosing histiocytosis
PubMed Articles | EuropePMC Articles | Clinical Trials

erythrokeratodermia variabilis et progressiva
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EKV
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EKV-P
PubMed Articles | EuropePMC Articles | Clinical Trials

EKVP
PubMed Articles | EuropePMC Articles | Clinical Trials

erythrokeratodermia variabilis
PubMed Articles | EuropePMC Articles | Clinical Trials

erythrokeratodermia variabilis of Mendes da Costa
PubMed Articles | EuropePMC Articles | Clinical Trials

erythrokeratodermia, progressive symmetric
PubMed Articles | EuropePMC Articles | Clinical Trials

progressive symmetrical erythrokeratoderma of Gottron
PubMed Articles | EuropePMC Articles | Clinical Trials

erythromelalgia
PubMed Articles | EuropePMC Articles | Clinical Trials

erythermalgia
PubMed Articles | EuropePMC Articles | Clinical Trials

familial erythromelalgia
PubMed Articles | EuropePMC Articles | Clinical Trials

primary erythromelalgia
PubMed Articles | EuropePMC Articles | Clinical Trials

esophageal atresia/tracheoesophageal fistula
PubMed Articles | EuropePMC Articles | Clinical Trials

EA/TEF
PubMed Articles | EuropePMC Articles | Clinical Trials

essential pentosuria
PubMed Articles | EuropePMC Articles | Clinical Trials

L-xylulose reductase deficiency
PubMed Articles | EuropePMC Articles | Clinical Trials

L-xylulosuria
PubMed Articles | EuropePMC Articles | Clinical Trials

essential benign pentosuria
PubMed Articles | EuropePMC Articles | Clinical Trials

pentosuria
PubMed Articles | EuropePMC Articles | Clinical Trials

xylitol dehydrogenase deficiency
PubMed Articles | EuropePMC Articles | Clinical Trials

essential thrombocythemia
PubMed Articles | EuropePMC Articles | Clinical Trials

essential thrombocytosis
PubMed Articles | EuropePMC Articles | Clinical Trials

primary thrombocythemia
PubMed Articles | EuropePMC Articles | Clinical Trials

primary thrombocytosis
PubMed Articles | EuropePMC Articles | Clinical Trials

essential tremor
PubMed Articles | EuropePMC Articles | Clinical Trials

benign essential tremor
PubMed Articles | EuropePMC Articles | Clinical Trials

familial tremor
PubMed Articles | EuropePMC Articles | Clinical Trials

hereditary essential tremor
PubMed Articles | EuropePMC Articles | Clinical Trials

ethylmalonic encephalopathy
PubMed Articles | EuropePMC Articles | Clinical Trials

EME
PubMed Articles | EuropePMC Articles | Clinical Trials

EPEMA syndrome
PubMed Articles | EuropePMC Articles | Clinical Trials

Encephalopathy, petechiae, and ethylmalonic aciduria
PubMed Articles | EuropePMC Articles | Clinical Trials

Ewing sarcoma
PubMed Articles | EuropePMC Articles | Clinical Trials

Ewing family of tumors
PubMed Articles | EuropePMC Articles | Clinical Trials

Ewing tumor
PubMed Articles | EuropePMC Articles | Clinical Trials

Ewing's sarcoma
PubMed Articles | EuropePMC Articles | Clinical Trials

Ewing's tumor
PubMed Articles | EuropePMC Articles | Clinical Trials

tumor of the Ewing family
PubMed Articles | EuropePMC Articles | Clinical Trials

Fabry disease
PubMed Articles | EuropePMC Articles | Clinical Trials

Anderson-Fabry disease
PubMed Articles | EuropePMC Articles | Clinical Trials

Fabry's disease
PubMed Articles | EuropePMC Articles | Clinical Trials

GLA deficiency
PubMed Articles | EuropePMC Articles | Clinical Trials

alpha-galactosidase A deficiency
PubMed Articles | EuropePMC Articles | Clinical Trials

angiokeratoma corporis diffusum
PubMed Articles | EuropePMC Articles | Clinical Trials

angiokeratoma diffuse
PubMed Articles | EuropePMC Articles | Clinical Trials

ceramide trihexosidase deficiency
PubMed Articles | EuropePMC Articles | Clinical Trials

hereditary dystopic lipidosis
PubMed Articles | EuropePMC Articles | Clinical Trials

facioscapulohumeral muscular dystrophy
PubMed Articles | EuropePMC Articles | Clinical Trials

FSH muscular dystrophy
PubMed Articles | EuropePMC Articles | Clinical Trials

FSHD
PubMed Articles | EuropePMC Articles | Clinical Trials

facio-scapulo-humeral dystrophy
PubMed Articles | EuropePMC Articles | Clinical Trials

facioscapulohumeral atrophy
PubMed Articles | EuropePMC Articles | Clinical Trials

facioscapulohumeral type progressive muscular dystrophy
PubMed Articles | EuropePMC Articles | Clinical Trials

facioscapuloperoneal muscular dystrophy
PubMed Articles | EuropePMC Articles | Clinical Trials

muscular dystrophy, facioscapulohumeral
PubMed Articles | EuropePMC Articles | Clinical Trials

factor V deficiency
PubMed Articles | EuropePMC Articles | Clinical Trials

Owren disease
PubMed Articles | EuropePMC Articles | Clinical Trials

Owren's disease
PubMed Articles | EuropePMC Articles | Clinical Trials

labile factor deficiency
PubMed Articles | EuropePMC Articles | Clinical Trials

parahemophilia
PubMed Articles | EuropePMC Articles | Clinical Trials

proaccelerin deficiency
PubMed Articles | EuropePMC Articles | Clinical Trials

factor V Leiden thrombophilia
PubMed Articles | EuropePMC Articles | Clinical Trials

APC resistance, Leiden type
PubMed Articles | EuropePMC Articles | Clinical Trials

Hereditary resistance to activated protein C
PubMed Articles | EuropePMC Articles | Clinical Trials

factor X deficiency
PubMed Articles | EuropePMC Articles | Clinical Trials

F10 deficiency
PubMed Articles | EuropePMC Articles | Clinical Trials

Stuart-Prower factor deficiency
PubMed Articles | EuropePMC Articles | Clinical Trials

congenital Stuart factor deficiency
PubMed Articles | EuropePMC Articles | Clinical Trials

factor XIII deficiency
PubMed Articles | EuropePMC Articles | Clinical Trials

deficiency of factor XIII
PubMed Articles | EuropePMC Articles | Clinical Trials

deficiency, Laki-Lorand factor
PubMed Articles | EuropePMC Articles | Clinical Trials

fibrin stabilizing factor deficiency
PubMed Articles | EuropePMC Articles | Clinical Trials

familial acute myeloid leukemia with mutated CEBPA
PubMed Articles | EuropePMC Articles | Clinical Trials

CEBPA-dependent familial acute myeloid leukemia
PubMed Articles | EuropePMC Articles | Clinical Trials

familial acute myeloid leukaemia
PubMed Articles | EuropePMC Articles | Clinical Trials

familial adenomatous polyposis
PubMed Articles | EuropePMC Articles | Clinical Trials

FAP
PubMed Articles | EuropePMC Articles | Clinical Trials

MYH-associated polyposis
PubMed Articles | EuropePMC Articles | Clinical Trials

adenomatous familial polyposis
PubMed Articles | EuropePMC Articles | Clinical Trials

adenomatous familial polyposis syndrome
PubMed Articles | EuropePMC Articles | Clinical Trials

adenomatous polyposis coli
PubMed Articles | EuropePMC Articles | Clinical Trials

familial multiple polyposis syndrome
PubMed Articles | EuropePMC Articles | Clinical Trials

familial atrial fibrillation
PubMed Articles | EuropePMC Articles | Clinical Trials

Auricular Fibrillation
PubMed Articles | EuropePMC Articles | Clinical Trials

familial cold autoinflammatory syndrome
PubMed Articles | EuropePMC Articles | Clinical Trials

FCAS
PubMed Articles | EuropePMC Articles | Clinical Trials

FCU
PubMed Articles | EuropePMC Articles | Clinical Trials

cold hypersensitivity
PubMed Articles | EuropePMC Articles | Clinical Trials

familial cold urticaria
PubMed Articles | EuropePMC Articles | Clinical Trials

familial cold-induced autoinflammatory syndrome
PubMed Articles | EuropePMC Articles | Clinical Trials

familial cylindromatosis
PubMed Articles | EuropePMC Articles | Clinical Trials

Ancell-Spiegler cylindromas
PubMed Articles | EuropePMC Articles | Clinical Trials

cylindromatosis, familial
PubMed Articles | EuropePMC Articles | Clinical Trials

dermal eccrine cylindroma
PubMed Articles | EuropePMC Articles | Clinical Trials

turban tumor syndrome
PubMed Articles | EuropePMC Articles | Clinical Trials

familial dilated cardiomyopathy
PubMed Articles | EuropePMC Articles | Clinical Trials

FDC
PubMed Articles | EuropePMC Articles | Clinical Trials

congestive cardiomyopathy
PubMed Articles | EuropePMC Articles | Clinical Trials

familial idiopathic cardiomyopathy
PubMed Articles | EuropePMC Articles | Clinical Trials

primary familial dilated cardiomyopathy
PubMed Articles | EuropePMC Articles | Clinical Trials

familial dysautonomia
PubMed Articles | EuropePMC Articles | Clinical Trials

FD
PubMed Articles | EuropePMC Articles | Clinical Trials

HSAN Type III
PubMed Articles | EuropePMC Articles | Clinical Trials

HSAN3
PubMed Articles | EuropePMC Articles | Clinical Trials

HSN-III
PubMed Articles | EuropePMC Articles | Clinical Trials

Riley-Day Syndrome
PubMed Articles | EuropePMC Articles | Clinical Trials

familial encephalopathy with neuroserpin inclusion bodies
PubMed Articles | EuropePMC Articles | Clinical Trials

FENIB
PubMed Articles | EuropePMC Articles | Clinical Trials

familial dementia with neuroserpin inclusion bodies
PubMed Articles | EuropePMC Articles | Clinical Trials

familial erythrocytosis
PubMed Articles | EuropePMC Articles | Clinical Trials

benign familial polycythemia
PubMed Articles | EuropePMC Articles | Clinical Trials

congenital erythrocytosis
PubMed Articles | EuropePMC Articles | Clinical Trials

familial polycythemia
PubMed Articles | EuropePMC Articles | Clinical Trials

hereditary erythrocytosis
PubMed Articles | EuropePMC Articles | Clinical Trials

primary familial polycythemia
PubMed Articles | EuropePMC Articles | Clinical Trials

familial exudative vitreoretinopathy
PubMed Articles | EuropePMC Articles | Clinical Trials

FEVR
PubMed Articles | EuropePMC Articles | Clinical Trials

familial glucocorticoid deficiency
PubMed Articles | EuropePMC Articles | Clinical Trials

ACTH resistance
PubMed Articles | EuropePMC Articles | Clinical Trials

adrenal unresponsiveness to ACTH
PubMed Articles | EuropePMC Articles | Clinical Trials

glucocorticoid deficiency
PubMed Articles | EuropePMC Articles | Clinical Trials

hereditary unresponsiveness to adrenocorticotropic hormone
PubMed Articles | EuropePMC Articles | Clinical Trials

isolated glucocorticoid deficiency
PubMed Articles | EuropePMC Articles | Clinical Trials

familial HDL deficiency
PubMed Articles | EuropePMC Articles | Clinical Trials

FHA
PubMed Articles | EuropePMC Articles | Clinical Trials

HDL deficiency, type 2
PubMed Articles | EuropePMC Articles | Clinical Trials

HDLD
PubMed Articles | EuropePMC Articles | Clinical Trials

familial hypoalphalipoproteinemia
PubMed Articles | EuropePMC Articles | Clinical Trials

low serum HDL cholesterol
PubMed Articles | EuropePMC Articles | Clinical Trials

primary hypoalphalipoproteinemia
PubMed Articles | EuropePMC Articles | Clinical Trials

familial hemiplegic migraine
PubMed Articles | EuropePMC Articles | Clinical Trials

hemiplegic migraine, familial
PubMed Articles | EuropePMC Articles | Clinical Trials

hemiplegic-ophthalmoplegic migraine
PubMed Articles | EuropePMC Articles | Clinical Trials

familial hemophagocytic lymphohistiocytosis
PubMed Articles | EuropePMC Articles | Clinical Trials

FEL
PubMed Articles | EuropePMC Articles | Clinical Trials

FHL
PubMed Articles | EuropePMC Articles | Clinical Trials

FHLH
PubMed Articles | EuropePMC Articles | Clinical Trials

HPLH
PubMed Articles | EuropePMC Articles | Clinical Trials

familial erythrophagocytic lymphohistiocytosis
PubMed Articles | EuropePMC Articles | Clinical Trials

familial hemophagocytic histiocytosis
PubMed Articles | EuropePMC Articles | Clinical Trials

familial hemophagocytic lymphocytosis
PubMed Articles | EuropePMC Articles | Clinical Trials

familial hemophagocytic reticulosis
PubMed Articles | EuropePMC Articles | Clinical Trials

hemophagocytic syndrome
PubMed Articles | EuropePMC Articles | Clinical Trials

primary hemophagocytic hymphohistiocytosis
PubMed Articles | EuropePMC Articles | Clinical Trials

familial hyperaldosteronism
PubMed Articles | EuropePMC Articles | Clinical Trials

FH
PubMed Articles | EuropePMC Articles | Clinical Trials

familial primary aldosteronism
PubMed Articles | EuropePMC Articles | Clinical Trials

hereditary aldosteronism
PubMed Articles | EuropePMC Articles | Clinical Trials

hyperaldosteronism, familial
PubMed Articles | EuropePMC Articles | Clinical Trials

familial hypertrophic cardiomyopathy
PubMed Articles | EuropePMC Articles | Clinical Trials

HCM
PubMed Articles | EuropePMC Articles | Clinical Trials

familial asymmetric septal hypertrophy
PubMed Articles | EuropePMC Articles | Clinical Trials

hereditary ventricular hypertrophy
PubMed Articles | EuropePMC Articles | Clinical Trials

heritable hypertrophic cardiomyopathy
PubMed Articles | EuropePMC Articles | Clinical Trials

idiopathic hypertrophic subaortic stenosis
PubMed Articles | EuropePMC Articles | Clinical Trials

familial hypobetalipoproteinemia
PubMed Articles | EuropePMC Articles | Clinical Trials

FHBL
PubMed Articles | EuropePMC Articles | Clinical Trials

hypobetalipoproteinemia
PubMed Articles | EuropePMC Articles | Clinical Trials

familial idiopathic basal ganglia calcification
PubMed Articles | EuropePMC Articles | Clinical Trials

FIBGC
PubMed Articles | EuropePMC Articles | Clinical Trials

bilateral striopallidodentate calcinosis
PubMed Articles | EuropePMC Articles | Clinical Trials

cerebrovascular ferrocalcinosis
PubMed Articles | EuropePMC Articles | Clinical Trials

striopallidodentate calcinosis
PubMed Articles | EuropePMC Articles | Clinical Trials

familial isolated hyperparathyroidism
PubMed Articles | EuropePMC Articles | Clinical Trials

FIHP
PubMed Articles | EuropePMC Articles | Clinical Trials

hyperparathyroidism 1
PubMed Articles | EuropePMC Articles | Clinical Trials

familial isolated pituitary adenoma
PubMed Articles | EuropePMC Articles | Clinical Trials

FIPA
PubMed Articles | EuropePMC Articles | Clinical Trials

familial lipoprotein lipase deficiency
PubMed Articles | EuropePMC Articles | Clinical Trials

Burger-Grutz syndrome
PubMed Articles | EuropePMC Articles | Clinical Trials

LIPD deficiency
PubMed Articles | EuropePMC Articles | Clinical Trials

endogenous hypertriglyceridaemia
PubMed Articles | EuropePMC Articles | Clinical Trials

familial LPL deficiency
PubMed Articles | EuropePMC Articles | Clinical Trials

familial fat-induced hypertriglyceridemia
PubMed Articles | EuropePMC Articles | Clinical Trials

familial hyperchylomicronemia
PubMed Articles | EuropePMC Articles | Clinical Trials

hyperlipoproteinemia type I
PubMed Articles | EuropePMC Articles | Clinical Trials

hyperlipoproteinemia type Ia
PubMed Articles | EuropePMC Articles | Clinical Trials

lipase D deficiency
PubMed Articles | EuropePMC Articles | Clinical Trials

lipoprotein lipase deficiency, familial
PubMed Articles | EuropePMC Articles | Clinical Trials

familial male-limited precocious puberty
PubMed Articles | EuropePMC Articles | Clinical Trials

GIPP
PubMed Articles | EuropePMC Articles | Clinical Trials

familial gonadotrophin-independent sexual precocity
PubMed Articles | EuropePMC Articles | Clinical Trials

gonadotrophin-independent precocious puberty
PubMed Articles | EuropePMC Articles | Clinical Trials

precocious pseudopuberty
PubMed Articles | EuropePMC Articles | Clinical Trials

pubertas praecox
PubMed Articles | EuropePMC Articles | Clinical Trials

testotoxicosis
PubMed Articles | EuropePMC Articles | Clinical Trials

familial Mediterranean fever
PubMed Articles | EuropePMC Articles | Clinical Trials

FMF
PubMed Articles | EuropePMC Articles | Clinical Trials

MEF
PubMed Articles | EuropePMC Articles | Clinical Trials

Reimann periodic disease
PubMed Articles | EuropePMC Articles | Clinical Trials

Siegal-Cattan-Mamou disease
PubMed Articles | EuropePMC Articles | Clinical Trials

Wolff periodic disease
PubMed Articles | EuropePMC Articles | Clinical Trials

benign paroxysmal peritonitis
PubMed Articles | EuropePMC Articles | Clinical Trials

familial paroxysmal polyserositis
PubMed Articles | EuropePMC Articles | Clinical Trials

recurrent polyserositis
PubMed Articles | EuropePMC Articles | Clinical Trials

familial osteochondritis dissecans
PubMed Articles | EuropePMC Articles | Clinical Trials

OCD
PubMed Articles | EuropePMC Articles | Clinical Trials

OD
PubMed Articles | EuropePMC Articles | Clinical Trials

fOCD
PubMed Articles | EuropePMC Articles | Clinical Trials

osteochondritis dissecans, short stature, and early-onset osteoarthritis
PubMed Articles | EuropePMC Articles | Clinical Trials

familial paroxysmal kinesigenic dyskinesia
PubMed Articles | EuropePMC Articles | Clinical Trials

dystonia 10
PubMed Articles | EuropePMC Articles | Clinical Trials

episodic kinesigenic dyskinesia
PubMed Articles | EuropePMC Articles | Clinical Trials

familial paroxysmal dystonia
PubMed Articles | EuropePMC Articles | Clinical Trials

paroxysmal kinesigenic choreoathetosis
PubMed Articles | EuropePMC Articles | Clinical Trials

paroxysmal kinesigenic dyskinesia
PubMed Articles | EuropePMC Articles | Clinical Trials

familial paroxysmal nonkinesigenic dyskinesia
PubMed Articles | EuropePMC Articles | Clinical Trials

Mount-Reback syndrome
PubMed Articles | EuropePMC Articles | Clinical Trials

PDC
PubMed Articles | EuropePMC Articles | Clinical Trials

PNKD
PubMed Articles | EuropePMC Articles | Clinical Trials

familial paroxysmal choreoathetosis
PubMed Articles | EuropePMC Articles | Clinical Trials

nonkinesigenic choreoathetosis
PubMed Articles | EuropePMC Articles | Clinical Trials

paroxysmal dystonic choreoathetosis
PubMed Articles | EuropePMC Articles | Clinical Trials

paroxysmal nonkinesigenic dyskinesia
PubMed Articles | EuropePMC Articles | Clinical Trials

familial pityriasis rubra pilaris
PubMed Articles | EuropePMC Articles | Clinical Trials

familial PRP
PubMed Articles | EuropePMC Articles | Clinical Trials

familial porencephaly
PubMed Articles | EuropePMC Articles | Clinical Trials

autosomal dominant porencephaly type 1
PubMed Articles | EuropePMC Articles | Clinical Trials

infantile hemiplegia with porencephaly
PubMed Articles | EuropePMC Articles | Clinical Trials

porencephaly type 1
PubMed Articles | EuropePMC Articles | Clinical Trials

familial restrictive cardiomyopathy
PubMed Articles | EuropePMC Articles | Clinical Trials

RCM
PubMed Articles | EuropePMC Articles | Clinical Trials

cardiomyopathy, restrictive
PubMed Articles | EuropePMC Articles | Clinical Trials

familial thoracic aortic aneurysm and dissection
PubMed Articles | EuropePMC Articles | Clinical Trials

FAA
PubMed Articles | EuropePMC Articles | Clinical Trials

FTAAD
PubMed Articles | EuropePMC Articles | Clinical Trials

TAA
PubMed Articles | EuropePMC Articles | Clinical Trials

TAAD
PubMed Articles | EuropePMC Articles | Clinical Trials

annuloaortic ectasia
PubMed Articles | EuropePMC Articles | Clinical Trials

congenital aneurysm of ascending aorta
PubMed Articles | EuropePMC Articles | Clinical Trials

familial TAAD
PubMed Articles | EuropePMC Articles | Clinical Trials

familial aortic aneurysm
PubMed Articles | EuropePMC Articles | Clinical Trials

familial aortic dissection
PubMed Articles | EuropePMC Articles | Clinical Trials

familial thoracic aortic aneurysm
PubMed Articles | EuropePMC Articles | Clinical Trials

thoracic aortic aneurysm
PubMed Articles | EuropePMC Articles | Clinical Trials

Fanconi anemia
PubMed Articles | EuropePMC Articles | Clinical Trials

FA
PubMed Articles | EuropePMC Articles | Clinical Trials

Fanconi hypoplastic anemia
PubMed Articles | EuropePMC Articles | Clinical Trials

Fanconi pancytopenia
PubMed Articles | EuropePMC Articles | Clinical Trials

Fanconi panmyelopathy
PubMed Articles | EuropePMC Articles | Clinical Trials

Farber lipogranulomatosis
PubMed Articles | EuropePMC Articles | Clinical Trials

AC deficiency
PubMed Articles | EuropePMC Articles | Clinical Trials

Farber disease
PubMed Articles | EuropePMC Articles | Clinical Trials

Farber's disease
PubMed Articles | EuropePMC Articles | Clinical Trials

Farber's lipogranulomatosis
PubMed Articles | EuropePMC Articles | Clinical Trials

Farber-Uzman syndrome
PubMed Articles | EuropePMC Articles | Clinical Trials

acid ceramidase deficiency
PubMed Articles | EuropePMC Articles | Clinical Trials

acylsphingosine deacylase deficiency
PubMed Articles | EuropePMC Articles | Clinical Trials

ceramidase deficiency
PubMed Articles | EuropePMC Articles | Clinical Trials

fatty acid hydroxylase-associated neurodegeneration
PubMed Articles | EuropePMC Articles | Clinical Trials

FAHN
PubMed Articles | EuropePMC Articles | Clinical Trials

dysmyelinating leukodystrophy and spastic paraparesis
PubMed Articles | EuropePMC Articles | Clinical Trials

spastic paraplegia 35
PubMed Articles | EuropePMC Articles | Clinical Trials

Feingold syndrome
PubMed Articles | EuropePMC Articles | Clinical Trials

microcephaly-mesobrachyphalangy-tracheoesophageal fistula (MMT) syndrome
PubMed Articles | EuropePMC Articles | Clinical Trials

microcephaly-oculo-digito-esophageal-duodenal (MODED) syndrome
PubMed Articles | EuropePMC Articles | Clinical Trials

oculo-digito-esophagoduodental (ODED) syndrome
PubMed Articles | EuropePMC Articles | Clinical Trials

FG syndrome
PubMed Articles | EuropePMC Articles | Clinical Trials

FGS
PubMed Articles | EuropePMC Articles | Clinical Trials

FGS1
PubMed Articles | EuropePMC Articles | Clinical Trials

Keller syndrome
PubMed Articles | EuropePMC Articles | Clinical Trials

OKS
PubMed Articles | EuropePMC Articles | Clinical Trials

Opitz-Kaveggia syndrome
PubMed Articles | EuropePMC Articles | Clinical Trials

mental retardation, large head, imperforate anus, congenital hypotonia, and partial agenesis of the corpus callosum
PubMed Articles | EuropePMC Articles | Clinical Trials

fibrodysplasia ossificans progressiva
PubMed Articles | EuropePMC Articles | Clinical Trials

Myositis Ossificans
PubMed Articles | EuropePMC Articles | Clinical Trials

Myositis ossificans progressiva
PubMed Articles | EuropePMC Articles | Clinical Trials

Progressive myositis ossificans
PubMed Articles | EuropePMC Articles | Clinical Trials

progressive ossifying myositis
PubMed Articles | EuropePMC Articles | Clinical Trials

fibronectin glomerulopathy
PubMed Articles | EuropePMC Articles | Clinical Trials

GFND
PubMed Articles | EuropePMC Articles | Clinical Trials

familial glomerular nephritis with fibronectin deposits
PubMed Articles | EuropePMC Articles | Clinical Trials

familial lobular glomerulopathy
PubMed Articles | EuropePMC Articles | Clinical Trials

glomerulopathy with fibronectin deposits
PubMed Articles | EuropePMC Articles | Clinical Trials

glomerulopathy with giant fibrillar deposits
PubMed Articles | EuropePMC Articles | Clinical Trials

fish-eye disease
PubMed Articles | EuropePMC Articles | Clinical Trials

FED
PubMed Articles | EuropePMC Articles | Clinical Trials

LCATA deficiency
PubMed Articles | EuropePMC Articles | Clinical Trials

alpha-LCAT deficiency
PubMed Articles | EuropePMC Articles | Clinical Trials

alpha-lecithin:cholesterol acyltransferase deficiency
PubMed Articles | EuropePMC Articles | Clinical Trials

dyslipoproteinemic corneal dystrophy
PubMed Articles | EuropePMC Articles | Clinical Trials

partial LCAT deficiency
PubMed Articles | EuropePMC Articles | Clinical Trials

Floating-Harbor syndrome
PubMed Articles | EuropePMC Articles | Clinical Trials

FHS
PubMed Articles | EuropePMC Articles | Clinical Trials

FLHS
PubMed Articles | EuropePMC Articles | Clinical Trials

Leisti-Hollander-Rimoin syndrome
PubMed Articles | EuropePMC Articles | Clinical Trials

Pelletier-Leisti syndrome
PubMed Articles | EuropePMC Articles | Clinical Trials

focal dermal hypoplasia
PubMed Articles | EuropePMC Articles | Clinical Trials

Goltz syndrome
PubMed Articles | EuropePMC Articles | Clinical Trials

Goltz-Gorlin syndrome
PubMed Articles | EuropePMC Articles | Clinical Trials

FOXG1 syndrome
PubMed Articles | EuropePMC Articles | Clinical Trials

FOXG1-related disorder
PubMed Articles | EuropePMC Articles | Clinical Trials

fragile X-associated primary ovarian insufficiency
PubMed Articles | EuropePMC Articles | Clinical Trials

FMR1-related primary ovarian insufficiency
PubMed Articles | EuropePMC Articles | Clinical Trials

FXPOI
PubMed Articles | EuropePMC Articles | Clinical Trials

X-linked hypergonadotropic ovarian failure
PubMed Articles | EuropePMC Articles | Clinical Trials

premature ovarian failure 1
PubMed Articles | EuropePMC Articles | Clinical Trials

fragile X-associated tremor/ataxia syndrome
PubMed Articles | EuropePMC Articles | Clinical Trials

FXTAS
PubMed Articles | EuropePMC Articles | Clinical Trials

fragile X tremor/ataxia syndrome
PubMed Articles | EuropePMC Articles | Clinical Trials

fragile X syndrome
PubMed Articles | EuropePMC Articles | Clinical Trials

FRAXA syndrome
PubMed Articles | EuropePMC Articles | Clinical Trials

FXS
PubMed Articles | EuropePMC Articles | Clinical Trials

Martin-Bell syndrome
PubMed Articles | EuropePMC Articles | Clinical Trials

X-linked mental retardation and macroorchidism
PubMed Articles | EuropePMC Articles | Clinical Trials

fra(X) syndrome
PubMed Articles | EuropePMC Articles | Clinical Trials

marker X syndrome
PubMed Articles | EuropePMC Articles | Clinical Trials

fragile XE syndrome
PubMed Articles | EuropePMC Articles | Clinical Trials

FRAXE intellectual deficit
PubMed Articles | EuropePMC Articles | Clinical Trials

FRAXE intellectual disability
PubMed Articles | EuropePMC Articles | Clinical Trials

FRAXE mental retardation syndrome
PubMed Articles | EuropePMC Articles | Clinical Trials

FRAXE syndrome
PubMed Articles | EuropePMC Articles | Clinical Trials

mental retardation, X-linked, FRAXE type
PubMed Articles | EuropePMC Articles | Clinical Trials

mental retardation, X-linked, associated with fragile site FRAXE
PubMed Articles | EuropePMC Articles | Clinical Trials

Fraser syndrome
PubMed Articles | EuropePMC Articles | Clinical Trials

Fraser's syndrome
PubMed Articles | EuropePMC Articles | Clinical Trials

Fraser-Francois syndrome
PubMed Articles | EuropePMC Articles | Clinical Trials

Meyer-Schwickerath syndrome
PubMed Articles | EuropePMC Articles | Clinical Trials

Ullrich-Feichtiger syndrome
PubMed Articles | EuropePMC Articles | Clinical Trials

cryptophthalmos syndactyly syndrome
PubMed Articles | EuropePMC Articles | Clinical Trials

cryptophthalmos syndrome
PubMed Articles | EuropePMC Articles | Clinical Trials

cryptophthalmos with other malformations
PubMed Articles | EuropePMC Articles | Clinical Trials

Frasier syndrome
PubMed Articles | EuropePMC Articles | Clinical Trials

FS
PubMed Articles | EuropePMC Articles | Clinical Trials

Freeman-Sheldon syndrome
PubMed Articles | EuropePMC Articles | Clinical Trials

DA2A
PubMed Articles | EuropePMC Articles | Clinical Trials

FSS
PubMed Articles | EuropePMC Articles | Clinical Trials

craniocarpotarsal dysplasia
PubMed Articles | EuropePMC Articles | Clinical Trials

craniocarpotarsal dystrophy
PubMed Articles | EuropePMC Articles | Clinical Trials

distal arthrogryposis, type 2A
PubMed Articles | EuropePMC Articles | Clinical Trials

whistling face syndrome
PubMed Articles | EuropePMC Articles | Clinical Trials

whistling face-windmill vane hand syndrome
PubMed Articles | EuropePMC Articles | Clinical Trials

Friedreich ataxia
PubMed Articles | EuropePMC Articles | Clinical Trials

FA
PubMed Articles | EuropePMC Articles | Clinical Trials

FRDA
PubMed Articles | EuropePMC Articles | Clinical Trials

Friedreich spinocerebellar ataxia
PubMed Articles | EuropePMC Articles | Clinical Trials

frontometaphyseal dysplasia
PubMed Articles | EuropePMC Articles | Clinical Trials

FMD
PubMed Articles | EuropePMC Articles | Clinical Trials

frontonasal dysplasia
PubMed Articles | EuropePMC Articles | Clinical Trials

FND
PubMed Articles | EuropePMC Articles | Clinical Trials

FNM
PubMed Articles | EuropePMC Articles | Clinical Trials

frontonasal dysplasia sequence
PubMed Articles | EuropePMC Articles | Clinical Trials

frontonasal malformation
PubMed Articles | EuropePMC Articles | Clinical Trials

frontorhiny
PubMed Articles | EuropePMC Articles | Clinical Trials

median facial cleft syndrome
PubMed Articles | EuropePMC Articles | Clinical Trials

frontotemporal dementia with parkinsonism-17
PubMed Articles | EuropePMC Articles | Clinical Trials

DDPAC
PubMed Articles | EuropePMC Articles | Clinical Trials

FTDP-17
PubMed Articles | EuropePMC Articles | Clinical Trials

Wilhelmsen-Lynch disease
PubMed Articles | EuropePMC Articles | Clinical Trials

disinhibition-dementia-parkinsonism-amytrophy complex
PubMed Articles | EuropePMC Articles | Clinical Trials

familial Pick's disease
PubMed Articles | EuropePMC Articles | Clinical Trials

Fryns syndrome
PubMed Articles | EuropePMC Articles | Clinical Trials

diaphragmatic hernia, abnormal face, and distal limb anomalies
PubMed Articles | EuropePMC Articles | Clinical Trials

Fuchs endothelial dystrophy
PubMed Articles | EuropePMC Articles | Clinical Trials

Fuchs atrophy
PubMed Articles | EuropePMC Articles | Clinical Trials

Fuchs corneal dystrophy
PubMed Articles | EuropePMC Articles | Clinical Trials

Fuchs dystrophy
PubMed Articles | EuropePMC Articles | Clinical Trials

Fuchs endothelial corneal dystrophy
PubMed Articles | EuropePMC Articles | Clinical Trials

Fuchs' endothelial dystrophy
PubMed Articles | EuropePMC Articles | Clinical Trials

fucosidosis
PubMed Articles | EuropePMC Articles | Clinical Trials

Alpha-fucosidase deficiency
PubMed Articles | EuropePMC Articles | Clinical Trials

Fucosidase Deficiency Disease
PubMed Articles | EuropePMC Articles | Clinical Trials

Fucosidase deficiency
PubMed Articles | EuropePMC Articles | Clinical Trials

Fukuyama congenital muscular dystrophy
PubMed Articles | EuropePMC Articles | Clinical Trials

Cerebromuscular dystrophy, Fukuyama type
PubMed Articles | EuropePMC Articles | Clinical Trials

FCMD
PubMed Articles | EuropePMC Articles | Clinical Trials

Fukuyama CMD
PubMed Articles | EuropePMC Articles | Clinical Trials

Fukuyama muscular dystrophy
PubMed Articles | EuropePMC Articles | Clinical Trials

Fukuyama syndrome
PubMed Articles | EuropePMC Articles | Clinical Trials

Fukuyama type congenital muscular dystrophy
PubMed Articles | EuropePMC Articles | Clinical Trials

Muscular dystrophy, congenital progressive, with mental retardation
PubMed Articles | EuropePMC Articles | Clinical Trials

Muscular dystrophy, congenital, Fukuyama type
PubMed Articles | EuropePMC Articles | Clinical Trials

Muscular dystrophy, congenital, with central nervous system involvement
PubMed Articles | EuropePMC Articles | Clinical Trials

Polymicrogyria with muscular dystrophy
PubMed Articles | EuropePMC Articles | Clinical Trials

fumarase deficiency
PubMed Articles | EuropePMC Articles | Clinical Trials

fumarate hydratase deficiency
PubMed Articles | EuropePMC Articles | Clinical Trials

fumaric aciduria
PubMed Articles | EuropePMC Articles | Clinical Trials

galactosemia
PubMed Articles | EuropePMC Articles | Clinical Trials

GALE deficiency
PubMed Articles | EuropePMC Articles | Clinical Trials

GALK deficiency
PubMed Articles | EuropePMC Articles | Clinical Trials

GALT deficiency
PubMed Articles | EuropePMC Articles | Clinical Trials

UDP-galactose-4-epimerase deficiency disease
PubMed Articles | EuropePMC Articles | Clinical Trials

UTP hexose-1-phosphate uridylyltransferase deficiency
PubMed Articles | EuropePMC Articles | Clinical Trials

classic galactosemia
PubMed Articles | EuropePMC Articles | Clinical Trials

epimerase deficiency galactosemia
PubMed Articles | EuropePMC Articles | Clinical Trials

galactokinase deficiency disease
PubMed Articles | EuropePMC Articles | Clinical Trials

galactose epimerase deficiency
PubMed Articles | EuropePMC Articles | Clinical Trials

galactose-1-phosphate uridyl-transferase deficiency disease
PubMed Articles | EuropePMC Articles | Clinical Trials

galactosialidosis
PubMed Articles | EuropePMC Articles | Clinical Trials

Goldberg syndrome
PubMed Articles | EuropePMC Articles | Clinical Trials

PPCA deficiency
PubMed Articles | EuropePMC Articles | Clinical Trials

deficiency of cathepsin A
PubMed Articles | EuropePMC Articles | Clinical Trials

lysosomal protective protein deficiency
PubMed Articles | EuropePMC Articles | Clinical Trials

neuraminidase deficiency with beta-galactosidase deficiency
PubMed Articles | EuropePMC Articles | Clinical Trials

gastrointestinal stromal tumor
PubMed Articles | EuropePMC Articles | Clinical Trials

GIST
PubMed Articles | EuropePMC Articles | Clinical Trials

gastrointestinal stromal neoplasm
PubMed Articles | EuropePMC Articles | Clinical Trials

gastrointestinal stromal sarcoma
PubMed Articles | EuropePMC Articles | Clinical Trials

Gaucher disease
PubMed Articles | EuropePMC Articles | Clinical Trials

GD
PubMed Articles | EuropePMC Articles | Clinical Trials

Gaucher splenomegaly
PubMed Articles | EuropePMC Articles | Clinical Trials

Gaucher syndrome
PubMed Articles | EuropePMC Articles | Clinical Trials

Gaucher's disease
PubMed Articles | EuropePMC Articles | Clinical Trials

Gauchers disease
PubMed Articles | EuropePMC Articles | Clinical Trials

cerebroside lipidosis syndrome
PubMed Articles | EuropePMC Articles | Clinical Trials

glucocerebrosidase deficiency
PubMed Articles | EuropePMC Articles | Clinical Trials

glucocerebrosidosis
PubMed Articles | EuropePMC Articles | Clinical Trials

glucosyl cerebroside lipidosis
PubMed Articles | EuropePMC Articles | Clinical Trials

glucosylceramidase deficiency
PubMed Articles | EuropePMC Articles | Clinical Trials

glucosylceramide beta-glucosidase deficiency
PubMed Articles | EuropePMC Articles | Clinical Trials

glucosylceramide lipidosis
PubMed Articles | EuropePMC Articles | Clinical Trials

kerasin histiocytosis
PubMed Articles | EuropePMC Articles | Clinical Trials

kerasin lipoidosis
PubMed Articles | EuropePMC Articles | Clinical Trials

kerasin thesaurismosis
PubMed Articles | EuropePMC Articles | Clinical Trials

lipoid histiocytosis (kerasin type)
PubMed Articles | EuropePMC Articles | Clinical Trials

geleophysic dysplasia
PubMed Articles | EuropePMC Articles | Clinical Trials

geleophysic dwarfism
PubMed Articles | EuropePMC Articles | Clinical Trials

generalized arterial calcification of infancy
PubMed Articles | EuropePMC Articles | Clinical Trials

GACI
PubMed Articles | EuropePMC Articles | Clinical Trials

IIAC
PubMed Articles | EuropePMC Articles | Clinical Trials

arteriopathia calcificans infantum
PubMed Articles | EuropePMC Articles | Clinical Trials

diffuse arterial calcifying elastopathy of infancy
PubMed Articles | EuropePMC Articles | Clinical Trials

idiopathic infantile arterial calcification
PubMed Articles | EuropePMC Articles | Clinical Trials

idiopathic obliterative arteriopathy
PubMed Articles | EuropePMC Articles | Clinical Trials

infantile calcifying arteriopathy
PubMed Articles | EuropePMC Articles | Clinical Trials

medial coronary sclerosis of infancy
PubMed Articles | EuropePMC Articles | Clinical Trials

occlusive infantile arteriopathy
PubMed Articles | EuropePMC Articles | Clinical Trials

genitopatellar syndrome
PubMed Articles | EuropePMC Articles | Clinical Trials

GPS
PubMed Articles | EuropePMC Articles | Clinical Trials

absent patellae, scrotal hypoplasia, renal anomalies, facial dysmorphism, and mental retardation
PubMed Articles | EuropePMC Articles | Clinical Trials

Ghosal hematodiaphyseal dysplasia
PubMed Articles | EuropePMC Articles | Clinical Trials

GHDD
PubMed Articles | EuropePMC Articles | Clinical Trials

Ghosal hemato-diaphyseal dysplasia
PubMed Articles | EuropePMC Articles | Clinical Trials

Ghosal syndrome
PubMed Articles | EuropePMC Articles | Clinical Trials

Ghosal-type hemato-diaphyseal dysplasia
PubMed Articles | EuropePMC Articles | Clinical Trials

diaphyseal dysplasia associated with anemia
PubMed Articles | EuropePMC Articles | Clinical Trials

giant axonal neuropathy
PubMed Articles | EuropePMC Articles | Clinical Trials

GAN
PubMed Articles | EuropePMC Articles | Clinical Trials

neuropathy, giant axonal
PubMed Articles | EuropePMC Articles | Clinical Trials

giant congenital melanocytic nevus
PubMed Articles | EuropePMC Articles | Clinical Trials

GMN
PubMed Articles | EuropePMC Articles | Clinical Trials

GPHN
PubMed Articles | EuropePMC Articles | Clinical Trials

congenital giant pigmented nevus of skin
PubMed Articles | EuropePMC Articles | Clinical Trials

congenital melanocytic nevus syndrome
PubMed Articles | EuropePMC Articles | Clinical Trials

giant congenital melanocytic nevi
PubMed Articles | EuropePMC Articles | Clinical Trials

giant congenital pigmented nevus
PubMed Articles | EuropePMC Articles | Clinical Trials

giant pigmented hairy nevus
PubMed Articles | EuropePMC Articles | Clinical Trials

Gilbert syndrome
PubMed Articles | EuropePMC Articles | Clinical Trials

Gilbert disease
PubMed Articles | EuropePMC Articles | Clinical Trials

Gilbert's disease
PubMed Articles | EuropePMC Articles | Clinical Trials

Gilbert's syndrome
PubMed Articles | EuropePMC Articles | Clinical Trials

Gilbert-Lereboullet syndrome
PubMed Articles | EuropePMC Articles | Clinical Trials

Meulengracht syndrome
PubMed Articles | EuropePMC Articles | Clinical Trials

constitutional liver dysfunction
PubMed Articles | EuropePMC Articles | Clinical Trials

familial nonhemolytic jaundice
PubMed Articles | EuropePMC Articles | Clinical Trials

hyperbilirubinemia 1
PubMed Articles | EuropePMC Articles | Clinical Trials

unconjugated benign bilirubinemia
PubMed Articles | EuropePMC Articles | Clinical Trials

Gillespie syndrome
PubMed Articles | EuropePMC Articles | Clinical Trials

aniridia, cerebellar ataxia, and mental retardation
PubMed Articles | EuropePMC Articles | Clinical Trials

aniridia-cerebellar ataxia-intellectual disability
PubMed Articles | EuropePMC Articles | Clinical Trials

aniridia-cerebellar ataxia-mental deficiency
PubMed Articles | EuropePMC Articles | Clinical Trials

partial aniridia-cerebellar ataxia-oligophrenia
PubMed Articles | EuropePMC Articles | Clinical Trials

Gitelman syndrome
PubMed Articles | EuropePMC Articles | Clinical Trials

GS
PubMed Articles | EuropePMC Articles | Clinical Trials

Gitelman's syndrome
PubMed Articles | EuropePMC Articles | Clinical Trials

familial hypokalemia-hypomagnesemia
PubMed Articles | EuropePMC Articles | Clinical Trials

hypokalemia-hypomagnesemia, primary renotubular, with hypocalciuria
PubMed Articles | EuropePMC Articles | Clinical Trials

tubular hypomagnesemia-hypokalemia with hypocalcuria
PubMed Articles | EuropePMC Articles | Clinical Trials

Glanzmann thrombasthenia
PubMed Articles | EuropePMC Articles | Clinical Trials

Glanzmann disease
PubMed Articles | EuropePMC Articles | Clinical Trials

Glanzmann-Naegeli disorder
PubMed Articles | EuropePMC Articles | Clinical Trials

deficiency of glycoprotein complex IIb-IIIa
PubMed Articles | EuropePMC Articles | Clinical Trials

deficiency of platelet fibrinogen receptor
PubMed Articles | EuropePMC Articles | Clinical Trials

glycoprotein IIb/IIIa defect
PubMed Articles | EuropePMC Articles | Clinical Trials

hereditary hemorrhagic thrombasthenia
PubMed Articles | EuropePMC Articles | Clinical Trials

hereditary thrombasthenia
PubMed Articles | EuropePMC Articles | Clinical Trials

platelet fibrinogen receptor deficiency
PubMed Articles | EuropePMC Articles | Clinical Trials

globozoospermia
PubMed Articles | EuropePMC Articles | Clinical Trials

acrosome malformation of spermatozoa
PubMed Articles | EuropePMC Articles | Clinical Trials

round-headed spermatozoa
PubMed Articles | EuropePMC Articles | Clinical Trials

glucose-6-phosphate dehydrogenase deficiency
PubMed Articles | EuropePMC Articles | Clinical Trials

Deficiency of glucose-6-phosphate dehydrogenase
PubMed Articles | EuropePMC Articles | Clinical Trials

G6PD Deficiency
PubMed Articles | EuropePMC Articles | Clinical Trials

G6PDD
PubMed Articles | EuropePMC Articles | Clinical Trials

glucose 6 phosphate dehydrogenase deficiency
PubMed Articles | EuropePMC Articles | Clinical Trials

glucose-galactose malabsorption
PubMed Articles | EuropePMC Articles | Clinical Trials

GGM
PubMed Articles | EuropePMC Articles | Clinical Trials

carbohydrate intolerance
PubMed Articles | EuropePMC Articles | Clinical Trials

complex carbohydrate intolerance
PubMed Articles | EuropePMC Articles | Clinical Trials

monosaccharide malabsorption
PubMed Articles | EuropePMC Articles | Clinical Trials

glucose phosphate isomerase deficiency
PubMed Articles | EuropePMC Articles | Clinical Trials

GPI deficiency
PubMed Articles | EuropePMC Articles | Clinical Trials

glucose-6-phosphate isomerase deficiency
PubMed Articles | EuropePMC Articles | Clinical Trials

glucosephosphate isomerase deficiency
PubMed Articles | EuropePMC Articles | Clinical Trials

nonspherocytic hemolytic anemia due to glucose phosphate isomerase deficiency
PubMed Articles | EuropePMC Articles | Clinical Trials

GLUT1 deficiency syndrome
PubMed Articles | EuropePMC Articles | Clinical Trials

De Vivo disease
PubMed Articles | EuropePMC Articles | Clinical Trials

G1D
PubMed Articles | EuropePMC Articles | Clinical Trials

GLUT1 DS
PubMed Articles | EuropePMC Articles | Clinical Trials

GTPS
PubMed Articles | EuropePMC Articles | Clinical Trials

Glut1 deficiency
PubMed Articles | EuropePMC Articles | Clinical Trials

encephalopathy due to GLUT1 deficiency
PubMed Articles | EuropePMC Articles | Clinical Trials

glucose transport defect, blood-brain barrier
PubMed Articles | EuropePMC Articles | Clinical Trials

glucose transporter protein syndrome
PubMed Articles | EuropePMC Articles | Clinical Trials

glucose transporter type 1 deficiency syndrome
PubMed Articles | EuropePMC Articles | Clinical Trials

glutamate formiminotransferase deficiency
PubMed Articles | EuropePMC Articles | Clinical Trials

Arakawa syndrome 1
PubMed Articles | EuropePMC Articles | Clinical Trials

FIGLU-uria
PubMed Articles | EuropePMC Articles | Clinical Trials

formiminoglutamic aciduria
PubMed Articles | EuropePMC Articles | Clinical Trials

formiminotransferase deficiency
PubMed Articles | EuropePMC Articles | Clinical Trials

glutaric acidemia type I
PubMed Articles | EuropePMC Articles | Clinical Trials

GA I
PubMed Articles | EuropePMC Articles | Clinical Trials

Glutaric acidemia I
PubMed Articles | EuropePMC Articles | Clinical Trials

Glutaric acidemia type 1
PubMed Articles | EuropePMC Articles | Clinical Trials

Glutaric aciduria I
PubMed Articles | EuropePMC Articles | Clinical Trials

Glutaryl-CoA dehydrogenase deficiency
PubMed Articles | EuropePMC Articles | Clinical Trials

glutaric acidemia type II
PubMed Articles | EuropePMC Articles | Clinical Trials

EMA
PubMed Articles | EuropePMC Articles | Clinical Trials

ETFA deficiency
PubMed Articles | EuropePMC Articles | Clinical Trials

ETFB deficiency
PubMed Articles | EuropePMC Articles | Clinical Trials

ETFDH deficiency
PubMed Articles | EuropePMC Articles | Clinical Trials

GA II
PubMed Articles | EuropePMC Articles | Clinical Trials

MAD
PubMed Articles | EuropePMC Articles | Clinical Trials

MADD
PubMed Articles | EuropePMC Articles | Clinical Trials

electron transfer flavoprotein deficiency
PubMed Articles | EuropePMC Articles | Clinical Trials

ethylmalonic-adipicaciduria
PubMed Articles | EuropePMC Articles | Clinical Trials

glutaric acidemia, type 2
PubMed Articles | EuropePMC Articles | Clinical Trials

glutaric aciduria, type 2
PubMed Articles | EuropePMC Articles | Clinical Trials

multiple FAD dehydrogenase deficiency
PubMed Articles | EuropePMC Articles | Clinical Trials

multiple acyl-CoA dehydrogenase deficiency
PubMed Articles | EuropePMC Articles | Clinical Trials

glutathione synthetase deficiency
PubMed Articles | EuropePMC Articles | Clinical Trials

5-oxoprolinemia
PubMed Articles | EuropePMC Articles | Clinical Trials

5-oxoprolinuria
PubMed Articles | EuropePMC Articles | Clinical Trials

deficiency of glutathione synthase
PubMed Articles | EuropePMC Articles | Clinical Trials

deficiency of glutathione synthetase
PubMed Articles | EuropePMC Articles | Clinical Trials

pyroglutamic acidemia
PubMed Articles | EuropePMC Articles | Clinical Trials

pyroglutamic aciduria
PubMed Articles | EuropePMC Articles | Clinical Trials

glycine encephalopathy
PubMed Articles | EuropePMC Articles | Clinical Trials

Hyperglycinemia, Nonketotic
PubMed Articles | EuropePMC Articles | Clinical Trials

NKH
PubMed Articles | EuropePMC Articles | Clinical Trials

Nonketotic Hyperglycinemia
PubMed Articles | EuropePMC Articles | Clinical Trials

non-ketotic hyperglycinemia
PubMed Articles | EuropePMC Articles | Clinical Trials

glycogen storage disease type 0
PubMed Articles | EuropePMC Articles | Clinical Trials

GSD 0
PubMed Articles | EuropePMC Articles | Clinical Trials

GSD type 0
PubMed Articles | EuropePMC Articles | Clinical Trials

glycogen storage disease 0
PubMed Articles | EuropePMC Articles | Clinical Trials

glycogen synthase deficiency
PubMed Articles | EuropePMC Articles | Clinical Trials

glycogen synthetase deficiency
PubMed Articles | EuropePMC Articles | Clinical Trials

hypoglycemia with deficiency of glycogen synthetase
PubMed Articles | EuropePMC Articles | Clinical Trials

glycogen storage disease type I
PubMed Articles | EuropePMC Articles | Clinical Trials

GSD I
PubMed Articles | EuropePMC Articles | Clinical Trials

GSD type I
PubMed Articles | EuropePMC Articles | Clinical Trials

glucose-6-phosphate deficiency
PubMed Articles | EuropePMC Articles | Clinical Trials

glucose-6-phosphate transport defect
PubMed Articles | EuropePMC Articles | Clinical Trials

hepatorenal form of glycogen storage disease
PubMed Articles | EuropePMC Articles | Clinical Trials

hepatorenal glycogenosis
PubMed Articles | EuropePMC Articles | Clinical Trials

von Gierke disease
PubMed Articles | EuropePMC Articles | Clinical Trials

von Gierke's disease
PubMed Articles | EuropePMC Articles | Clinical Trials

glycogen storage disease type III
PubMed Articles | EuropePMC Articles | Clinical Trials

AGL deficiency
PubMed Articles | EuropePMC Articles | Clinical Trials

Cori disease
PubMed Articles | EuropePMC Articles | Clinical Trials

Cori's disease
PubMed Articles | EuropePMC Articles | Clinical Trials

Forbes disease
PubMed Articles | EuropePMC Articles | Clinical Trials

GSD III
PubMed Articles | EuropePMC Articles | Clinical Trials

GSD3
PubMed Articles | EuropePMC Articles | Clinical Trials

debrancher deficiency
PubMed Articles | EuropePMC Articles | Clinical Trials

glycogen debrancher deficiency
PubMed Articles | EuropePMC Articles | Clinical Trials

limit dextrinosis
PubMed Articles | EuropePMC Articles | Clinical Trials

glycogen storage disease type IV
PubMed Articles | EuropePMC Articles | Clinical Trials

Andersen disease
PubMed Articles | EuropePMC Articles | Clinical Trials

Andersen glycogenosis
PubMed Articles | EuropePMC Articles | Clinical Trials

Andersen's disease
PubMed Articles | EuropePMC Articles | Clinical Trials

GSD IV
PubMed Articles | EuropePMC Articles | Clinical Trials

GSD type IV
PubMed Articles | EuropePMC Articles | Clinical Trials

GSD4
PubMed Articles | EuropePMC Articles | Clinical Trials

amylopectinosis
PubMed Articles | EuropePMC Articles | Clinical Trials

brancher deficiency
PubMed Articles | EuropePMC Articles | Clinical Trials

branching enzyme deficiency
PubMed Articles | EuropePMC Articles | Clinical Trials

glycogen branching enzyme deficiency
PubMed Articles | EuropePMC Articles | Clinical Trials

glycogen storage disease IV
PubMed Articles | EuropePMC Articles | Clinical Trials

glycogen storage disease type 4
PubMed Articles | EuropePMC Articles | Clinical Trials

glycogenosis 4
PubMed Articles | EuropePMC Articles | Clinical Trials

glycogenosis, type IV
PubMed Articles | EuropePMC Articles | Clinical Trials

type IV glycogenosis
PubMed Articles | EuropePMC Articles | Clinical Trials

glycogen storage disease type IX
PubMed Articles | EuropePMC Articles | Clinical Trials

GSD IX
PubMed Articles | EuropePMC Articles | Clinical Trials

GSDIX
PubMed Articles | EuropePMC Articles | Clinical Trials

PhK deficiency
PubMed Articles | EuropePMC Articles | Clinical Trials

phosphorylase b kinase deficiency
PubMed Articles | EuropePMC Articles | Clinical Trials

phosphorylase kinase deficiency
PubMed Articles | EuropePMC Articles | Clinical Trials

glycogen storage disease type V
PubMed Articles | EuropePMC Articles | Clinical Trials

GSD V
PubMed Articles | EuropePMC Articles | Clinical Trials

GSD type V
PubMed Articles | EuropePMC Articles | Clinical Trials

McArdle disease
PubMed Articles | EuropePMC Articles | Clinical Trials

McArdle syndrome
PubMed Articles | EuropePMC Articles | Clinical Trials

McArdle type glycogen storage disease
PubMed Articles | EuropePMC Articles | Clinical Trials

McArdle's disease
PubMed Articles | EuropePMC Articles | Clinical Trials

PYGM deficiency
PubMed Articles | EuropePMC Articles | Clinical Trials

glycogen storage disease type 5
PubMed Articles | EuropePMC Articles | Clinical Trials

glycogenosis 5
PubMed Articles | EuropePMC Articles | Clinical Trials

muscle glycogen phosphorylase deficiency
PubMed Articles | EuropePMC Articles | Clinical Trials

muscle phosphorylase deficiency
PubMed Articles | EuropePMC Articles | Clinical Trials

myophosphorylase deficiency
PubMed Articles | EuropePMC Articles | Clinical Trials

glycogen storage disease type VI
PubMed Articles | EuropePMC Articles | Clinical Trials

GSD VI
PubMed Articles | EuropePMC Articles | Clinical Trials

GSD type VI
PubMed Articles | EuropePMC Articles | Clinical Trials

GSD6
PubMed Articles | EuropePMC Articles | Clinical Trials

Hers disease
PubMed Articles | EuropePMC Articles | Clinical Trials

hepatic glycogen phosphorylase deficiency
PubMed Articles | EuropePMC Articles | Clinical Trials

liver phosphorylase deficiency syndrome
PubMed Articles | EuropePMC Articles | Clinical Trials

glycogen storage disease type VII
PubMed Articles | EuropePMC Articles | Clinical Trials

GSD VII
PubMed Articles | EuropePMC Articles | Clinical Trials

GSD7
PubMed Articles | EuropePMC Articles | Clinical Trials

PFKM deficiency
PubMed Articles | EuropePMC Articles | Clinical Trials

Tarui disease
PubMed Articles | EuropePMC Articles | Clinical Trials

glycogenosis 7
PubMed Articles | EuropePMC Articles | Clinical Trials

muscle phosphofructokinase deficiency
PubMed Articles | EuropePMC Articles | Clinical Trials

phosphofructokinase deficiency
PubMed Articles | EuropePMC Articles | Clinical Trials

GM1 gangliosidosis
PubMed Articles | EuropePMC Articles | Clinical Trials

beta-galactosidase-1 (GLB1) deficiency
PubMed Articles | EuropePMC Articles | Clinical Trials

GM2-gangliosidosis, AB variant
PubMed Articles | EuropePMC Articles | Clinical Trials

AB variant
PubMed Articles | EuropePMC Articles | Clinical Trials

Activator Deficiency/GM2 Gangliosidosis
PubMed Articles | EuropePMC Articles | Clinical Trials

Activator-deficient Tay-Sachs disease
PubMed Articles | EuropePMC Articles | Clinical Trials

GM2 Activator Deficiency Disease
PubMed Articles | EuropePMC Articles | Clinical Trials

GM2 gangliosidosis, type AB
PubMed Articles | EuropePMC Articles | Clinical Trials

Hexosaminidase activator deficiency
PubMed Articles | EuropePMC Articles | Clinical Trials

Tay-Sachs Disease, AB Variant
PubMed Articles | EuropePMC Articles | Clinical Trials

GM3 synthase deficiency
PubMed Articles | EuropePMC Articles | Clinical Trials

Amish infantile epilepsy syndrome
PubMed Articles | EuropePMC Articles | Clinical Trials

epilepsy syndrome, infantile-onset symptomatic
PubMed Articles | EuropePMC Articles | Clinical Trials

ganglioside GM3 synthase deficiency
PubMed Articles | EuropePMC Articles | Clinical Trials

ganglioside GM3 synthase deficiency
PubMed Articles | EuropePMC Articles | Clinical Trials

infantile-onset symptomatic epilepsy syndrome
PubMed Articles | EuropePMC Articles | Clinical Trials

gnathodiaphyseal dysplasia
PubMed Articles | EuropePMC Articles | Clinical Trials

GDD
PubMed Articles | EuropePMC Articles | Clinical Trials

Levin syndrome 2
PubMed Articles | EuropePMC Articles | Clinical Trials

gnathodiaphyseal sclerosis
PubMed Articles | EuropePMC Articles | Clinical Trials

osteogenesis imperfecta with unusual skeletal lesions
PubMed Articles | EuropePMC Articles | Clinical Trials

osteogenesis imperfecta, Levin type
PubMed Articles | EuropePMC Articles | Clinical Trials

Gorlin syndrome
PubMed Articles | EuropePMC Articles | Clinical Trials

BCNS
PubMed Articles | EuropePMC Articles | Clinical Trials

Gorlin-Goltz syndrome
PubMed Articles | EuropePMC Articles | Clinical Trials

NBCCS
PubMed Articles | EuropePMC Articles | Clinical Trials

basal cell nevus syndrome
PubMed Articles | EuropePMC Articles | Clinical Trials

nevoid basal cell carcinoma syndrome
PubMed Articles | EuropePMC Articles | Clinical Trials

GRACILE syndrome
PubMed Articles | EuropePMC Articles | Clinical Trials

Fellman syndrome
PubMed Articles | EuropePMC Articles | Clinical Trials

Finnish lactic acidosis with hepatic hemosiderosis
PubMed Articles | EuropePMC Articles | Clinical Trials

Finnish lethal neonatal metabolic syndrome
PubMed Articles | EuropePMC Articles | Clinical Trials

growth retardation, amino aciduria, cholestasis, iron overload, lactic acidosis, and early death
PubMed Articles | EuropePMC Articles | Clinical Trials

granulomatosis with polyangiitis
PubMed Articles | EuropePMC Articles | Clinical Trials

GPA
PubMed Articles | EuropePMC Articles | Clinical Trials

Wegener granulomatosis
PubMed Articles | EuropePMC Articles | Clinical Trials

Wegener's granulomatosis
PubMed Articles | EuropePMC Articles | Clinical Trials

Graves disease
PubMed Articles | EuropePMC Articles | Clinical Trials

Basedow disease
PubMed Articles | EuropePMC Articles | Clinical Trials

Basedow's disease
PubMed Articles | EuropePMC Articles | Clinical Trials

Graves' disease
PubMed Articles | EuropePMC Articles | Clinical Trials

autoimmune hyperthyroidism
PubMed Articles | EuropePMC Articles | Clinical Trials

exophthalmic goiter
PubMed Articles | EuropePMC Articles | Clinical Trials

toxic diffuse goiter
PubMed Articles | EuropePMC Articles | Clinical Trials

gray platelet syndrome
PubMed Articles | EuropePMC Articles | Clinical Trials

BDPLT4
PubMed Articles | EuropePMC Articles | Clinical Trials

GPS
PubMed Articles | EuropePMC Articles | Clinical Trials

bleeding disorder, platelet-type, 4
PubMed Articles | EuropePMC Articles | Clinical Trials

deficient alpha granule syndrome
PubMed Articles | EuropePMC Articles | Clinical Trials

grey platelet syndrome
PubMed Articles | EuropePMC Articles | Clinical Trials

platelet alpha granule deficiency
PubMed Articles | EuropePMC Articles | Clinical Trials

platelet alpha-granule deficiency
PubMed Articles | EuropePMC Articles | Clinical Trials

platelet granule defect
PubMed Articles | EuropePMC Articles | Clinical Trials

Greenberg dysplasia
PubMed Articles | EuropePMC Articles | Clinical Trials

Greenberg skeletal dysplasia
PubMed Articles | EuropePMC Articles | Clinical Trials

HEM dysplasia
PubMed Articles | EuropePMC Articles | Clinical Trials

HEM skeletal dysplasia
PubMed Articles | EuropePMC Articles | Clinical Trials

chondrodystrophy, hydropic and prenatally lethal type
PubMed Articles | EuropePMC Articles | Clinical Trials

hydrops - ectopic calcification - moth-eaten skeletal dysplasia
PubMed Articles | EuropePMC Articles | Clinical Trials

moth-eaten skeletal dysplasia
PubMed Articles | EuropePMC Articles | Clinical Trials

Greig cephalopolysyndactyly syndrome
PubMed Articles | EuropePMC Articles | Clinical Trials

Greig cephalopolysyndactyly (GCPS) syndrome
PubMed Articles | EuropePMC Articles | Clinical Trials

Greig syndrome
PubMed Articles | EuropePMC Articles | Clinical Trials

cephalopolysyndactyly syndrome
PubMed Articles | EuropePMC Articles | Clinical Trials

Griscelli syndrome
PubMed Articles | EuropePMC Articles | Clinical Trials

GS
PubMed Articles | EuropePMC Articles | Clinical Trials

hypopigmentation immunodeficiency disease
PubMed Articles | EuropePMC Articles | Clinical Trials

partial albinism with immunodeficiency
PubMed Articles | EuropePMC Articles | Clinical Trials

GRN-related frontotemporal dementia
PubMed Articles | EuropePMC Articles | Clinical Trials

FTD-GRN
PubMed Articles | EuropePMC Articles | Clinical Trials

FTD-PGRN
PubMed Articles | EuropePMC Articles | Clinical Trials

FTDP-17 GRN
PubMed Articles | EuropePMC Articles | Clinical Trials

FTDU-17
PubMed Articles | EuropePMC Articles | Clinical Trials

FTLD
PubMed Articles | EuropePMC Articles | Clinical Trials

FTLD with TDP-43 pathology
PubMed Articles | EuropePMC Articles | Clinical Trials

FTLD-TDP
PubMed Articles | EuropePMC Articles | Clinical Trials

HDDD1
PubMed Articles | EuropePMC Articles | Clinical Trials

HDDD2
PubMed Articles | EuropePMC Articles | Clinical Trials

frontotemporal lobar degeneration
PubMed Articles | EuropePMC Articles | Clinical Trials

hereditary dysphasic disinhibition dementia
PubMed Articles | EuropePMC Articles | Clinical Trials

guanidinoacetate methyltransferase deficiency
PubMed Articles | EuropePMC Articles | Clinical Trials

GAMT deficiency
PubMed Articles | EuropePMC Articles | Clinical Trials

creatine deficiency syndrome due to GAMT deficiency
PubMed Articles | EuropePMC Articles | Clinical Trials

deficiency of guanidinoacetate methyltransferase
PubMed Articles | EuropePMC Articles | Clinical Trials

Guillain-Barré syndrome
PubMed Articles | EuropePMC Articles | Clinical Trials

Fisher syndrome
PubMed Articles | EuropePMC Articles | Clinical Trials

GBS
PubMed Articles | EuropePMC Articles | Clinical Trials

Guillain-Barre syndrome
PubMed Articles | EuropePMC Articles | Clinical Trials

Landry-Guillain-Barre syndrome
PubMed Articles | EuropePMC Articles | Clinical Trials

acute infectious polyneuritis
PubMed Articles | EuropePMC Articles | Clinical Trials

acute inflammatory polyneuropathy
PubMed Articles | EuropePMC Articles | Clinical Trials

gyrate atrophy of the choroid and retina
PubMed Articles | EuropePMC Articles | Clinical Trials

HOGA
PubMed Articles | EuropePMC Articles | Clinical Trials

OAT deficiency
PubMed Articles | EuropePMC Articles | Clinical Trials

OKT deficiency
PubMed Articles | EuropePMC Articles | Clinical Trials

Ornithinemia with gyrate atrophy
PubMed Articles | EuropePMC Articles | Clinical Trials

gyrate atrophy
PubMed Articles | EuropePMC Articles | Clinical Trials

hyperornithinemia with gyrate atrophy of choroid and retina
PubMed Articles | EuropePMC Articles | Clinical Trials

ornithine aminotransferase deficiency
PubMed Articles | EuropePMC Articles | Clinical Trials

ornithine keto acid aminotransferase deficiency
PubMed Articles | EuropePMC Articles | Clinical Trials

ornithine-delta-aminotransferase deficiency
PubMed Articles | EuropePMC Articles | Clinical Trials

Hajdu-Cheney syndrome
PubMed Articles | EuropePMC Articles | Clinical Trials

Cheney syndrome
PubMed Articles | EuropePMC Articles | Clinical Trials

HJCYS
PubMed Articles | EuropePMC Articles | Clinical Trials

SFPKS
PubMed Articles | EuropePMC Articles | Clinical Trials

acroosteolysis dominant type
PubMed Articles | EuropePMC Articles | Clinical Trials

acroosteolysis with osteoporosis and changes in skull and mandible
PubMed Articles | EuropePMC Articles | Clinical Trials

arthro-dento-osteo dysplasia
PubMed Articles | EuropePMC Articles | Clinical Trials

arthrodentoosteodysplasia
PubMed Articles | EuropePMC Articles | Clinical Trials

cranioskeletal dysplasia with acro-osteolysis
PubMed Articles | EuropePMC Articles | Clinical Trials

familial osteodysplasia
PubMed Articles | EuropePMC Articles | Clinical Trials

hereditary osteodysplasia with acro-osteolysis
PubMed Articles | EuropePMC Articles | Clinical Trials

serpentine fibula-polycystic kidney syndrome
PubMed Articles | EuropePMC Articles | Clinical Trials

hand-foot-genital syndrome
PubMed Articles | EuropePMC Articles | Clinical Trials

HFG syndrome
PubMed Articles | EuropePMC Articles | Clinical Trials

HFGS
PubMed Articles | EuropePMC Articles | Clinical Trials

HFU syndrome
PubMed Articles | EuropePMC Articles | Clinical Trials

Hand-foot-uterus syndrome
PubMed Articles | EuropePMC Articles | Clinical Trials

harlequin ichthyosis
PubMed Articles | EuropePMC Articles | Clinical Trials

HI
PubMed Articles | EuropePMC Articles | Clinical Trials

Harlequin baby syndrome
PubMed Articles | EuropePMC Articles | Clinical Trials

Ichthyosis Congenita, Harlequin Fetus Type
PubMed Articles | EuropePMC Articles | Clinical Trials

Hashimoto thyroiditis
PubMed Articles | EuropePMC Articles | Clinical Trials

Hashimoto disease
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Hashimoto struma
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Hashimoto syndrome
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Hashimoto's disease
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autoimmune chronic lymphocytic thyroiditis
PubMed Articles | EuropePMC Articles | Clinical Trials

autoimmune thyroiditis
PubMed Articles | EuropePMC Articles | Clinical Trials

chronic lymphocytic thyroiditides
PubMed Articles | EuropePMC Articles | Clinical Trials

chronic lymphocytic thyroiditis
PubMed Articles | EuropePMC Articles | Clinical Trials

lymphocytic thyroiditis
PubMed Articles | EuropePMC Articles | Clinical Trials

head and neck squamous cell carcinoma
PubMed Articles | EuropePMC Articles | Clinical Trials

HNSCC
PubMed Articles | EuropePMC Articles | Clinical Trials

SCCHN
PubMed Articles | EuropePMC Articles | Clinical Trials

squamous cell carcinoma of the head and neck
PubMed Articles | EuropePMC Articles | Clinical Trials

hemophilia
PubMed Articles | EuropePMC Articles | Clinical Trials

Hemophilia, familial
PubMed Articles | EuropePMC Articles | Clinical Trials

Hemophilia, hereditary
PubMed Articles | EuropePMC Articles | Clinical Trials

Hennekam syndrome
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Hennekam lymphangiectasia-lymphedema syndrome
PubMed Articles | EuropePMC Articles | Clinical Trials

generalized lymphatic dysplasia
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intestinal lymphagiectasia-lymphedema-mental retardation syndrome
PubMed Articles | EuropePMC Articles | Clinical Trials

lymphedema-lymphangiectasia-intellectual disability syndrome
PubMed Articles | EuropePMC Articles | Clinical Trials

hepatic lipase deficiency
PubMed Articles | EuropePMC Articles | Clinical Trials

HL deficiency
PubMed Articles | EuropePMC Articles | Clinical Trials

LIPC deficiency
PubMed Articles | EuropePMC Articles | Clinical Trials

hyperlipidemia due to hepatic triglyceride lipase deficiency
PubMed Articles | EuropePMC Articles | Clinical Trials

hepatic veno-occlusive disease with immunodeficiency
PubMed Articles | EuropePMC Articles | Clinical Trials

VODI
PubMed Articles | EuropePMC Articles | Clinical Trials

familial veno-occlusive disease with immunodeficiency
PubMed Articles | EuropePMC Articles | Clinical Trials

hepatic venoocclusive disease with immunodeficiency
PubMed Articles | EuropePMC Articles | Clinical Trials

veno-occlusive disease and immunodeficiency syndrome
PubMed Articles | EuropePMC Articles | Clinical Trials

hereditary angioedema
PubMed Articles | EuropePMC Articles | Clinical Trials

C1 esterase inhibitor deficiency
PubMed Articles | EuropePMC Articles | Clinical Trials

C1 inhibitor deficiency
PubMed Articles | EuropePMC Articles | Clinical Trials

HAE
PubMed Articles | EuropePMC Articles | Clinical Trials

HANE
PubMed Articles | EuropePMC Articles | Clinical Trials

hereditary angioneurotic edema
PubMed Articles | EuropePMC Articles | Clinical Trials

hereditary angiopathy with nephropathy, aneurysms, and muscle cramps syndrome
PubMed Articles | EuropePMC Articles | Clinical Trials

HANAC
PubMed Articles | EuropePMC Articles | Clinical Trials

HANAC syndrome
PubMed Articles | EuropePMC Articles | Clinical Trials

autosomal dominant familial hematuria, retinal arteriolar tortuosity, contractures
PubMed Articles | EuropePMC Articles | Clinical Trials

hereditary angiopathy with nephropathy, aneurysm, and muscle cramps syndrome
PubMed Articles | EuropePMC Articles | Clinical Trials

hereditary antithrombin deficiency
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Antithrombin III Deficiency
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Congenital Antithrombin III Deficiency
PubMed Articles | EuropePMC Articles | Clinical Trials

hereditary cerebral amyloid angiopathy
PubMed Articles | EuropePMC Articles | Clinical Trials

CAA
PubMed Articles | EuropePMC Articles | Clinical Trials

HCHWA
PubMed Articles | EuropePMC Articles | Clinical Trials

autosomal dominant cerebrovascular amyloidosis
PubMed Articles | EuropePMC Articles | Clinical Trials

cerebral amyloid angiopathy, familial
PubMed Articles | EuropePMC Articles | Clinical Trials

cerebral amyloid angiopathy, genetic
PubMed Articles | EuropePMC Articles | Clinical Trials

hereditary diffuse gastric cancer
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E-cadherin-associated hereditary gastric cancer
PubMed Articles | EuropePMC Articles | Clinical Trials

FDGC
PubMed Articles | EuropePMC Articles | Clinical Trials

HDGC
PubMed Articles | EuropePMC Articles | Clinical Trials

familial diffuse gastric cancer
PubMed Articles | EuropePMC Articles | Clinical Trials

hereditary diffuse gastric adenocarcinoma
PubMed Articles | EuropePMC Articles | Clinical Trials

hereditary folate malabsorption
PubMed Articles | EuropePMC Articles | Clinical Trials

Congenital folate malabsorption
PubMed Articles | EuropePMC Articles | Clinical Trials

Folic acid transport defect
PubMed Articles | EuropePMC Articles | Clinical Trials

congenital defect of folate absorption
PubMed Articles | EuropePMC Articles | Clinical Trials

hereditary fructose intolerance
PubMed Articles | EuropePMC Articles | Clinical Trials

ALDOB deficiency
PubMed Articles | EuropePMC Articles | Clinical Trials

aldolase B deficiency
PubMed Articles | EuropePMC Articles | Clinical Trials

fructose aldolase B deficiency
PubMed Articles | EuropePMC Articles | Clinical Trials

fructose intolerance
PubMed Articles | EuropePMC Articles | Clinical Trials

fructose-1,6-biphosphate aldolase deficiency
PubMed Articles | EuropePMC Articles | Clinical Trials

fructose-1-phosphate aldolase deficiency
PubMed Articles | EuropePMC Articles | Clinical Trials

fructosemia
PubMed Articles | EuropePMC Articles | Clinical Trials

hereditary hemochromatosis
PubMed Articles | EuropePMC Articles | Clinical Trials

HC
PubMed Articles | EuropePMC Articles | Clinical Trials

HH
PubMed Articles | EuropePMC Articles | Clinical Trials

HLAH
PubMed Articles | EuropePMC Articles | Clinical Trials

Troisier-Hanot-Chauffard syndrome
PubMed Articles | EuropePMC Articles | Clinical Trials

Von Recklenhausen-Applebaum disease
PubMed Articles | EuropePMC Articles | Clinical Trials

bronze diabetes
PubMed Articles | EuropePMC Articles | Clinical Trials

bronzed cirrhosis
PubMed Articles | EuropePMC Articles | Clinical Trials

familial hemochromatosis
PubMed Articles | EuropePMC Articles | Clinical Trials

genetic hemochromatosis
PubMed Articles | EuropePMC Articles | Clinical Trials

haemochromatosis
PubMed Articles | EuropePMC Articles | Clinical Trials

hemochromatosis
PubMed Articles | EuropePMC Articles | Clinical Trials

hereditary haemochromatosis
PubMed Articles | EuropePMC Articles | Clinical Trials

iron storage disorder
PubMed Articles | EuropePMC Articles | Clinical Trials

pigmentary cirrhosis
PubMed Articles | EuropePMC Articles | Clinical Trials

primary hemochromatosis
PubMed Articles | EuropePMC Articles | Clinical Trials

hereditary hemorrhagic telangiectasia
PubMed Articles | EuropePMC Articles | Clinical Trials

HHT
PubMed Articles | EuropePMC Articles | Clinical Trials

Osler hemorrhagic telangiectasia syndrome
PubMed Articles | EuropePMC Articles | Clinical Trials

Osler's disease
PubMed Articles | EuropePMC Articles | Clinical Trials

Osler-Rendu Disease
PubMed Articles | EuropePMC Articles | Clinical Trials

Osler-Rendu-Weber disease
PubMed Articles | EuropePMC Articles | Clinical Trials

Rendu-Osler-Weber
PubMed Articles | EuropePMC Articles | Clinical Trials

Weber-Osler
PubMed Articles | EuropePMC Articles | Clinical Trials

hereditary hyperekplexia
PubMed Articles | EuropePMC Articles | Clinical Trials

STHE
PubMed Articles | EuropePMC Articles | Clinical Trials

congenital stiff-man syndrome
PubMed Articles | EuropePMC Articles | Clinical Trials

congenital stiff-person syndrome
PubMed Articles | EuropePMC Articles | Clinical Trials

familial hyperekplexia
PubMed Articles | EuropePMC Articles | Clinical Trials

hyperekplexia
PubMed Articles | EuropePMC Articles | Clinical Trials

startle syndrome
PubMed Articles | EuropePMC Articles | Clinical Trials

stiff-baby syndrome
PubMed Articles | EuropePMC Articles | Clinical Trials

hereditary hypophosphatemic rickets
PubMed Articles | EuropePMC Articles | Clinical Trials

VDRR
PubMed Articles | EuropePMC Articles | Clinical Trials

hypophosphatemia
PubMed Articles | EuropePMC Articles | Clinical Trials

vitamin D-resistant rickets
PubMed Articles | EuropePMC Articles | Clinical Trials

hereditary leiomyomatosis and renal cell cancer
PubMed Articles | EuropePMC Articles | Clinical Trials

HLRCC
PubMed Articles | EuropePMC Articles | Clinical Trials

LRCC
PubMed Articles | EuropePMC Articles | Clinical Trials

MCL
PubMed Articles | EuropePMC Articles | Clinical Trials

MCUL
PubMed Articles | EuropePMC Articles | Clinical Trials

Reed's syndrome
PubMed Articles | EuropePMC Articles | Clinical Trials

hereditary leiomyomatosis and renal cell carcinoma
PubMed Articles | EuropePMC Articles | Clinical Trials

leiomyomatosis and renal cell cancer
PubMed Articles | EuropePMC Articles | Clinical Trials

multiple cutaneous and uterine leiomyomata
PubMed Articles | EuropePMC Articles | Clinical Trials

multiple cutaneous leiomyoma
PubMed Articles | EuropePMC Articles | Clinical Trials

hereditary multiple exostoses
PubMed Articles | EuropePMC Articles | Clinical Trials

Bessel-Hagen disease
PubMed Articles | EuropePMC Articles | Clinical Trials

diaphyseal aclasis
PubMed Articles | EuropePMC Articles | Clinical Trials

exostoses, multiple hereditary
PubMed Articles | EuropePMC Articles | Clinical Trials

familial exostoses
PubMed Articles | EuropePMC Articles | Clinical Trials

multiple cartilaginous exostoses
PubMed Articles | EuropePMC Articles | Clinical Trials

multiple congenital exostosis
PubMed Articles | EuropePMC Articles | Clinical Trials

multiple hereditary exostoses
PubMed Articles | EuropePMC Articles | Clinical Trials

multiple osteochondromas
PubMed Articles | EuropePMC Articles | Clinical Trials

multiple osteochondromatosis
PubMed Articles | EuropePMC Articles | Clinical Trials

hereditary myopathy with early respiratory failure
PubMed Articles | EuropePMC Articles | Clinical Trials

Edstrom myopathy
PubMed Articles | EuropePMC Articles | Clinical Trials

HMERF
PubMed Articles | EuropePMC Articles | Clinical Trials

MPRM
PubMed Articles | EuropePMC Articles | Clinical Trials

myopathy, proximal, with early respiratory muscle involvement
PubMed Articles | EuropePMC Articles | Clinical Trials

hereditary neuralgic amyotrophy
PubMed Articles | EuropePMC Articles | Clinical Trials

Amyotrophic Neuralgia
PubMed Articles | EuropePMC Articles | Clinical Trials

Brachial Neuralgia
PubMed Articles | EuropePMC Articles | Clinical Trials

Brachial Neuritis
PubMed Articles | EuropePMC Articles | Clinical Trials

Brachial Plexus Neuritis
PubMed Articles | EuropePMC Articles | Clinical Trials

HNA
PubMed Articles | EuropePMC Articles | Clinical Trials

NAPB
PubMed Articles | EuropePMC Articles | Clinical Trials

Neuralgic Amyotrophy
PubMed Articles | EuropePMC Articles | Clinical Trials

Shoulder Girdle Neuropathy
PubMed Articles | EuropePMC Articles | Clinical Trials

familial brachial plexus neuritis
PubMed Articles | EuropePMC Articles | Clinical Trials

hereditary brachial plexus neuropathy
PubMed Articles | EuropePMC Articles | Clinical Trials

heredofamilial neuritis with brachial plexus predilection
PubMed Articles | EuropePMC Articles | Clinical Trials

neuritis with brachial predilection
PubMed Articles | EuropePMC Articles | Clinical Trials

hereditary neuropathy with liability to pressure palsies
PubMed Articles | EuropePMC Articles | Clinical Trials

HNPP
PubMed Articles | EuropePMC Articles | Clinical Trials

compression neuropathy
PubMed Articles | EuropePMC Articles | Clinical Trials

entrapment neuropathy
PubMed Articles | EuropePMC Articles | Clinical Trials

familial pressure sensitive neuropathy
PubMed Articles | EuropePMC Articles | Clinical Trials

hereditary motor and sensory neuropathy
PubMed Articles | EuropePMC Articles | Clinical Trials

hereditary pressure sensitive neuropathy
PubMed Articles | EuropePMC Articles | Clinical Trials

inherited tendency to pressure palsies
PubMed Articles | EuropePMC Articles | Clinical Trials

tomaculous neuropathy
PubMed Articles | EuropePMC Articles | Clinical Trials

hereditary pancreatitis
PubMed Articles | EuropePMC Articles | Clinical Trials

HP
PubMed Articles | EuropePMC Articles | Clinical Trials

autosomal dominant hereditary pancreatitis
PubMed Articles | EuropePMC Articles | Clinical Trials

familial pancreatitis
PubMed Articles | EuropePMC Articles | Clinical Trials

hereditary chronic pancreatitis
PubMed Articles | EuropePMC Articles | Clinical Trials

hereditary paraganglioma-pheochromocytoma
PubMed Articles | EuropePMC Articles | Clinical Trials

familial paraganglioma-pheochromocytoma syndromes
PubMed Articles | EuropePMC Articles | Clinical Trials

hereditary paraganglioma-pheochromocytoma syndromes
PubMed Articles | EuropePMC Articles | Clinical Trials

hereditary pheochromocytoma-paraganglioma
PubMed Articles | EuropePMC Articles | Clinical Trials

paragangliomas 1
PubMed Articles | EuropePMC Articles | Clinical Trials

paragangliomas 2
PubMed Articles | EuropePMC Articles | Clinical Trials

paragangliomas 3
PubMed Articles | EuropePMC Articles | Clinical Trials

paragangliomas 4
PubMed Articles | EuropePMC Articles | Clinical Trials

hereditary sensory and autonomic neuropathy type IE
PubMed Articles | EuropePMC Articles | Clinical Trials

DNMT1-related dementia, deafness, and sensory neuropathy
PubMed Articles | EuropePMC Articles | Clinical Trials

HSN IE
PubMed Articles | EuropePMC Articles | Clinical Trials

HSNIE
PubMed Articles | EuropePMC Articles | Clinical Trials

hereditary sensory and autonomic neuropathy type 1 with dementia and hearing loss
PubMed Articles | EuropePMC Articles | Clinical Trials

hereditary sensory neuropathy type IE
PubMed Articles | EuropePMC Articles | Clinical Trials

hereditary sensory and autonomic neuropathy type II
PubMed Articles | EuropePMC Articles | Clinical Trials

HSAN type II
PubMed Articles | EuropePMC Articles | Clinical Trials

HSAN2
PubMed Articles | EuropePMC Articles | Clinical Trials

HSAN2A
PubMed Articles | EuropePMC Articles | Clinical Trials

HSAN2B
PubMed Articles | EuropePMC Articles | Clinical Trials

HSANII
PubMed Articles | EuropePMC Articles | Clinical Trials

HSN type II
PubMed Articles | EuropePMC Articles | Clinical Trials

Morvan disease
PubMed Articles | EuropePMC Articles | Clinical Trials

congenital sensory neuropathy
PubMed Articles | EuropePMC Articles | Clinical Trials

hereditary sensory and autonomic neuropathy type 2
PubMed Articles | EuropePMC Articles | Clinical Trials

hereditary sensory and autonomic neuropathy type V
PubMed Articles | EuropePMC Articles | Clinical Trials

HSAN V
PubMed Articles | EuropePMC Articles | Clinical Trials

HSAN type V
PubMed Articles | EuropePMC Articles | Clinical Trials

HSAN5
PubMed Articles | EuropePMC Articles | Clinical Trials

congenital insensitivity to pain
PubMed Articles | EuropePMC Articles | Clinical Trials

congenital sensory neuropathy with selective loss of small myelinated fibers
PubMed Articles | EuropePMC Articles | Clinical Trials

hereditary sensory and autonomic neuropathy, type 5
PubMed Articles | EuropePMC Articles | Clinical Trials

hereditary sensory neuropathy type IA
PubMed Articles | EuropePMC Articles | Clinical Trials

HSAN IA
PubMed Articles | EuropePMC Articles | Clinical Trials

HSAN1A
PubMed Articles | EuropePMC Articles | Clinical Trials

HSN IA
PubMed Articles | EuropePMC Articles | Clinical Trials

HSN1A
PubMed Articles | EuropePMC Articles | Clinical Trials

autosomal dominant hereditary sensory radicular neuropathy, type 1A
PubMed Articles | EuropePMC Articles | Clinical Trials

hereditary sensory and autonomic neuropathy, type IA
PubMed Articles | EuropePMC Articles | Clinical Trials

hereditary spherocytosis
PubMed Articles | EuropePMC Articles | Clinical Trials

HS
PubMed Articles | EuropePMC Articles | Clinical Trials

congenital spherocytic hemolytic anemia
PubMed Articles | EuropePMC Articles | Clinical Trials

congenital spherocytosis
PubMed Articles | EuropePMC Articles | Clinical Trials

spherocytic anemia
PubMed Articles | EuropePMC Articles | Clinical Trials

spherocytosis, type 1
PubMed Articles | EuropePMC Articles | Clinical Trials

hereditary xanthinuria
PubMed Articles | EuropePMC Articles | Clinical Trials

XDH deficiency
PubMed Articles | EuropePMC Articles | Clinical Trials

combined deficiency of xanthine dehydrogenase and aldehyde oxidase
PubMed Articles | EuropePMC Articles | Clinical Trials

xanthine dehydrogenase deficiency
PubMed Articles | EuropePMC Articles | Clinical Trials

xanthine oxidase deficiency
PubMed Articles | EuropePMC Articles | Clinical Trials

xanthinuria
PubMed Articles | EuropePMC Articles | Clinical Trials

Hermansky-Pudlak syndrome
PubMed Articles | EuropePMC Articles | Clinical Trials

HPS
PubMed Articles | EuropePMC Articles | Clinical Trials

heterotaxy syndrome
PubMed Articles | EuropePMC Articles | Clinical Trials

HTX
PubMed Articles | EuropePMC Articles | Clinical Trials

Ivemark syndrome
PubMed Articles | EuropePMC Articles | Clinical Trials

heterotaxy
PubMed Articles | EuropePMC Articles | Clinical Trials

left isomerism
PubMed Articles | EuropePMC Articles | Clinical Trials

right isomerism
PubMed Articles | EuropePMC Articles | Clinical Trials

situs ambiguus
PubMed Articles | EuropePMC Articles | Clinical Trials

situs ambiguus viscerum
PubMed Articles | EuropePMC Articles | Clinical Trials

visceral heterotaxy
PubMed Articles | EuropePMC Articles | Clinical Trials

hidradenitis suppurativa
PubMed Articles | EuropePMC Articles | Clinical Trials

acne inversa
PubMed Articles | EuropePMC Articles | Clinical Trials

hidradenitides, suppurative
PubMed Articles | EuropePMC Articles | Clinical Trials

hidradenitis, suppurative
PubMed Articles | EuropePMC Articles | Clinical Trials

suppurative hidradenitides
PubMed Articles | EuropePMC Articles | Clinical Trials

suppurative hidradenitis
PubMed Articles | EuropePMC Articles | Clinical Trials

Hirschsprung disease
PubMed Articles | EuropePMC Articles | Clinical Trials

HSCR
PubMed Articles | EuropePMC Articles | Clinical Trials

Hirschsprung's disease
PubMed Articles | EuropePMC Articles | Clinical Trials

aganglionic megacolon
PubMed Articles | EuropePMC Articles | Clinical Trials

congenital intestinal aganglionosis
PubMed Articles | EuropePMC Articles | Clinical Trials

congenital megacolon
PubMed Articles | EuropePMC Articles | Clinical Trials

histidinemia
PubMed Articles | EuropePMC Articles | Clinical Trials

HAL deficiency
PubMed Articles | EuropePMC Articles | Clinical Trials

HIS deficiency
PubMed Articles | EuropePMC Articles | Clinical Trials

histidase deficiency
PubMed Articles | EuropePMC Articles | Clinical Trials

histidine ammonia-lyase deficiency
PubMed Articles | EuropePMC Articles | Clinical Trials

hyperhistidinemia
PubMed Articles | EuropePMC Articles | Clinical Trials

histiocytosis-lymphadenopathy plus syndrome
PubMed Articles | EuropePMC Articles | Clinical Trials

SLC29A3 disorder
PubMed Articles | EuropePMC Articles | Clinical Trials

SLC29A3 spectrum disorder
PubMed Articles | EuropePMC Articles | Clinical Trials

holocarboxylase synthetase deficiency
PubMed Articles | EuropePMC Articles | Clinical Trials

Early-Onset Biotin-Responsive Multiple Carboxylase Deficiency
PubMed Articles | EuropePMC Articles | Clinical Trials

Early-Onset Combined Carboxylase Deficiency
PubMed Articles | EuropePMC Articles | Clinical Trials

HLCS deficiency
PubMed Articles | EuropePMC Articles | Clinical Trials

Infantile Multiple Carboxylase Deficiency
PubMed Articles | EuropePMC Articles | Clinical Trials

Multiple Carboxylase Deficiency, Neonatal Form
PubMed Articles | EuropePMC Articles | Clinical Trials

Holt-Oram syndrome
PubMed Articles | EuropePMC Articles | Clinical Trials

HOS
PubMed Articles | EuropePMC Articles | Clinical Trials

atrio-digital syndrome
PubMed Articles | EuropePMC Articles | Clinical Trials

atriodigital dysplasia
PubMed Articles | EuropePMC Articles | Clinical Trials

cardiac-limb syndrome
PubMed Articles | EuropePMC Articles | Clinical Trials

heart-hand syndrome, type 1
PubMed Articles | EuropePMC Articles | Clinical Trials

ventriculo-radial syndrome
PubMed Articles | EuropePMC Articles | Clinical Trials

homocystinuria
PubMed Articles | EuropePMC Articles | Clinical Trials

cystathionine beta synthase deficiency
PubMed Articles | EuropePMC Articles | Clinical Trials

homocysteinemia
PubMed Articles | EuropePMC Articles | Clinical Trials

horizontal gaze palsy with progressive scoliosis
PubMed Articles | EuropePMC Articles | Clinical Trials

HGPPS
PubMed Articles | EuropePMC Articles | Clinical Trials

familial horizontal gaze palsy with progressive scoliosis
PubMed Articles | EuropePMC Articles | Clinical Trials

familial idiopathic scoliosis associated with congenital encephalopathy
PubMed Articles | EuropePMC Articles | Clinical Trials

familial infantile scoliosis associated with bilateral paralysis of conjugate gaze
PubMed Articles | EuropePMC Articles | Clinical Trials

gaze palsy, familial horizontal, with progressive scoliosis
PubMed Articles | EuropePMC Articles | Clinical Trials

ophthalmoplegia, progressive external, and scoliosis
PubMed Articles | EuropePMC Articles | Clinical Trials

Horner syndrome
PubMed Articles | EuropePMC Articles | Clinical Trials

Bernard-Horner syndrome
PubMed Articles | EuropePMC Articles | Clinical Trials

Horner's syndrome
PubMed Articles | EuropePMC Articles | Clinical Trials

oculosympathetic palsy
PubMed Articles | EuropePMC Articles | Clinical Trials

von Passow syndrome
PubMed Articles | EuropePMC Articles | Clinical Trials

Huntington disease
PubMed Articles | EuropePMC Articles | Clinical Trials

Huntington chorea
PubMed Articles | EuropePMC Articles | Clinical Trials

Huntington chronic progressive hereditary chorea
PubMed Articles | EuropePMC Articles | Clinical Trials

Huntington's chorea
PubMed Articles | EuropePMC Articles | Clinical Trials

Huntington's disease
PubMed Articles | EuropePMC Articles | Clinical Trials

Huntington disease-like syndrome
PubMed Articles | EuropePMC Articles | Clinical Trials

Huntington disease-like syndromes
PubMed Articles | EuropePMC Articles | Clinical Trials

Huntington's disease phenocopies
PubMed Articles | EuropePMC Articles | Clinical Trials

Huntington's disease phenocopy syndromes
PubMed Articles | EuropePMC Articles | Clinical Trials

Huntington's disease-like syndromes
PubMed Articles | EuropePMC Articles | Clinical Trials

Hutchinson-Gilford progeria syndrome
PubMed Articles | EuropePMC Articles | Clinical Trials

HGPS
PubMed Articles | EuropePMC Articles | Clinical Trials

Hutchinson-Gilford Syndrome
PubMed Articles | EuropePMC Articles | Clinical Trials

Progeria
PubMed Articles | EuropePMC Articles | Clinical Trials

Progeria of childhood
PubMed Articles | EuropePMC Articles | Clinical Trials

hypercholesterolemia
PubMed Articles | EuropePMC Articles | Clinical Trials

Elevated cholesterol
PubMed Articles | EuropePMC Articles | Clinical Trials

hyperferritinemia-cataract syndrome
PubMed Articles | EuropePMC Articles | Clinical Trials

Bonneau-Beaumont syndrome
PubMed Articles | EuropePMC Articles | Clinical Trials

HHCS
PubMed Articles | EuropePMC Articles | Clinical Trials

hereditary hyperferritinemia with congenital cataracts
PubMed Articles | EuropePMC Articles | Clinical Trials

hereditary hyperferritinemia-cataract syndrome
PubMed Articles | EuropePMC Articles | Clinical Trials

hyperkalemic periodic paralysis
PubMed Articles | EuropePMC Articles | Clinical Trials

Gamstorp disease
PubMed Articles | EuropePMC Articles | Clinical Trials

Gamstorp episodic adynamy
PubMed Articles | EuropePMC Articles | Clinical Trials

adynamia episodica hereditaria
PubMed Articles | EuropePMC Articles | Clinical Trials

familial hyperkalemic periodic paralysis
PubMed Articles | EuropePMC Articles | Clinical Trials

hyperKPP
PubMed Articles | EuropePMC Articles | Clinical Trials

hyperPP
PubMed Articles | EuropePMC Articles | Clinical Trials

primary hyperkalemic periodic paralysis
PubMed Articles | EuropePMC Articles | Clinical Trials

hyperlysinemia
PubMed Articles | EuropePMC Articles | Clinical Trials

alpha-aminoadipic semialdehyde deficiency disease
PubMed Articles | EuropePMC Articles | Clinical Trials

familial hyperlysinemia
PubMed Articles | EuropePMC Articles | Clinical Trials

lysine alpha-ketoglutarate reductase deficiency disease
PubMed Articles | EuropePMC Articles | Clinical Trials

saccharopine dehydrogenase deficiency disease
PubMed Articles | EuropePMC Articles | Clinical Trials

saccharopinuria
PubMed Articles | EuropePMC Articles | Clinical Trials

hypermanganesemia with dystonia, polycythemia, and cirrhosis
PubMed Articles | EuropePMC Articles | Clinical Trials

HMDPC
PubMed Articles | EuropePMC Articles | Clinical Trials

dystonia/parkinsonism, hypermanganesemia, polycythemia, and chronic liver disease
PubMed Articles | EuropePMC Articles | Clinical Trials

hepatic cirrhosis, dystonia, polycythaemia, and hypermanganesaemia
PubMed Articles | EuropePMC Articles | Clinical Trials

hepatic cirrhosis, dystonia, polycythemia, and hypermanganesemia
PubMed Articles | EuropePMC Articles | Clinical Trials

parkinsonism and dystonia with hypermanganesemia, polycythemia, and chronic liver disease
PubMed Articles | EuropePMC Articles | Clinical Trials

hypermethioninemia
PubMed Articles | EuropePMC Articles | Clinical Trials

Deficiency of methionine adenosyltransferase
PubMed Articles | EuropePMC Articles | Clinical Trials

GNMT deficiency
PubMed Articles | EuropePMC Articles | Clinical Trials

Hepatic methionine adenosyltransferase deficiency
PubMed Articles | EuropePMC Articles | Clinical Trials

MAT deficiency
PubMed Articles | EuropePMC Articles | Clinical Trials

MET
PubMed Articles | EuropePMC Articles | Clinical Trials

S-adenosylhomocysteine hydrolase deficiency
PubMed Articles | EuropePMC Articles | Clinical Trials

glycine N-methyltransferase deficiency
PubMed Articles | EuropePMC Articles | Clinical Trials

methionine adenosyltransferase deficiency
PubMed Articles | EuropePMC Articles | Clinical Trials

methioninemia
PubMed Articles | EuropePMC Articles | Clinical Trials

hyperparathyroidism-jaw tumor syndrome
PubMed Articles | EuropePMC Articles | Clinical Trials

HPT-JT
PubMed Articles | EuropePMC Articles | Clinical Trials

familial cystic parathyroid adenomatosis
PubMed Articles | EuropePMC Articles | Clinical Trials

familial primary hyperparathyroidism with multiple ossifying jaw fibromas
PubMed Articles | EuropePMC Articles | Clinical Trials

hereditary hyperparathyroidism-jaw tumor syndrome
PubMed Articles | EuropePMC Articles | Clinical Trials

hyperparathyroidism 2
PubMed Articles | EuropePMC Articles | Clinical Trials

hyperphosphatemic familial tumoral calcinosis
PubMed Articles | EuropePMC Articles | Clinical Trials

HFTC
PubMed Articles | EuropePMC Articles | Clinical Trials

hyperphosphatemia hyperostosis
PubMed Articles | EuropePMC Articles | Clinical Trials

hyperphosphatemia hyperostosis syndrome
PubMed Articles | EuropePMC Articles | Clinical Trials

hyperphosphatemia tumoral calcinosis
PubMed Articles | EuropePMC Articles | Clinical Trials

primary hyperphosphatemic tumoral calcinosis
PubMed Articles | EuropePMC Articles | Clinical Trials

hyperprolinemia
PubMed Articles | EuropePMC Articles | Clinical Trials

proline oxidase deficiency
PubMed Articles | EuropePMC Articles | Clinical Trials

prolinemia
PubMed Articles | EuropePMC Articles | Clinical Trials

pyrroline carboxylate dehydrogenase deficiency
PubMed Articles | EuropePMC Articles | Clinical Trials

pyrroline-5-carboxylate dehydrogenase deficiency
PubMed Articles | EuropePMC Articles | Clinical Trials

hypochondrogenesis
PubMed Articles | EuropePMC Articles | Clinical Trials

achondrogenesis type II/hypochondrogenesis
PubMed Articles | EuropePMC Articles | Clinical Trials

hypochondroplasia
PubMed Articles | EuropePMC Articles | Clinical Trials

HCH
PubMed Articles | EuropePMC Articles | Clinical Trials

Hypochondrodysplasia
PubMed Articles | EuropePMC Articles | Clinical Trials

hypochromic microcytic anemia with iron overload
PubMed Articles | EuropePMC Articles | Clinical Trials

microcytic anemia and hepatic iron overload
PubMed Articles | EuropePMC Articles | Clinical Trials

microcytic anemia with liver iron overload
PubMed Articles | EuropePMC Articles | Clinical Trials

hypohidrotic ectodermal dysplasia
PubMed Articles | EuropePMC Articles | Clinical Trials

Anhidrotic Ectodermal Dysplasia
PubMed Articles | EuropePMC Articles | Clinical Trials

CST syndrome
PubMed Articles | EuropePMC Articles | Clinical Trials

Christ-Siemens-Touraine Syndrome
PubMed Articles | EuropePMC Articles | Clinical Trials

HED
PubMed Articles | EuropePMC Articles | Clinical Trials

hypokalemic periodic paralysis
PubMed Articles | EuropePMC Articles | Clinical Trials

Familial Hypokalemic Periodic Paralysis
PubMed Articles | EuropePMC Articles | Clinical Trials

HOKPP
PubMed Articles | EuropePMC Articles | Clinical Trials

HypoKPP
PubMed Articles | EuropePMC Articles | Clinical Trials

HypoPP
PubMed Articles | EuropePMC Articles | Clinical Trials

Primary Hypokalemic Periodic Paralysis
PubMed Articles | EuropePMC Articles | Clinical Trials

Westphall disease
PubMed Articles | EuropePMC Articles | Clinical Trials

hypomagnesemia with secondary hypocalcemia
PubMed Articles | EuropePMC Articles | Clinical Trials

HOMG
PubMed Articles | EuropePMC Articles | Clinical Trials

HSH
PubMed Articles | EuropePMC Articles | Clinical Trials

familial primary hypomagnesemia with hypocalcuria
PubMed Articles | EuropePMC Articles | Clinical Trials

hypomagnesemic tetany
PubMed Articles | EuropePMC Articles | Clinical Trials

intestinal hypomagnesemia 1
PubMed Articles | EuropePMC Articles | Clinical Trials

intestinal hypomagnesemia with secondary hypocalcemia
PubMed Articles | EuropePMC Articles | Clinical Trials

hypomyelination and congenital cataract
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HCC
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hypophosphatasia
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Deficiency of alkaline phosphatase
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Phosphoethanolaminuria
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hystrix-like ichthyosis with deafness
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HID syndrome
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ichthyosis, hystrix-like, with deafness
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ichthyosis with confetti
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CRIE
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IWC
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congenital reticular ichthyosiform erythroderma
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ichthyosis variegata
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idiopathic inflammatory myopathy
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idiopathic inflammatory myopathies
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idiopathic inflammatory myositis
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inflammatory myopathy, idiopathic
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idiopathic pulmonary fibrosis
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IPF
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cryptogenic fibrosing alveolitis
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idiopathic fibrosing alveolitis, chronic form
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usual interstitial pneumonia
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Imerslund-Gräsbeck syndrome
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Imerslund-Grasbeck syndrome
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defect of enterocyte intrinsic factor receptor
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enterocyte cobalamin malabsorption
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juvenile pernicious anemia with proteinuria due to selective intestinal malabsorption of vitamin B12
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megaloblastic anemia 1
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immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome
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IPEX syndrome
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insulin-dependent diabetes mellitus secretory diarrhea syndrome
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inclusion body myopathy 2
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DMRV
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Distal myopathy with rimmed vacuoles
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HIBM
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Hereditary inclusion body myopathy
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IBM2
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Inclusion body myopathy, autosomal recessive
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Inclusion body myopathy, quadriceps-sparing
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Nonaka myopathy
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QSM
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Rimmed vacuole myopathy
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inclusion body myopathy with early-onset Paget disease and frontotemporal dementia
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IBMPFD
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Inclusion body myopathy with Paget disease of bone and/or frontotemporal dementia
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Inclusion body myopathy with early-onset Paget disease of bone and/or frontotemporal dementia
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Lower motor neuron degeneration with Paget-like bone disease
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Muscular dystrophy, limb-girdle, with Paget disease of bone
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Pagetoid amyotrophic lateral sclerosis
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Pagetoid neuroskeletal syndrome
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incontinentia pigmenti
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Bloch-Siemens syndrome
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Bloch-Siemens-Sulzberger Syndrome
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Bloch-Sulzberger Syndrome
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IP
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infantile neuroaxonal dystrophy
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INAD
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NBIA, PLA2G6-related
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Seitelberger disease
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Seitelberger's disease
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neurodegeneration with brain iron accumulation, PLA2G6-related
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infantile neuronal ceroid lipofuscinosis
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CLN1
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Santavuori-Haltia disease
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infantile Batten disease
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neuronal ceroid lipofuscinosis 1
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neuronal ceroid lipofuscinosis, infantile
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infantile-onset ascending hereditary spastic paralysis
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IAHSP
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spastic paralysis, infantile onset ascending
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infantile-onset spinocerebellar ataxia
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IOSCA
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Ohaha syndrome
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ophthalmoplegia, hypotonia, ataxia, hypacusis, and athetosis
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infantile systemic hyalinosis
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inherited systemic hyalinosis
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inherited thyroxine-binding globulin deficiency
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TBG deficiency
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intestinal pseudo-obstruction
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CIIP
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IPO
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chronic idiopathic intestinal pseudo-obstruction
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congenital short bowel syndrome
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enteric neuropathy
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paralytic ileus
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pseudointestinal obstruction syndrome
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pseudoobstructive syndrome
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intrahepatic cholestasis of pregnancy
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obstetric cholestasis
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pregnancy-related cholestasis
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recurrent intrahepatic cholestasis of pregnancy
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intranuclear rod myopathy
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intranuclear nemaline rod myopathy
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nemaline myopathy with exclusively intranuclear rods
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intrauterine growth restriction, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies
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IMAGe anomaly
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IMAGe association
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IMAGe syndrome
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IRAK-4 deficiency
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IRAK4 deficiency
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interleukin-1 receptor-associated kinase 4 deficiency
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iron-refractory iron deficiency anemia
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IRIDA
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IRIDA syndrome
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anemia, hypochromic microcytic, with defect in iron metabolism
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iron-handling disorder, hereditary
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isobutyryl-CoA dehydrogenase deficiency
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IBD deficiency
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deficiency of isobutyryl-CoA dehydrogenase
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isobutyryl-coenzyme A dehydrogenase deficiency
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isodicentric chromosome 15 syndrome
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duplication/inversion 15q11
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idic(15)
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inv dup(15)
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inverted duplication 15
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isodicentric chromosome 15
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non-distal tetrasomy 15q
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isolated Duane retraction syndrome
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Duane anomaly, isolated
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Duane retraction syndrome
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Duane syndrome
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Duane's syndrome
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Stilling-Turk-Duane syndrome
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co-contractive retraction syndrome
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ocular retraction syndrome
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isolated ectopia lentis
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congenital ectopia lentis
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ectopia lentis
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lens subluxation
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subluxation of lens
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isolated growth hormone deficiency
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dwarfism, growth hormone deficiency
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dwarfism, pituitary
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growth hormone deficiency dwarfism
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isolated GH deficiency
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isolated HGH deficiency
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isolated human growth hormone deficiency
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isolated somatotropin deficiency
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isolated somatotropin deficiency disorder
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isolated hyperchlorhidrosis
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carbonic anhydrase XII deficiency
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isolated hyperCKemia
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H-CK
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elevated serum CPK
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idiopathic hyperCKemia
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idiopathic persistent elevation of serum creatine kinase
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isolated lissencephaly sequence
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ILS
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LIS1
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classical lissencephaly
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lissencephaly type 1
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lissencephaly, classic
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type 1 lissencephaly
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isolated Pierre Robin sequence
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Pierre Robin syndrome
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Pierre-Robin syndrome
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Robin sequence
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Robin syndrome
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glossoptosis, micrognathia, and cleft palate
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isovaleric acidemia
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IVA
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IVD deficiency
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Isovaleric acid-CoA dehydrogenase deficiency
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Isovaleryl-CoA dehydrogenase deficiency
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Jackson-Weiss syndrome
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JWS
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Jacobsen syndrome
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11q deletion disorder
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11q deletion syndrome
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11q terminal deletion disorder
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11q- deletion syndrome
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11q23 deletion disorder
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Jacobsen thrombocytopenia
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Jervell and Lange-Nielsen syndrome
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Cardio-auditory-syncope syndrome
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Cardioauditory syndrome of Jervell and Lange-Nielsen
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JLNS
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Jervell-Lange Nielsen Syndrome
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Surdo-cardiac syndrome
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Joubert syndrome
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CORS
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JBTS
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Joubert-Bolthauser syndrome
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agenesis of cerebellar vermis
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