Rare Disease Library

Hidrotic ectodermal dysplasia, Halal type

Halal-Setton-Wang syndrome · Trichodysplasia-abnormal dermatoglyphics-intellectual disability syndrome

Acrofacial dysostosis, Weyers type

Curry-Hall syndrome · Weyers acrodental dysostosis

Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome

AEC syndrome · Hay-Wells syndrome

Autoimmune polyendocrinopathy type 1

APECED syndrome · APS type 1

Facial dysmorphism-ocular anomalies-osteopenia-intellectual disability-dental anomalies syndrome

Hamamy syndrome

Focal facial dermal dysplasia type III

FFDD type III · FFDD3

Gingival fibromatosis-aortic root dilatation-facial dysmorphism-intellectual disability syndrome

Liang-Wang syndrome

H syndrome

Haddad syndrome

Congenital central alveolar hypoventilation-Hirschsprung disease syndrome · Ondine-Hirschsprung disease

Hall-Riggs syndrome

HANAC syndrome

Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome · Hereditary angiopathy-nephropathy-aneurysms-muscle cramps syndrome

HARP syndrome

Hypoprebetalipoproteinemia-acanthocytosis-retinitis pigmentosa-pallidal degeneration syndrome

Harrod syndrome

Cranio-facio-digito-genital syndrome

Hemidystonia-hemiatrophy syndrome

HD-HA syndrome

Hemiparkinsonism-hemiatrophy syndrome

HP-HA syndrome

Hyperinsulinism-hyperammonemia syndrome

HI/HA syndrome

Multiple synostoses syndrome

Deafness-Hermann type symphalangism syndrome · Facio-audio-symphalangism

Ocular anomalies-axonal neuropathy-developmental delay syndrome

Harel-Yoon syndrome

Primary biliary cholangitis

Hanot syndrome · Primary biliary cirrhosis

Ptosis-strabismus-ectopic pupils syndrome

McPherson-Hall syndrome

Schwartz-Jampel syndrome

Aberfeld syndrome · Burton skeletal dysplasia

Scimitar syndrome

Congenital pulmonary venolobar syndrome · Epibronchial right pulmonary vein syndrome

SERKAL syndrome

Sex reversion-kidneys, adrenal and lung dysgenesis syndrome

Sheldon-Hall syndrome

SSH · DA2B

Syndactyly-camptodactyly and clinodactyly of fifth fingers-bifid toes syndrome

Synactyly-camptodactyly and clinodactyly of fifth fingers-bifid halluces syndrome · Wahab syndrome

W syndrome

Pallister-W syndrome

Wagner disease

Dominant hyaloideoretinal dystrophy of Wagner · VCAN-related vitreoretinopathy

WAGR syndrome

Del(11)(p13) · Deletion 11p13

Walker-Warburg syndrome

HARD syndrome · Hydrocephalus-agyria-retinal dysplasia syndrome

Watson syndrome

Pulmonic stenosis with 'café-au-lait' spots

White-Sutton syndrome

Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome

Woolly hair-hypotrichosis-everted lower lip-outstanding ears syndrome

Salamon syndrome