Rare Disease Library

Female restricted epilepsy with intellectual disability

Juberg-Hellman syndrome · EFMR

Acute interstitial pneumonia

Acute interstitial pneumonitis · Hamman-Rich syndrome

Androgen insensitivity syndrome

AIS · Androgen resistance syndrome

Angelman syndrome

Asherman syndrome

Autoimmune polyendocrinopathy type 1

APECED syndrome · APS type 1

Autosomal dominant hyper-IgE syndrome due to STAT3 deficiency

AD-HIES due to STAT3 deficiency · Autosomal dominant HIES due to STAT3 deficiency

Autosomal dominant intellectual disability-craniofacial dysmorphism-macrocephaly-hypotonia syndrome due to H1-4 mutation

H1-4-related neurodevelopmental disorder · Rahman syndrome

B-cell immunodeficiency-limb anomaly-urogenital malformation syndrome

BILU syndrome · Hoffman syndrome

Blue rubber bleb nevus

Bean syndrome · BRBN

Brachydactyly-elbow wrist dysplasia syndrome

Brachydactyly-joint dysplasia syndrome · Liebenberg syndrome

CHAND syndrome

Baughman syndrome · CHANDS

Childhood disintegrative disorder

Heller syndrome · Dementia infantilis

Corneal dystrophy-perceptive deafness syndrome

CDPD · Corneal dystrophy with progressive deafness

Dahlberg-Borer-Newcomer syndrome

Lymphedema-hypoparathyroidism syndrome · Dahlberg syndrome

Deafness-enamel hypoplasia-nail defects syndrome

Heimler syndrome · Hearing loss-enamel hypoplasia-nail defects syndrome

Deafness-lymphedema-leukemia syndrome

Hearing loss-lymphedema-leukemia syndrome · Emberger syndrome

Double uterus-hemivagina-renal agenesis syndrome

Double uterus and obstructed hemivagina syndrome · OHVIRA syndrome

Early-onset parkinsonism-intellectual disability syndrome

Laxova-Opitz syndrome · Waisman syndrome

Eosinophilic fasciitis

Diffuse fasciitis with eosinophilia · Shulman syndrome

Fibrodysplasia ossificans progressiva

FOP · Myositis ossificans progressiva

Galactosialidosis

Goldberg syndrome · Neuraminidase deficiency with beta-galactosidase deficiency

German syndrome

Hypotonia-arthrogryposis-facial dysmorphism-lymphedema syndrome

Gitelman syndrome

Goodman syndrome

ACPS4 · Acrocephalopolysyndactyly type 4

H syndrome

HARP syndrome

Hypoprebetalipoproteinemia-acanthocytosis-retinitis pigmentosa-pallidal degeneration syndrome

Hearing loss-familial salivary gland insensitivity to aldosterone syndrome

Tungland-Bellman syndrome

HEC syndrome

Hydrocephalus-endocardial fibroelastosis-cataract syndrome

Heiner syndrome

Cow's milk-induced pulmonary hypersensitivity syndrome

HELLP syndrome

Hemolysis, elevated liver enzymes, low platelets in pregnancy · Hemolysis-elevated liver enzymes-low platelets syndrome

Hemiconvulsion-hemiplegia-epilepsy syndrome

HHE · HHE syndrome

Hemidystonia-hemiatrophy syndrome

HD-HA syndrome

Hemiparkinsonism-hemiatrophy syndrome

HP-HA syndrome

Hennekam syndrome

Lymphedema-lymphangiectasia-intellectual disability syndrome

HERNS syndrome

Hereditary endotheliopathy-retinopathy-nephropathy-stroke syndrome

Hinman syndrome

HAS · HS

Hyperinsulinism-hyperammonemia syndrome

HI/HA syndrome

Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome

HHH syndrome · ORNT1 deficiency

Hypertelorism-microtia-facial clefting syndrome

Bixler-Christian-Gorlin syndrome · HMC syndrome

Hypoglossia-hypodactyly syndrome

Aglossia-adactylia syndrome · Hanhart syndrome

Hypohidrosis-electrolyte imbalance-lacrimal gland dysfunction-ichthyosis-xerostomia syndrome

HELIX syndrome

Hypohidrotic ectodermal dysplasia-hypothyroidism-ciliary dyskinesia syndrome

HEDH syndrome · ANOTHER syndrome

Hypoparathyroidism-sensorineural deafness-renal disease syndrome

Hypoparathyroidism-sensorineural hearing loss-renal disease syndrome · Barakat syndrome

Hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome

HOPP syndrome · Hypotrichosis-osteolysis-periodontitis-palmoplantar hyperkeratosis syndrome

Interstitial granulomatous dermatitis with arthritis

Ackerman dermatitis syndrome · IGDA

Isolated hemihyperplasia

Hemi 3 syndrome · Hemicorporal hypertrophy

Isolated Joubert syndrome

CPD IV · Cerebelloparenchymal disorder IV