Rare Disease Library

HSD10 disease

2-methyl-3-hydroxybutyric aciduria · 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency

HSD10 disease, atypical type

HSD10 deficiency, atypical type · Syndromic X-linked intellectual disability type 10

HSD10 disease, infantile type

2-methyl-3-hydroxybutyric aciduria, classic type · 2-methyl-3-hydroxybutyric aciduria, infantile type

HSD10 disease, neonatal type

2-methyl-3-hydroxybutyric aciduria, neonatal type · 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency, neonatal type

HSPB8-related autosomal dominant distal axonal motor neuropathy-myofibrillar myopathy syndrome

MFM13 · Myofibrillar myopathy-rimmed vacuoles type 13

Hinman syndrome

HAS · HS

Familial dysautonomia

HSAN3 · Hereditary sensory and autonomic neuropathy type 3

Hereditary sensory and autonomic neuropathy

HSAN

Hereditary sensory and autonomic neuropathy due to TECPR2 mutation

HSAN due to TECPR2 mutation · Autosomal recessive spastic paraplegia type 49

Hereditary sensory and autonomic neuropathy type 1

HSAN1 · Hereditary sensory and autonomic neuropathy type I

Hereditary sensory and autonomic neuropathy type 1B

HSAN with cough and gastroesophageal reflux · HSAN1B

Hereditary sensory and autonomic neuropathy type 2

Autosomal recessive sensory radicular neuropathy · HSAN2

Hereditary sensory and autonomic neuropathy type 4

HSAN4 · CIPA

Hereditary sensory and autonomic neuropathy type 5

Congenital insensitivity to pain and thermal analgesia · HSAN5

Hereditary sensory and autonomic neuropathy type 6

Hereditary sensory and autonomic neuropathy type VI · Familial dysautonomia with contractures

Hereditary sensory and autonomic neuropathy type 7

CIP with hyperhidrosis and gastrointestinal dysfunction · Hereditary sensory and autonomic neuropathy type VII

Hereditary sensory and autonomic neuropathy type 8

HSAN8 · Hereditary sensory and autonomic neuropathy type VIII

Hereditary sensory and autonomic neuropathy with deafness and global delay

HSAN with deafness and global delay · HSAN with hearing loss and global delay

Hereditary sensory neuropathy-deafness-dementia syndrome

HSN1E · HSAN1E

Hereditary spastic paraplegia

Familial spastic paraplegia · HSP

Herpes simplex virus encephalitis

HSE · HSVE

Hirschsprung disease

Aganglionic megacolon · Congenital intestinal aganglionosis

Hydrocephalus with stenosis of the aqueduct of Sylvius

Bickers-Adams syndrome · HSAS

Mesial temporal lobe epilepsy with hippocampal sclerosis

MTLE-HS · Hippocampal sclerosis-related mesial temporal lobe epilepsy

Primary hypomagnesemia with secondary hypocalcemia

HOMG1 · HSH

CHST3-related skeletal dysplasia

Chondrodysplasia with congenital joint dislocations, CHST3 type · SDCD, CHST3 type

Fuchs endothelial corneal dystrophy

Endoepithelial corneal dystrophy · FECD

Fuchs heterochromic iridocyclitis

FHI

Hirschsprung disease-deafness-polydactyly syndrome

Hirschsprung disease-hearing loss-polydactyly syndrome · Santos-Mateus-Leal syndrome

Hirschsprung disease-ganglioneuroblastoma syndrome

Hirschsprung disease-nail hypoplasia-dysmorphism syndrome

Al Gazali-Donnai-Muller syndrome

Hirschsprung disease-type D brachydactyly syndrome

OBSOLETE: Ectodermal dysplasia-absent dermatoglyphs syndrome

OBSOLETE: Basan syndrome

OBSOLETE: Tay-Sachs disease, B1 variant

OBSOLETE: GM2 gangliosidosis, B1 variant · OBSOLETE: Hexosaminidase A deficiency, B1 variant

Pelizaeus-Merzbacher-like disease due to HSPD1 mutation

Mitochondrial HSP60 chaperonopathy

Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease

Neurologic Waardenburg-Shah syndrome · PCWH

Pierre Robin syndrome associated with branchial archs anomalies

Pierre Robin sequence associated with branchial archs anomalies

Rare disorder with Hirschsprung disease as a major feature

Short stature due to GHSR deficiency

Ghrelin receptor deficiency · Short stature due to growth hormone secretagogue receptor deficiency

Tay-Sachs disease

Beta-hexosaminidase subunit alpha deficiency · GM2 gangliosidosis, Tay-Sachs variant

Tay-Sachs disease, adult form

GM2 gangliosidosis, Tay-Sachs variant, adult form · GM2 gangliosidosis, hexosaminidase A deficiency variant, adult form

Tay-Sachs disease, infantile form

Beta-hexosaminidase subunit alpha deficiency, infantile form · GM2 gangliosidosis, Tay-Sachs variant, infantile form

Tay-Sachs disease, juvenile form

Beta-hexosaminidase subunit alpha deficiency, juvenile form · GM2 gangliosidosis, Tay-Sachs variant, juvenile form

Waterhouse-Friderichsen syndrome