Rare Disease Library

Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome

HHH syndrome · ORNT1 deficiency

Hypertelorism-microtia-facial clefting syndrome

Bixler-Christian-Gorlin syndrome · HMC syndrome

Hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome

HUPRA 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

Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome

Baker-Gordon syndrome · SYT1-related neurodevelopmental disorder

Intellectual disability-obesity-prognathism-eye and skin anomalies syndrome

MOMES syndrome

Laron syndrome

Complete growth hormone insensitivity · GH receptor deficiency

Megacystis-microcolon-intestinal hypoperistalsis syndrome

Berdon syndrome · MMIHS

Mirhosseini-Holmes-Walton syndrome

Pigmentary retinopathy-intellectual disability syndrome

Mohr-Tranebjaerg syndrome

DDON syndrome · Deafness-dystonia-optic neuronopathy syndrome

Muscular pseudohypertrophy-hypothyroidism syndrome

Kocher-Debré-Semelaigne syndrome · Hoffmann syndrome

N syndrome

NPHP3-related Meckel-like syndrome

Goldston syndrome · Meckel syndrome type 7

Odontochondrodysplasia

Chondrodysplasia-dentinogenesis imperfecta-joint laxity syndrome · Goldblatt chondrodysplasia

Palmoplantar keratoderma-spastic paralysis syndrome

Palmoplantar hyperkeratosis-spastic paralysis syndrome · Powell-Venencie-Gordon syndrome

Primary biliary cholangitis

Hanot syndrome · Primary biliary cirrhosis

Pseudohypoaldosteronism type 2

Chloride shunt syndrome · Familial hyperkalemic hypertension

Ramon syndrome

Cherubism-gingival fibromatosis-intellectual disability syndrome

Sanjad-Sakati syndrome

HRD syndrome · Hypoparathyroidism-intellectual disability-dysmorphism syndrome

Severe X-linked intellectual disability, Gustavson type

Gustavson syndrome

Sheldon-Hall syndrome

SSH · DA2B

Short tarsus-absence of lower eyelashes syndrome

Lopes-Gorlin syndrome

Sneddon syndrome

Ehrmann-Sneddon syndrome · Livedo racemosa-cerebrovascular accident syndrome

Thymoma-hypogammaglobulinemia syndrome

Good syndrome

Trismus-pseudocamptodactyly syndrome

Distal arthrogryposis type 7 · Dutch-Kentucky syndrome

W syndrome

Pallister-W syndrome

Walker-Warburg syndrome

HARD syndrome · Hydrocephalus-agyria-retinal dysplasia syndrome

X-linked fetal akinesia syndrome

Holmes-Benacerraf syndrome