MEDLIB
Orphanet Database

Rare diseases

7,547 diseases with genetics, phenotypes, and epidemiology

7,547Diseases
4 552Genes
8 700Phenotypes

Hypochondrogenesis

ORPHA:93297Clin. sub.
Autosomal dominant

Hypochondroplasia

ORPHA:429Disease
Autosomal dominant

Hypocomplementemic urticarial vasculitis

ORPHA:36412Disease
Autosomal recessive, Not applicable

Hypodontia-dysplasia of nails syndrome

ORPHA:2228Malform.
Autosomal dominant

Hypodontia-scalp hypotrichosis-facial dysmorphism syndrome

ORPHA:685067Disease
Autosomal recessive

Hypoglossia-hypodactyly syndrome

ORPHA:989Malform.
Unknown

Hypogonadism-mitral valve prolapse-intellectual disability syndrome

ORPHA:2233Disease
Unknown

Hypogonadotropic hypogonadism-frontoparietal alopecia syndrome

ORPHA:2230Disease
Autosomal dominant

Hypogonadotropic hypogonadism-retinitis pigmentosa syndrome

ORPHA:2235Disease
Unknown

Hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome

ORPHA:293967Malform.
Autosomal recessive

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

ORPHA:528105Disease
Autosomal recessive

Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome

ORPHA:363523Disease
Autosomal recessive

Hypohidrotic ectodermal dysplasia

ORPHA:238468Disease
Autosomal dominant, Autosomal recessive, X-linked recessive

Hypohidrotic ectodermal dysplasia with immunodeficiency

ORPHA:98813Disease
Autosomal dominant, X-linked recessive

Hypohidrotic ectodermal dysplasia-hypothyroidism-ciliary dyskinesia syndrome

ORPHA:1882Malform.
Autosomal recessive

Hypohidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome

ORPHA:69088Disease
X-linked recessive

Hypoinsulinemic hypoglycemia and body hemihypertrophy

ORPHA:293964Disease
Autosomal dominant

Hypokalemic periodic paralysis

ORPHA:681Disease
Autosomal dominant

Hypomandibular faciocranial dysostosis

ORPHA:1790Malform.
Unknown

Hypomaturation amelogenesis imperfecta

ORPHA:100033Clin. sub.
Autosomal recessive, X-linked dominant

Hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism

ORPHA:100034Clin. sub.
Autosomal dominant

Hypomyelinating leukodystrophy-ataxia-hypodontia-hypomyelination syndrome

ORPHA:137639Clin. sub.
Autosomal recessive

Hypomyelination neuropathy-arthrogryposis syndrome

ORPHA:2680Malform.
Autosomal recessive

Hypomyelination of early myelinating structures

ORPHA:599376Disease
X-linked dominant