Редкие (орфанные) заболевания
Полная база данных 7,547 заболеваний с генетикой, фенотипами, эпидемиологией, лекарствами и клиническими исследованиями.
Hypochondrogenesis
Autosomal dominant
Infancy, Neonatal
Hypochondroplasia
Autosomal dominant
Adolescent, Adult, Antenatal, Childhood, Infancy, Neonatal
Hypocomplementemic urticarial vasculitis
Autosomal recessive, Not applicable
Adult, Childhood
Hypodontia-dysplasia of nails syndrome
Autosomal dominant
Childhood
Hypodontia-scalp hypotrichosis-facial dysmorphism syndrome
Autosomal recessive
Hypoglossia-hypodactyly syndrome
Unknown
Antenatal, Neonatal
Hypogonadism-mitral valve prolapse-intellectual disability syndrome
Unknown
Infancy
Hypogonadotropic hypogonadism-frontoparietal alopecia syndrome
Autosomal dominant
Childhood
Hypogonadotropic hypogonadism-retinitis pigmentosa syndrome
Unknown
No data available
Hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome
Autosomal recessive
Antenatal, Infancy, Neonatal
Hypohidrosis-electrolyte imbalance-lacrimal gland dysfunction-ichthyosis-xerostomia syndrome
Autosomal recessive
Adolescent, Adult, Childhood
Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome
Autosomal recessive
Infancy, Neonatal
Hypohidrotic ectodermal dysplasia
Autosomal dominant, Autosomal recessive, X-linked recessive
Infancy, Neonatal
Hypohidrotic ectodermal dysplasia with immunodeficiency
Autosomal dominant, X-linked recessive
Infancy, Neonatal
Hypohidrotic ectodermal dysplasia-hypothyroidism-ciliary dyskinesia syndrome
Autosomal recessive
Childhood
Hypohidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome
X-linked recessive
Infancy, Neonatal
Hypoinsulinemic hypoglycemia and body hemihypertrophy
Autosomal dominant
Infancy, Neonatal
Hypokalemic periodic paralysis
Autosomal dominant
Adolescent, Childhood
Hypomandibular faciocranial dysostosis
Unknown
Antenatal, Neonatal
Hypomaturation amelogenesis imperfecta
Autosomal recessive, X-linked dominant
Hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism
Autosomal dominant
Hypomyelinating leukodystrophy-ataxia-hypodontia-hypomyelination syndrome
Autosomal recessive
Infancy, Neonatal
Hypomyelination neuropathy-arthrogryposis syndrome
Autosomal recessive
Antenatal
Hypomyelination of early myelinating structures
X-linked dominant
Infancy