Редкие (орфанные) заболевания
Полная база данных 7,547 заболеваний с генетикой, фенотипами, эпидемиологией, лекарствами и клиническими исследованиями.
Hypodontia-dysplasia of nails syndrome
Autosomal dominant
Childhood
Hypoglossia-hypodactyly syndrome
Unknown
Antenatal, Neonatal
Hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome
Autosomal recessive
Antenatal, Infancy, Neonatal
Hypohidrotic ectodermal dysplasia-hypothyroidism-ciliary dyskinesia syndrome
Autosomal recessive
Childhood
Hypomandibular faciocranial dysostosis
Unknown
Antenatal, Neonatal
Hypomyelination neuropathy-arthrogryposis syndrome
Autosomal recessive
Antenatal
Hypomyelination-congenital cataract syndrome
Autosomal recessive
Infancy, Neonatal
Hypoparathyroidism-sensorineural deafness-renal disease syndrome
Autosomal dominant
All ages
Hypoplastic pancreas-intestinal atresia-hypoplastic gallbladder syndrome
Autosomal recessive
Infancy, Neonatal
Hypospadias-intellectual disability, Goldblatt type syndrome
Infancy, Neonatal
Hypotrichosis with juvenile macular degeneration
Autosomal recessive
Infancy, Neonatal
ICF syndrome
Autosomal recessive
Childhood
IMAGe syndrome
Autosomal dominant, Autosomal recessive
Infancy, Neonatal
IVIC syndrome
Autosomal dominant
Antenatal, Neonatal
Ichthyosis-intellectual disability-dwarfism-renal impairment syndrome
Neonatal
Ichthyosis-oral and digital anomalies syndrome
Autosomal recessive
Infancy, Neonatal
Idiopathic juvenile osteoporosis
Multigenic/multifactorial, Not applicable
Adolescent, Childhood
Imagawa-Matsumoto syndrome
Autosomal dominant
Antenatal, Neonatal
Imperforate oropharynx-costovertebral anomalies syndrome
Neonatal
Incontinentia pigmenti
X-linked dominant
Neonatal
Indomethacin embryofetopathy
Not applicable
Antenatal, Neonatal
Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly
Autosomal recessive
Infancy
Infantile osteopetrosis with neuroaxonal dysplasia
Autosomal recessive
Infancy, Neonatal
Intellectual disability, Buenos-Aires type
Neonatal