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Редкие заболевания

7,547 заболеваний с генами, фенотипами и эпидемиологией

7,547Заболевания
4,552Гены
8,700Фенотипы
Найдено 1,772 заболеваний (Порок) Сброс

Hypodontia-dysplasia of nails syndrome

ORPHA:2228Порок
Autosomal dominant

Hypoglossia-hypodactyly syndrome

ORPHA:989Порок
Unknown

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

ORPHA:293967Порок
Autosomal recessive

Hypohidrotic ectodermal dysplasia-hypothyroidism-ciliary dyskinesia syndrome

ORPHA:1882Порок
Autosomal recessive

Hypomandibular faciocranial dysostosis

ORPHA:1790Порок
Unknown

Hypomyelination neuropathy-arthrogryposis syndrome

ORPHA:2680Порок
Autosomal recessive

Hypomyelination-congenital cataract syndrome

ORPHA:85163Порок
Autosomal recessive

Hypoparathyroidism-sensorineural deafness-renal disease syndrome

ORPHA:2237Порок
Autosomal dominant

Hypoplastic pancreas-intestinal atresia-hypoplastic gallbladder syndrome

ORPHA:293864Порок
Autosomal recessive

Hypospadias-intellectual disability, Goldblatt type syndrome

ORPHA:2261Порок

Hypotrichosis with juvenile macular degeneration

ORPHA:1573Порок
Autosomal recessive

ICF syndrome

ORPHA:2268Порок
Autosomal recessive

IMAGe syndrome

ORPHA:85173Порок
Autosomal dominant, Autosomal recessive

IVIC syndrome

ORPHA:2307Порок
Autosomal dominant

Ichthyosis-intellectual disability-dwarfism-renal impairment syndrome

ORPHA:2278Порок

Ichthyosis-oral and digital anomalies syndrome

ORPHA:2272Порок
Autosomal recessive

Idiopathic juvenile osteoporosis

ORPHA:85193Порок
Multigenic/multifactorial, Not applicable

Imagawa-Matsumoto syndrome

ORPHA:659463Порок
Autosomal dominant

Imperforate oropharynx-costovertebral anomalies syndrome

ORPHA:2759Порок

Incontinentia pigmenti

ORPHA:464Порок
X-linked dominant

Indomethacin embryofetopathy

ORPHA:1909Порок
Not applicable

Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly

ORPHA:402364Порок
Autosomal recessive

Infantile osteopetrosis with neuroaxonal dysplasia

ORPHA:85179Порок
Autosomal recessive

Intellectual disability, Buenos-Aires type

ORPHA:3079Порок