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База Orphanet

Редкие заболевания

7,547 заболеваний с генами, фенотипами и эпидемиологией

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

Holoprosencephaly-caudal dysgenesis syndrome

ORPHA:2165Порок

Holoprosencephaly-craniosynostosis syndrome

ORPHA:2163Порок

Holoprosencephaly-postaxial polydactyly syndrome

ORPHA:2166Порок
Autosomal recessive

Holoprosencephaly-radial heart renal anomalies syndrome

ORPHA:3186Порок

Holt-Oram syndrome

ORPHA:392Порок
Autosomal dominant

Holzgreve syndrome

ORPHA:2167Порок

Humerus trochlea aplasia

ORPHA:3383Порок

Hunter-McAlpine syndrome

ORPHA:97340Порок

Hydranencephaly

ORPHA:2177Порок
Autosomal recessive, Unknown

Hydrocephalus-blue sclerae-nephropathy syndrome

ORPHA:2186Порок
Unknown

Hydrocephalus-costovertebral dysplasia-Sprengel anomaly syndrome

ORPHA:2180Порок
Unknown

Hydrocephalus-obesity-hypogonadism syndrome

ORPHA:2183Порок
X-linked recessive

Hydrocephaly-cerebellar agenesis syndrome

ORPHA:1397Порок
X-linked recessive

Hydrocephaly-low insertion umbilicus syndrome

ORPHA:2184Порок

Hydrocephaly-tall stature-joint laxity syndrome

ORPHA:2181Порок
Autosomal recessive

Hydrolethalus

ORPHA:2189Порок
Autosomal recessive

Hydrops fetalis

ORPHA:1041Порок
Not applicable

Hyperandrogenism due to cortisone reductase deficiency

ORPHA:168588Порок
Autosomal dominant, Autosomal recessive

Hypergonadotropic hypogonadism-cataract syndrome

ORPHA:2410Порок
Autosomal recessive

Hyperostosis corticalis generalisata

ORPHA:3416Порок
Autosomal dominant, Autosomal recessive

Hypertelorism-hypospadias-polysyndactyly syndrome

ORPHA:2211Порок
Autosomal recessive

Hypertelorism-microtia-facial clefting syndrome

ORPHA:2213Порок
Autosomal recessive

Hypertelorism-preauricular sinus-punctual pits-deafness syndrome

ORPHA:293958Порок
Autosomal dominant

Hypertrichosis cubiti

ORPHA:2220Порок
Autosomal dominant