MEDLIB
Orphanet базасы

Сирек аурулар

7,547 ауру гендер, фенотиптер және эпидемиологиямен

7,547Аурулар
4 552Гендер
8 700Фенотиптер

Hurler-Scheie syndrome

ORPHA:93476Клин. под.
Autosomal recessive

Hutchinson-Gilford progeria syndrome

ORPHA:740Ауру
Autosomal dominant, Autosomal recessive

Hyaline fibromatosis syndrome

ORPHA:498474Ауру

Hyaluronidase deficiency

ORPHA:67041Ауру
Autosomal recessive

Hydatidiform mole

ORPHA:99927Ауру
Autosomal recessive, Not applicable

Hydranencephaly

ORPHA:2177Мальф.
Autosomal recessive, Unknown

Hydroa vacciniforme

ORPHA:330058Ауру
Not applicable

Hydroa vacciniforme-like lymphoma

ORPHA:364039Ауру
Not applicable

Hydrocephalus with stenosis of the aqueduct of Sylvius

ORPHA:2182Клин. под.
X-linked recessive

Hydrocephalus-blue sclerae-nephropathy syndrome

ORPHA:2186Мальф.
Unknown

Hydrocephalus-costovertebral dysplasia-Sprengel anomaly syndrome

ORPHA:2180Мальф.
Unknown

Hydrocephalus-obesity-hypogonadism syndrome

ORPHA:2183Мальф.
X-linked recessive

Hydrocephaly-cerebellar agenesis syndrome

ORPHA:1397Мальф.
X-linked recessive

Hydrocephaly-low insertion umbilicus syndrome

ORPHA:2184Мальф.

Hydrocephaly-tall stature-joint laxity syndrome

ORPHA:2181Мальф.
Autosomal recessive

Hydrolethalus

ORPHA:2189Мальф.
Autosomal recessive

Hydrops fetalis

ORPHA:1041Мальф.
Not applicable

Hydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndrome

ORPHA:528091Ауру

Hydroxykynureninuria

ORPHA:79155Ауру
Autosomal recessive

Hymenolepiasis

ORPHA:401Ауру
Not applicable

Hyper-IgM syndrome type 2

ORPHA:101089Клин. под.
Autosomal recessive

Hyper-IgM syndrome type 3

ORPHA:101090Клин. под.
Autosomal recessive

Hyper-IgM syndrome type 5

ORPHA:101092Клин. под.
Autosomal recessive

Hyper-beta-alaninemia

ORPHA:309147Ауру