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Редкие заболевания

7,547 заболеваний с генами, фенотипами и эпидемиологией

7,547Заболевания
4 552Гены
8 700Фенотипы

Hurler-Scheie syndrome

ORPHA:93476Clin. sub.
Autosomal recessive

Hutchinson-Gilford progeria syndrome

ORPHA:740Disease
Autosomal dominant, Autosomal recessive

Hyaline fibromatosis syndrome

ORPHA:498474Disease

Hyaluronidase deficiency

ORPHA:67041Disease
Autosomal recessive

Hydatidiform mole

ORPHA:99927Disease
Autosomal recessive, Not applicable

Hydranencephaly

ORPHA:2177Malform.
Autosomal recessive, Unknown

Hydroa vacciniforme

ORPHA:330058Disease
Not applicable

Hydroa vacciniforme-like lymphoma

ORPHA:364039Disease
Not applicable

Hydrocephalus with stenosis of the aqueduct of Sylvius

ORPHA:2182Clin. sub.
X-linked recessive

Hydrocephalus-blue sclerae-nephropathy syndrome

ORPHA:2186Malform.
Unknown

Hydrocephalus-costovertebral dysplasia-Sprengel anomaly syndrome

ORPHA:2180Malform.
Unknown

Hydrocephalus-obesity-hypogonadism syndrome

ORPHA:2183Malform.
X-linked recessive

Hydrocephaly-cerebellar agenesis syndrome

ORPHA:1397Malform.
X-linked recessive

Hydrocephaly-low insertion umbilicus syndrome

ORPHA:2184Malform.

Hydrocephaly-tall stature-joint laxity syndrome

ORPHA:2181Malform.
Autosomal recessive

Hydrolethalus

ORPHA:2189Malform.
Autosomal recessive

Hydrops fetalis

ORPHA:1041Malform.
Not applicable

Hydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndrome

ORPHA:528091Disease

Hydroxykynureninuria

ORPHA:79155Disease
Autosomal recessive

Hymenolepiasis

ORPHA:401Disease
Not applicable

Hyper-IgM syndrome type 2

ORPHA:101089Clin. sub.
Autosomal recessive

Hyper-IgM syndrome type 3

ORPHA:101090Clin. sub.
Autosomal recessive

Hyper-IgM syndrome type 5

ORPHA:101092Clin. sub.
Autosomal recessive

Hyper-beta-alaninemia

ORPHA:309147Disease