MEDLIB
Orphanet Datenbank

Seltene Erkrankungen

7,547 Erkrankungen mit Genetik, Phänotypen und Epidemiologie

7,547Erkrankungen
4,552Gene
8,700Phänotypen

Dandy-Walker malformation-postaxial polydactyly syndrome

ORPHA:1566Malf.
Autosomal recessive

Danon disease

ORPHA:34587Kr.
X-linked dominant

Darier disease

ORPHA:218Kr.
Autosomal dominant

De Barsy syndrome

ORPHA:2962Kr.
Autosomal recessive

De novo thrombotic microangiopathy after kidney transplantation

ORPHA:244275spez. Sit.

Deaf blind hypopigmentation syndrome, Yemenite type

ORPHA:3214Malf.
Autosomal recessive

Deafness with labyrinthine aplasia, microtia, and microdontia

ORPHA:90024Malf.
Autosomal recessive

Deafness-craniofacial syndrome

ORPHA:3241Malf.

Deafness-ear malformation-facial palsy syndrome

ORPHA:3232Malf.

Deafness-enamel hypoplasia-nail defects syndrome

ORPHA:3220Malf.
Autosomal recessive

Deafness-encephaloneuropathy-obesity-valvulopathy syndrome

ORPHA:254898Kr.
Autosomal recessive

Deafness-epiphyseal dysplasia-short stature syndrome

ORPHA:3218Malf.

Deafness-genital anomalies-metacarpal and metatarsal synostosis syndrome

ORPHA:3224Malf.

Deafness-hypogonadism syndrome

ORPHA:90646Malf.

Deafness-infertility syndrome

ORPHA:94064Malf.
Autosomal recessive

Deafness-intellectual disability syndrome, Martin-Probst type

ORPHA:85321Malf.
X-linked recessive

Deafness-oligodontia syndrome

ORPHA:3230Malf.

Deafness-onychodystrophy syndrome

ORPHA:3231Kl. gruppe
Autosomal dominant, Autosomal recessive

Deafness-small bowel diverticulosis-neuropathy syndrome

ORPHA:3217Kr.

Deafness-vitiligo-achalasia syndrome

ORPHA:3239Malf.
Autosomal recessive

Dedifferentiated liposarcoma

ORPHA:99970His. subt.
Not applicable

Deep dermatophytosis

ORPHA:397587Kr.
Not applicable

Deficiency in anterior pituitary function-variable immunodeficiency syndrome

ORPHA:293978Kr.
Autosomal dominant

Deficiency of adenosine deaminase 2

ORPHA:404553Kr.
Autosomal recessive