MEDLIB
Orphanet Datenbank

Seltene Erkrankungen

7,547 Erkrankungen mit Genetik, Phänotypen und Epidemiologie

7,547Erkrankungen
4 552Gene
8 700Phänotypen
1,772 Erkrankungen gefunden (Malf.) Zurücksetzen

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-vitiligo-achalasia syndrome

ORPHA:3239Malf.
Autosomal recessive

Delayed membranous cranial ossification

ORPHA:3034Malf.

Delayed speech-facial asymmetry-strabismus-ear lobe creases syndrome

ORPHA:3038Malf.

Deletion 5q35 syndrome

ORPHA:1627Malf.
Not applicable, Unknown

Dental ankylosis

ORPHA:1077Malf.

Dentinogenesis imperfecta-short stature-hearing loss-intellectual disability syndrome

ORPHA:71267Malf.
Autosomal recessive

Dermatoosteolysis, Kirghizian type

ORPHA:1657Malf.
Autosomal recessive

Dermoodontodysplasia

ORPHA:1660Malf.
Autosomal dominant

Dermotrichic syndrome

ORPHA:99688Malf.

Desbuquois syndrome

ORPHA:1425Malf.
Autosomal recessive

Developmental delay-ataxia-hypotonia-facial dysmorphism syndrome

ORPHA:658843Malf.
Autosomal dominant

Developmental delay-facial dysmorphism syndrome due to MED13L deficiency

ORPHA:369891Malf.
Autosomal dominant

Developmental delay-macrocephaly-corpus callosum dysgenesis-intellectual disability syndrome

ORPHA:714404Malf.
Autosomal dominant

Developmental delay-overweight-facial dysmorphism-behavioral abnormalities syndrome

ORPHA:652487Malf.
Autosomal dominant

Developmental delay-white matter abnormalities-strabismus-recurrent respiratory tract infections syndrome

ORPHA:708208Malf.
Autosomal dominant

Developmental malformations-deafness-dystonia syndrome

ORPHA:79107Malf.
Autosomal dominant

Diabetic embryopathy

ORPHA:1926Malf.
Not applicable

Diaphanospondylodysostosis

ORPHA:66637Malf.
Autosomal recessive

Diaphragmatic defect-limb deficiency-skull defect syndrome

ORPHA:2141Malf.
Unknown