MEDLIB
Orphanet Database

Rare diseases

7,547 diseases with genetics, phenotypes, and epidemiology

7,547Diseases
4 552Genes
8 700Phenotypes
1,772 diseases matched (Malform.) Reset

7q31 microdeletion syndrome

ORPHA:251061Malform.
Not applicable, Unknown

8p inverted duplication/deletion syndrome

ORPHA:96092Malform.
Not applicable, Unknown

8p11.2 deletion syndrome

ORPHA:251066Malform.
Not applicable, Unknown

8p23.1 duplication syndrome

ORPHA:251076Malform.
Not applicable, Unknown

8p23.1 microdeletion syndrome

ORPHA:251071Malform.
Not applicable, Unknown

8q12 microduplication syndrome

ORPHA:228399Malform.
Not applicable, Unknown

8q21.11 microdeletion syndrome

ORPHA:284160Malform.
Autosomal dominant, Not applicable

8q22.1 microdeletion syndrome

ORPHA:178303Malform.
Not applicable, Unknown

8q24.3 microdeletion syndrome

ORPHA:508488Malform.
Not applicable

9p13 microdeletion syndrome

ORPHA:324313Malform.
Not applicable, Unknown

9q21.13 microdeletion syndrome

ORPHA:531151Malform.
Not applicable

9q31.1q31.3 microdeletion syndrome

ORPHA:401923Malform.
Unknown

9q33.3q34.11 microdeletion syndrome

ORPHA:495818Malform.
Not applicable

ADULT syndrome

ORPHA:978Malform.
Autosomal dominant

AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome

ORPHA:412069Malform.
Autosomal dominant

AREDYLD syndrome

ORPHA:1133Malform.
Autosomal recessive

Aarskog-Scott syndrome

ORPHA:915Malform.
Autosomal dominant, Autosomal recessive, X-linked recessive

Aase-Smith syndrome type 1

ORPHA:916Malform.
Autosomal dominant

Ablepharon macrostomia syndrome

ORPHA:920Malform.
Autosomal dominant

Abruzzo-Erickson syndrome

ORPHA:921Malform.
X-linked recessive

Absence deformity of leg-cataract syndrome

ORPHA:2310Malform.

Absent radius-anogenital anomalies syndrome

ORPHA:3016Malform.

Absent thumb-short stature-immunodeficiency syndrome

ORPHA:2951Malform.
Unknown

Absent tibia-polydactyly-arachnoid cyst syndrome

ORPHA:3328Malform.
Unknown