Not just a database. A living network.
Instant access to the latest research.
Reviewed by accredited professionals.
Enhanced by real patient experiences.
Search by disease name, gene symbol, or synonym. Use filters to narrow your results.
MONDO:0013120
Also known as: 46,XY Sex reversal type 5, 46,XY sex reversal 5, 46XY sex reversal 5 +6 more
MONDO:0013410
Also known as: 46,XY Sex reversal type 6, 46,XY sex reversal 6, 46XY sex reversal 6 +4 more
MONDO:0009301
Also known as: 46,XY Sex reversal type 7, 46,XY sex reversal 7, 46XY sex reversal 7 +5 more
MONDO:0014480
Also known as: 46,XY Sex reversal type 9, 46,XY sex reversal 9, 46XY sex reversal 9 +3 more
MONDO:0030049
Also known as: 46,XX SEX REVERSAL 5, 46,xx sex reversal 5, SRXX5
MONDO:0007742
Also known as: 5-hydroxytryptamine oxygenase regulator, 5-HYDROXYTRYPTAMINE oxygenase regulator, HTOR
MONDO:0009825
Also known as: 5-oxoprolinase deficiency, 5-oxoprolinase deficiency (disease), inborn 5-oxoprolinase (ATP-hydrolyzing) activity disorder +6 more
MONDO:0012342
Also known as: dup(7)(q11.23), trisomy 7q11.23, 7q11.23 duplication syndrome +6 more
MONDO:0011977
Also known as: Nablus mask-like facial syndrome, monosomy 8q22.1, NABLUS mask-like facial syndrome +2 more
MONDO:0014263
Also known as: Verheij syndrome, VRJS, chromosome 8Q24.3 deletion syndrome
MONDO:0010895
Also known as: ABCD syndrome, albinism, block lock, cell migration disorder of the neurocytes of the gut, and deafness, ABCDS +1 more
MONDO:0008306
Also known as: ABri amyloidosis, FBD, cerebral amyloid angiopathy, British type +9 more
MONDO:0859262
Also known as: UBA2-related neurodevelopmental disorder, aplasia cutis congenita with ectrodactyly skeletal syndrome, aplasia cutis congenita with ectrodactyly skeletal syndrome
MONDO:0100433
Also known as: ACTB-AST, thrombocytopenia 8, with dysmorphic features and developmental delay
MONDO:0020735
Also known as: ACTH-independent macronodular adrenal hyperplasia, ACTH-independent macronodular adrenal hyperplasia 1, ACTH-independent macronodular adrenal hyperplasia, Somatic mutation +5 more
MONDO:0007098
Also known as: cerebral amyloid angiopathy, CST3-related amyloidosis, HCHWA, Icelandic type +12 more
MONDO:0014379
Also known as: ADNP Syndrome, ADNP syndrome, ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder +7 more
MONDO:0007072
Also known as: ADULT syndrome, acro-dermato-ungual-lacrimal-tooth syndrome, acrodermatounguallacrimaltooth syndrome +3 more
MONDO:0007297
Also known as: FDD, HOOE, Heredopathia Ophthalmootoencephalica +8 more
MONDO:0012996
Also known as: AGAT deficiency, CCDS3, GATM deficiency +7 more