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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: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:0008306
Also known as: ABri amyloidosis, FBD, cerebral amyloid angiopathy, British type +9 more
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
MONDO:0014358
Also known as: AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome, MRD25, Xia-Gibbs syndrome +4 more
MONDO:0012099
Also known as: 5-amino-4-imidazole carboxamide ribosiduria, AICA-ribosiduria due to ATIC deficiency, ATIC deficiency +3 more
MONDO:0009053
Also known as: P5CS deficiency, ARCL3A, De Barsy syndrome A +9 more
MONDO:0012052
Also known as: ALG1-CDG, ALG1-congenital disorder of glycosylation, CDG syndrome type Ik +10 more