Rare Disease Library

Acalvaria

Primary acalvaria

Acanthokeratolytic verrucous nevus

Acanthosis nigricans-insulin resistance-muscle cramps-acral enlargement syndrome

Acatalasemia

Catalase deficiency

Postinfectious cerebellitis

PIC · Para-infectious cerebellitis

Acyl-CoA dehydrogenase 9 deficiency

ACAD9 deficiency

Anomalous origin of coronary artery from the pulmonary artery

ACAPA

Medium chain acyl-CoA dehydrogenase deficiency

ACADM deficiency · Carnitine deficiency secondary to medium-chain acyl-CoA dehydrogenase deficiency

Onychocytic matricoma

Acanthoma of the nail matrix

Short chain acyl-CoA dehydrogenase deficiency

ACADS deficiency · SCAD deficiency

Chondrodysplasia punctata, tibial-metacarpal type

Choreoacanthocytosis

ChAc · Chorea-acanthocytosis

Cloacal exstrophy

OEIS complex · Omphalocele-cloacal exstrophy-imperforate anus-spinal defect syndrome

Congenital bilateral megacalycosis

Congenital megacalycosis

Crouzon syndrome-acanthosis nigricans syndrome

Crouzon-dermoskeletal syndrome

Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome

Beare-Stevenson cutis gyrata syndrome

Deafness-genital anomalies-metacarpal and metatarsal synostosis syndrome

Hearing loss-genital anomalies-metacarpal and metatarsal synostosis syndrome · Pfeiffer-Kapferer syndrome

Familial keratoacanthoma

Hereditary keratoacanthoma · Multiple keratoacanthoma

Generalized eruptive keratoacanthoma

GEKA · Generalized eruptive keratoacanthomas of Grzybowski

Lethal acantholytic erosive disorder

Leukonychia totalis-acanthosis-nigricans-like lesions-abnormal hair syndrome

Lissencephaly type 3-metacarpal bone dysplasia syndrome

McLeod neuroacanthocytosis syndrome

MLS · X-linked McLeod syndrome

Neuroacanthocytosis

Non-syndromic cloacal malformation

OBSOLETE: ACAN-related skeletal dysplasia

OBSOLETE: Holoacardius amorphus

Severe achondroplasia-developmental delay-acanthosis nigricans syndrome

SADDAN

Short fifth metacarpals-insulin resistance syndrome

Unilateral congenital megacalycosis