Rare Disease Library

Isolated complex III deficiency

Isolated CoQ-cytochrome C reductase deficiency · Isolated coenzyme Q-cytochrome C reductase deficiency

Isolated congenital adermatoglyphia

Congenital absence of fingerprints · Immigration delay disease

Isolated congenital aglossia

Isolated congenital alacrima

Isolated congenital anonychia

Isolated anonychia

Isolated congenital anosmia

Isolated congenital auditory ossicle malformation

Congenital auditory ossicle malformation without external ear abnormality

Isolated congenital breast hypoplasia/aplasia

Isolated congenital amastia

Isolated congenital cholesteatoma of the middle ear

CCME · Congenital middle ear cholesteatoma

Isolated congenital ectropion

Isolated congenital entropion

Isolated congenital femoral bifurcation

Isolated congenital distal femoral duplication

Isolated congenital hepatic fibrosis

Isolated CHF

Isolated congenital hypoglossia

Isolated congenital hypoglossia/aglossia

Isolated congenital hypogonadotropic hypogonadism

Isolated congenital gonadotropin deficiency · Gonadotropic deficiency

Isolated congenital laryngeal web

Isolated congenital megalocornea

Congenital anterior megalophthalmia

Isolated congenital microcephaly

Isolated congenital nasal pyriform aperture stenosis

Isolated apertura pyriformis stenosis · Isolated nasal pyriform aperture hypoplasia

Isolated congenital onychodysplasia

COIF · COIF syndrome

Isolated congenital radial head dislocation

Isolated congenital elbow dislocation

Isolated congenital sclerocornea

Isolated congenital syngnathia

Isolated congenital maxillomandibular fusion

Isolated congenitally uncorrected transposition of the great arteries

Isolated congenitally uncorrected transposition of the great vessels

Isolated constitutional thrombocytopenia

Non-syndromic constitutional thrombocytopenia · Constitutional thrombocytopenia without extra-hematopoietic manifestations

Isolated corpus callosum agenesis

Isolated cryptophthalmia

Isolated cytochrome C oxidase deficiency

Isolated COX deficiency · Isolated mitochondrial respiratory chain complex IV deficiency

Isolated Dandy-Walker malformation

Isolated Dandy-Walker malformation with hydrocephalus

Isolated Dandy-Walker malformation without hydrocephalus

Isolated delta-storage pool disease

Isolated delta-SPD · Isolated dense-SPD

Isolated diffuse palmoplantar keratoderma

Isolated diffuse PPK · Isolated diffuse keratosis palmoplantaris

Isolated digestive duplication cyst of the tongue

Enteric duplication cyst of the tongue · Foregut duplication cyst of the tongue

Isolated distal symphalangism

Isolated distichiasis

Isolated duodenal duplication

Isolated duplication of the duodenum

Isolated dystonia

Pure dystonia

Isolated ectopia lentis

Ectopia lentis syndrome · Familial ectopia lentis

Isolated encephalocele

Isolated epispadias

Isolated esophageal duplication cyst

Isolated exencephaly

Isolated familial medullary thyroid carcinoma

Hereditary isolated MTC · Isolated familial MTC

Isolated female hypospadias

Isolated femoral agenesis/hypoplasia

Isolated congenital femoral deficiency · Isolated congenital short femur

Isolated fibular hemimelia

Isolated congenital longitudinal deficiency of the fibula · Isolated fibular longitudinal meromelia