Rare Disease Library

T-cell immunodeficiency with thymic aplasia

Nezelof syndrome · Isolated congenital athymia

Adrenal hypoplasia congenita

Congenital adrenal hypoplasia · AHC

Aplasia cutis congenita

Congenital adrenal hyperplasia

CAH

Congenital amyoplasia

Amyoplasia congenita

Congenital isolated ACTH deficiency

Congenital isolated hyperinsulinism

PHHI · Persistent hyperinsulinemic hypoglycemia of infancy

Congenital megaprepuce

Isolated congenital buried penis

Congenital renal artery stenosis

Congenital renovascular hypoplasia

Diamond-Blackfan anemia

Diamond-Blackfan anemia syndrome · Congenital PRCA

Familial congenital mirror movements

Familial congenital controlateral synkinesia · Hereditary congenital controlateral synkinesia

Familial isolated congenital asplenia

Isolated acheiria

Isolated congenital absence of hand

Isolated apodia

Isolated congenital absence of foot

Isolated cerebellar vermis hypoplasia

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 breast hypoplasia/aplasia

Isolated congenital amastia

Isolated congenital ectropion

Isolated congenital entropion

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 sclerocornea

Isolated congenital syngnathia

Isolated congenital maxillomandibular fusion

Isolated femoral agenesis/hypoplasia

Isolated congenital femoral deficiency · Isolated congenital short femur

Isolated foveal hypoplasia

Isolated growth hormone deficiency type IA

Congenital IGHD type IA · Congenital isolated GH deficiency type IA

Isolated humeral agenesis/hypoplasia

Isolated humeral intercalary meromelia · Isolated congenital absence of humerus

Isolated humero-radial synostosis

Isolated congenital humeroradial fusion

Isolated humero-ulnar synostosis

Isolated congenital humeroulnar fusion

Isolated hypoplasia of thumb

Isolated congenital thumb hypodactyly · Isolated congenital thumb oligodactyly

Isolated nail clubbing

Isolated congenital acropachy · Isolated congenital digital clubbing

Isolated optic nerve hypoplasia

Isolated patella aplasia/hypoplasia

PTLAH

Isolated pyloric duplication

Isolated duplication cyst of the pyloric canal · Isolated duplication cyst of the pylorus

Isolated tibial hemimelia

Isolated congenital absence of tibia · Isolated congenital aplasia and dysplasia of the tibia with intact fibula

Isolated tibio-fibular synostosis

Isolated congenital tibiofibular fusion

Non-acquired isolated growth hormone deficiency

Congenital IGHD · Congenital isolated GH deficiency