Rare Disease Library

Isolated hypoplasia of thumb

Isolated congenital thumb hypodactyly · Isolated congenital thumb oligodactyly

Adrenal hypoplasia congenita

Congenital adrenal hypoplasia · AHC

Congenital agenesis of the scrotum

Congenital scrotal agenesis · Congenital absence of the scrotum

Congenital bilateral absence of vas deferens

Congenital bilateral agenesis of vas deferens · Congenital bilateral aplasia of vas deferens

Congenital insensitivity to pain-hyperhidrosis-absence of cutaneous sensory innervation

Congenital insensitivity to pain with hyperhidrosis · Congenital absence of pain with hyperhidrosis

Congenital isolated ACTH deficiency

Congenital isolated hyperinsulinism

PHHI · Persistent hyperinsulinemic hypoglycemia of infancy

Congenital renal artery stenosis

Congenital renovascular hypoplasia

Congenital unilateral hypoplasia of depressor anguli oris

Isolated asymmetric crying facies

Familial isolated congenital asplenia

Isolated absence/hypoplasia of fingers excluding thumb, unilateral

Isolated congenital adactyly of hand, unilateral · Isolated digits 2-5 hypodactyly, unilateral

Isolated acheiria

Isolated congenital absence of hand

Isolated amelia of lower limb

Isolated congenital absence of lower limb

Isolated amelia of upper limb

Isolated congenital absence of upper limb

Isolated apodia

Isolated congenital absence of foot

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 hypoglossia

Isolated congenital hypoglossia/aglossia

Isolated congenital hypogonadotropic hypogonadism

Isolated congenital gonadotropin deficiency · Gonadotropic deficiency

Isolated congenital onychodysplasia

COIF · COIF syndrome

Isolated congenital syngnathia

Isolated congenital maxillomandibular fusion

Isolated femoral agenesis/hypoplasia

Isolated congenital femoral deficiency · Isolated congenital short femur

Isolated foveal hypoplasia

Isolated humeral agenesis/hypoplasia

Isolated humeral intercalary meromelia · Isolated congenital absence of humerus

Isolated nail clubbing

Isolated congenital acropachy · Isolated congenital digital clubbing

Isolated optic nerve hypoplasia

Isolated partial vaginal agenesis

Congenital absence of vagina

Isolated patella aplasia/hypoplasia

PTLAH

Isolated pseudoarthrosis of the limbs

Isolated congenital pseudarthrosis of the limbs · Congenital pseudoarthrosis of the limbs

Isolated tibial hemimelia

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

OBSOLETE: Acheiria, bilateral

OBSOLETE: Congenital absence of hand, bilateral

OBSOLETE: Acheiria, unilateral

OBSOLETE: Congenital absence of hand, unilateral

OBSOLETE: Adactyly of foot

OBSOLETE: Congenital absence of toes

OBSOLETE: Adactyly of foot, bilateral

OBSOLETE: Congenital absence of toes, bilateral

OBSOLETE: Adactyly of foot, unilateral

OBSOLETE: Congenital absence of toes, unilateral

OBSOLETE: Apodia, bilateral

OBSOLETE: Congenital absence of foot, bilateral

OBSOLETE: Apodia, unilateral

OBSOLETE: Congenital absence of foot, unilateral

OBSOLETE: Congenital absence of the eyebrow/eyelashes

OBSOLETE: Congenital absence/hypoplasia of fingers excluding thumb

OBSOLETE: Digits 2-5 hypodactyly · OBSOLETE: Digits 2-5 oligodactyly

OBSOLETE: Congenital absence/hypoplasia of fingers excluding thumb, bilateral

OBSOLETE: Adactyly of hand, bilateral · OBSOLETE: Digits 2-5 hypodactyly, bilateral

OBSOLETE: Congenital absence/hypoplasia of thumb, bilateral

OBSOLETE: Thumb hypodactyly, bilateral · OBSOLETE: Thumb oligodactyly, bilateral

OBSOLETE: Congenital absence/hypoplasia of thumb, unilateral

OBSOLETE: Thumb hypodactyly, unilateral · OBSOLETE: Thumb oligodactyly, unilateral

OBSOLETE: Congenital adrenal hypoplasia of maternal cause