Rare Disease Library

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 partial vaginal agenesis

Congenital absence of vagina

Isolated proximal femoral focal deficiency

PFFD · CPFD

Isolated pseudoarthrosis of the limbs

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

Isolated pyloric duplication

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

Isolated radial hemimelia

Isolated radial ray agenesis · Isolated radial longitidinal meromelia

Isolated radio-ulnar synostosis

Isolated congenital radioulnar fusion

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

Isolated ulnar hemimelia

Isolated ulnar deficiency of forearm · Isolated ulnar longitudinal meromelia

Mayer-Rokitansky-Küster-Hauser syndrome type 1

Congenital absence of uterus and vagina · MRKH syndrome type 1

Non-acquired isolated growth hormone deficiency

Congenital IGHD · Congenital isolated GH deficiency

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 both forearm and hand, bilateral

OBSOLETE: Radio-ulnar terminal transverse meromelia, bilateral

OBSOLETE: Congenital absence of both forearm and hand, unilateral

OBSOLETE: Radio-ulnar terminal transverse meromelia, unilateral

OBSOLETE: Congenital absence of both lower leg and foot, bilateral

OBSOLETE: Tibiofibular terminal transverse meromelia, bilateral

OBSOLETE: Congenital absence of both lower leg and foot, unilateral

OBSOLETE: Tibiofibular terminal transverse meromelia, unilateral

OBSOLETE: Congenital absence of the eyebrow/eyelashes

OBSOLETE: Congenital absence of thigh and lower leg with foot present, bilateral

OBSOLETE: Femorotibiofibular intercalary transverse meromelia, bilateral

OBSOLETE: Congenital absence of thigh and lower leg with foot present, unilateral

OBSOLETE: Femorotibiofibular intercalary transverse meromelia, unilateral

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

Phocomelia, Schinzel type

Al Awadi-Raas-Rothschild syndrome · Aplasia/hypoplasia of limbs and pelvis

Pulmonary valve agenesis

Congenital absence of the pulmonary valve · PVA

T-cell immunodeficiency with thymic aplasia

Nezelof syndrome · Isolated congenital athymia