Rare Disease Library

Pulmonary valve agenesis

Congenital absence of the pulmonary valve · PVA

Absence of the pulmonary artery

Unilateral Pulmonary Artery Absence · Aplasia of pulmonary artery

Aplasia of lacrimal and salivary glands

ALSG · Congenital absence of lacrimal puncta and salivary glands

Congenital agenesis of the scrotum

Congenital scrotal agenesis · Congenital absence of the scrotum

Congenital anomaly of superior vena cava

Congenital anomaly of superior caval vein · Congenital anomaly of the SVC

Congenital anomaly of the coronary sinus

Congenital anomaly of the inferior vena cava

Congenital anomaly of the IVC · Congenital anomaly of the inferior caval vein

Congenital anomaly of the tricuspid valve chordae

Congenital anomaly of tricuspid chordae tendineae · Congenital anomaly of tricuspid tendinous chords

Congenital aortopulmonary window

Congenital aortopulmonary artery fistula · Congenital aortopulmonary septal defect

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 pulmonary airway malformation

CCAM · CPAM

Congenital pulmonary lymphangiectasia

Pulmonary lymphangiomatosis

Congenital pulmonary sequestration

Congenital bronchopulmonary sequestration

Congenital pulmonary valvar stenosis

Congenital stenosis of pulmonary valve

Congenital pulmonary vein atresia

Congenital PVA · CPVA

Congenital pulmonary veins anomaly

Congenital pulmonary veins atresia or stenosis

Congenital pulmonary venous return anomaly

Congenital pulmonary venous connection anomaly

Congenital total pulmonary venous return anomaly

Hereditary pulmonary alveolar proteinosis

Congenital PAP · Congenital pulmonary alveolar proteinosis

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 humeral agenesis/hypoplasia

Isolated humeral intercalary meromelia · Isolated congenital absence of humerus

Isolated hypoplasia of thumb

Isolated congenital thumb hypodactyly · Isolated congenital thumb oligodactyly

Isolated partial vaginal agenesis

Congenital absence of vagina

Isolated tibial hemimelia

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

Mayer-Rokitansky-Küster-Hauser syndrome type 1

Congenital absence of uterus and vagina · MRKH syndrome type 1

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: Congenital absence of the eyebrow/eyelashes

Phocomelia, Schinzel type

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

Primary pulmonary vein stenosis

PPVS · Congenital pulmonary vein stenosis

Scimitar syndrome

Congenital pulmonary venolobar syndrome · Epibronchial right pulmonary vein syndrome