Rare Disease Library

Congenital agenesis of the scrotum

Congenital scrotal agenesis · Congenital absence of the scrotum

Absence of fingerprints-congenital milia syndrome

Absence of dermatoglyphics-congenital milia syndrome · Baird syndrome

Agenesis of the superior vena cava

Absence of the superior caval vein · Absence of the superior vena cava

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 great veins

Congenital anomaly of the inferior vena cava

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

Congenital bilateral absence of vas deferens

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

Congenital cervical spinal stenosis

Congenital narrowing of cervical spinal canal · Congenital stenosis of the cervical spine

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

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

Congenital stenosis of the inferior vena cava

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

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: 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 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