Rare Disease Library

Absence deformity of leg-cataract syndrome

Absence of fingerprints-congenital milia syndrome

Absence of dermatoglyphics-congenital milia syndrome · Baird syndrome

Absence of innominate vein

Absence of brachiocephalic vein

Absence of the pulmonary artery

Unilateral Pulmonary Artery Absence · Aplasia of pulmonary artery

Absence of uterine body

Absent radius-anogenital anomalies syndrome

Absent thumb-short stature-immunodeficiency syndrome

Absent tibia-polydactyly-arachnoid cyst syndrome

Holmes-Collins syndrome

Amniotic band syndrome

Congenital constriction ring syndrome · Congenital ring constrictions

Agenesis of the superior vena cava

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

Athabaskan brainstem dysgenesis syndrome

ABSD · Athabascan brainstem dysgenesis syndrome

Genitopatellar syndrome

Absent patellae-scrotal hypoplasia-renal anomalies-facial dysmorphism-intellectual disability syndrome

Pseudoprogeria syndrome

Hal-Berg-Rudolph syndrome · Absent eyebrows and eyelashes-intellectual disability syndrome

Pulmonary valve agenesis

Congenital absence of the pulmonary valve · PVA

Pulmonary valve agenesis-tetralogy of Fallot-absence of ductus arteriosus syndrome

APV/ADA, Fallot type · Absence of pulmonary valve-Fallot tetralogy-absence of ductus arteriosus syndrome

Sporadic infantile bilateral striatal necrosis

Sporadic IBSN · Sporadic infantile striatonigral degeneration

Tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome

Absent tibia-polydactyly syndrome · Werner mesomelic spectrum

Aniridia-absent patella syndrome

Aseptic abscess syndrome

Aseptic abscesses syndrome · Aseptic systemic abscesses

Bile acid synthesis defect with cholestasis and malabsorption

Childhood absence epilepsy

Pyknolepsy

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

Cooper-Jabs syndrome

Aural atresia-multiple congenital anomalies-intellectual disability syndrome

Disorder of amino acid absorption and transport

Disorder of carbohydrate absorption and transport

Disorder of lipid absorption and transport

Disorder of metabolite absorption and transport

Disorder of mineral absorption and transport

Disorder of vitamin and non-protein cofactor absorption and transport

Ectodermal dysplasia-natal teeth-skin abscesses-plantar hyperkeratosis-hearing impairment

Epilepsy with myoclonic absences

Familial adrenal hypoplasia with absent pituitary luteinizing hormone

Familial adrenal hypoplasia with absent pituitary LH · Familial adrenal hypoplasia, miniature type

Genetic intestinal disease due to fat malabsorption

Glucose-galactose malabsorption

CGGM · Congenital glucose-galactose malabsorption

Hereditary folate malabsorption

Congenital folate malabsorption

Idiopathic malabsorption due to bile acid synthesis defects

Idiopathic bile acid malabsorption

Internal carotid absence

Intestinal disease due to fat malabsorption

Intestinal disease due to vitamin absorption anomaly

Isolated absence of both forearm and hand

Isolated congenital radio-ulnar terminal transverse meromelia

Isolated absence of both lower leg and foot

Isolated congenital tibiofibular terminal transverse meromelia

Isolated absence of thigh and lower leg with foot present

Isolated congenital femoro-tibio-fibular intercalary transverse meromelia

Isolated absence of upper arm and forearm with hand present

Isolated congenital humero-radio-ulnar intercalary transverse meromelia

Isolated absence/hypoplasia of fingers excluding thumb, unilateral

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

Juvenile absence epilepsy

JAE

Microcornea-glaucoma-absent frontal sinuses syndrome

OBSOLETE: Congenital absence of both forearm and hand, bilateral

OBSOLETE: Radio-ulnar terminal transverse meromelia, bilateral