Rare Disease Library

Isolated nail anomaly

Isolated nail clubbing

Isolated congenital acropachy · Isolated congenital digital clubbing

Isolated neonatal sclerosing cholangitis

Isolated optic nerve aplasia

Isolated optic nerve hypoplasia

Isolated optic neuritis

ION

Isolated osteopoikilosis

Isolated oxidative phosphorylation complex disorder

Isolated respiratory chain complex disorder

Isolated partial cerebellar vermis agenesis

Isolated partial vaginal agenesis

Congenital absence of vagina

Isolated patella aplasia/hypoplasia

PTLAH

Isolated permanent neonatal diabetes mellitus

Monogenic diabetes of infancy · Isolated PNDM

Isolated persistent urogenital sinus

Isolated PUGS

Isolated Pierre Robin sequence

PRS

Isolated polycystic liver disease

ADPCLD · Autosomal dominant polycystic liver disease

Isolated posterior meningocele

Isolated primary pigmented nodular adrenocortical disease

i-PPNAD · Isolated PPNAD

Isolated proximal femoral focal deficiency

PFFD · CPFD

Isolated pseudoarthrosis of the limbs

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

Isolated pulmonary artery sling

PAS · Isolated anomalous left pulmonary artery

Isolated pulmonary capillaritis

Isolated punctate palmoplantar keratoderma

Isolated punctate PPK · Isolated punctate palmoplantar hyperkeratosis

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 rare lymphatic malformation

LM · Lymphangioma

Isolated rectal duplication

Isolated retinal racemose hemangioma

RRH · Isolated retinal arteriovenous aneurysm 3

Isolated right ventricular hypoplasia

Isolated sedoheptulokinase deficiency

Isolated SHPK deficiency

Isolated segmental infantile hemangioma

Segmental hemangioma of infancy · Large segmental hemangioma

Isolated small intestine duplication

Isolated splenic vein thrombosis

Isolated splenogonadal fusion

SGF

Isolated split hand-split foot malformation

Ectrodactyly · SHFM

Isolated spontaneous cervical artery dissection

CeAD

Isolated sternocostoclavicular hyperostosis

Isolated SCCH

Isolated succinate-CoQ reductase deficiency

Isolated mitochondrial respiratory chain complex II deficiency · Isolated succinate-coenzyme Q reductase deficiency

Isolated sulfite oxidase deficiency

ISOD · Sulfocysteinuria

Isolated tetra-amelia

Isolated total amelia

Isolated thyroid-stimulating hormone deficiency

Isolated thyrotropin deficiency · Isolated TSH deficiency

Isolated thyrotropin-releasing hormone deficiency

Isolated TRF deficiency · Isolated TRH deficiency

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 total cerebellar vermis agenesis

Isolated tracheoesophageal fistula

H-type tracheoesophageal fistula

Isolated transitional filum lipoma

Isolated tubular duplication of the esophagus