Rare Disease Library

Isolated filum lipoma

Lipoma of the filum terminale

Isolated focal cortical dysplasia

Epilepsy due to FCD

Isolated focal cortical dysplasia type I

FCD type I

Isolated focal cortical dysplasia type Ia

FCD type Ia

Isolated focal cortical dysplasia type Ib

FCD type Ib

Isolated focal cortical dysplasia type Ic

FCD type Ic

Isolated focal cortical dysplasia type II

Cortical dysplasia, Taylor type · FCD type II

Isolated focal cortical dysplasia type IIa

FCD type IIa

Isolated focal cortical dysplasia type IIb

FCD type IIb

Isolated focal non-epidermolytic palmoplantar keratoderma

Isolated focal palmoplantar keratoderma

Isolated focal PPK · Isolated focal keratosis palmoplantaris

Isolated follicle stimulating hormone deficiency

Isolated FSH deficiency

Isolated foveal hypoplasia

Isolated gallbladder duplication

Isolated gastric duplication

Isolated stomach duplication

Isolated generalized anhidrosis with normal sweat glands

Isolated growth hormone deficiency type IA

Congenital IGHD type IA · Congenital isolated GH deficiency type IA

Isolated growth hormone deficiency type IB

Congenital IGHD type IB · Congenital isolated GH deficiency type IB

Isolated growth hormone deficiency type II

Congenital IGHD type II · Congenital isolated GH deficiency type II

Isolated growth hormone deficiency type III

Congenital IGHD type III · Congenital isolated GH deficiency type III

Isolated growth hormone deficiency type IV

Isolated hair shaft abnormality

Isolated hemihyperplasia

Hemi 3 syndrome · Hemicorporal hypertrophy

Isolated hereditary congenital facial paralysis

Isolated hereditary giant platelet disorder

Isolated inherited giant platelet disorder · Isolated inherited macrothrombocytopenia

Isolated humeral agenesis/hypoplasia

Isolated humeral intercalary meromelia · Isolated congenital absence of humerus

Isolated humero-radial synostosis

Isolated congenital humeroradial fusion

Isolated humero-radio-ulnar synostosis

Isolated congenital humero-radioulnar fusion

Isolated humero-ulnar synostosis

Isolated congenital humeroulnar fusion

Isolated hyperchlorhidrosis

Carbonic anhydrase XII deficiency

Isolated hyperphalangy

Supernumerary phalanx · Isolated congenital supernumerary phalanges

Isolated hypoplasia of thumb

Isolated congenital thumb hypodactyly · Isolated congenital thumb oligodactyly

Isolated idiopathic anterior uveitis

Isolated IAU

Isolated iridoschisis

Isolated jejuno-ileal duplication

Isolated duplication of the jejunum and ileum

Isolated Joubert syndrome

CPD IV · Cerebelloparenchymal disorder IV

Isolated Klippel-Feil syndrome

Congenital cervical vertebral fusion · Congenital fused cervical segments

Isolated left bronchial isomerism

Left bronchial isomerism without heterotaxy

Isolated lissencephaly type 1 without known genetic defects

Isolated lower lip fistula

Isolated lower lip pits · Non-syndromic familial congenital lower lip pits

Isolated megalencephaly

Isolated megalopapilla

Isolated melanotic schwannoma

Isolated melanocytic schwannoma

Isolated mesenteric vein thrombosis

Isolated micronodular adrenocortical disease

i-MAD

Isolated microphthalmia-anophthalmia-coloboma

Isolated anophthalmia-microphthalmia syndrome

Isolated microspherophakia

Isolated multiple intestinal atresia