Rare Disease Intelligence

Isolated female hypospadias is a developmental condition affecting the external genital anatomy in individuals with female sex. It is characterized by...

Isolated filum lipoma is a rare dysraphic condition characterized by the abnormal infiltration of fatty tissue into the filum terminale, which becomes...

Isolated growth hormone deficiency type IA is an inherited endocrine disorder caused by null mutations in the GH1 gene on chromosome 17q23.3. This con...

Isolated growth hormone deficiency type IB is a condition that affects growth and development, leading to short stature and significantly delayed bone...

Isolated growth hormone deficiency type II is an endocrine condition that primarily affects growth due to insufficient production of growth hormone. T...

Isolated growth hormone deficiency type III is a condition that affects both growth and immune function. It is characterized by consistently observed...

Isolated growth hormone deficiency, type 4 is a condition affecting the endocrine system, primarily characterized by severe short stature. It is cause...

Isolated growth hormone deficiency, type 5 is a condition affecting pituitary hormone production that significantly impacts growth and development. It...