Rare Disease Library

PIK3CA-related overgrowth syndrome

PROS

Agnathia-holoprosencephaly-situs inversus syndrome

Alobar holoprosencephaly

Aprosencephaly

Aprosencephaly cerebellar dysgenesis

Aprosencephaly/atelencephaly spectrum

AP/AT spectum

Diprosopus

Diprosopia · Craniofacial duplication

Encephalopathy due to prosaposin deficiency

Combined prosaposin deficiency

Familial prostate cancer

Holoprosencephaly

HPE

Holoprosencephaly-caudal dysgenesis syndrome

Holoprosencephaly-craniosynostosis syndrome

Camero-Lituania-Cohen syndrome · Genoa syndrome

Holoprosencephaly-postaxial polydactyly syndrome

Pseudo-trisomy 13 syndrome

Holoprosencephaly-radial heart renal anomalies syndrome

Steinfeld syndrome

Leprosy

Lobar holoprosencephaly

Microform holoprosencephaly

Holoprosencephaly-like · Microform HPE

Midline interhemispheric variant of holoprosencephaly

MIH · MIH type HPE

Non-syndromic rectourethral fistula, prostatic type

Non-syndromic ARM with rectourethral fistula, prostatic type · Non-syndromic anorectal malformation with rectoprostatic fistula

OBSOLETE: Congenital nasal pyriform aperture stenosis with holoprosencephaly

OBSOLETE: Apertura pyriformis with holoprosencephaly

Pancreatic agenesis-holoprosencephaly syndrome

Phyllodes tumor of the prostate

Cystosarcoma phyllodes of the prostate · Phyllodes type of atypical prostatic hyperplasia

Semilobar holoprosencephaly

Septopreoptic holoprosencephaly

Septopreoptic HPE

XK aprosencephaly syndrome

Garcia-Lurie syndrome · XK syndrome