Rare Disease Library

Retinitis punctata albescens

RPA

Chondrodysplasia punctata, tibial-metacarpal type

Deafness-genital anomalies-metacarpal and metatarsal synostosis syndrome

Hearing loss-genital anomalies-metacarpal and metatarsal synostosis syndrome · Pfeiffer-Kapferer syndrome

Familial isolated hyperparathyroidism

FIHPT

Familial primary hyperparathyroidism

Genetic hyperparathyroidism

Hyperparathyroidism-jaw tumor syndrome

HPT-JT

Lissencephaly type 3-metacarpal bone dysplasia syndrome

Neonatal severe primary hyperparathyroidism

NSHPT

Nephropathy-deafness-hyperparathyroidism syndrome

Edwards-Patton-Dilly syndrome · Nephropathy-hearing loss-hyperparathyroidism syndrome

Rare hyperparathyroidism

Short fifth metacarpals-insulin resistance syndrome

Tarsal-carpal coalition syndrome