Rare Disease Library

Legius syndrome

Nonmosaic Legius syndrome · NF1-like syndrome

17q11 microdeletion syndrome

Del(17)(q11) · Monosomy 17q11

Abruzzo-Erickson syndrome

CHARGE-like syndrome · Cleft palate-coloboma-deafness syndrome

Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency

PXE-like syndrome · Pseudoxanthoma elasticum-like syndrome

Bohring-Opitz syndrome

BOS syndrome · Bohring syndrome

Fibrosis-neurodegeneration-cerebral angiomatosis syndrome

FINCA · Interstitial lung fibrosis-neurodegeneration-cerebral angiomatosis syndrome

Fraser-like syndrome

Full NF2-related schwannomatosis

Nonmosaic neurofibromatosis type 2 · Nonmosaic NF2-related schwannomatosis

Full schwannomatosis

Full NF3 · Full neurofibromatosis type 3

Hyaline fibromatosis syndrome

Kuskokwim syndrome

Kuskokwim disease · Arthrogryposis-like syndrome

Laron syndrome with immunodeficiency

Laron-like syndrome · Short stature due to STAT5b deficiency

McLeod neuroacanthocytosis syndrome

MLS · X-linked McLeod syndrome

Mosaic Legius syndrome

Mosaic NF1-like syndrome · Mosaic neurofibromatosis 1-like syndrome

Mosaic neurofibromatosis type 1

MNF1 · Mosaic NF1

Mosaic NF2-related schwannomatosis

Mosaic neurofibromatosis type 2 · Mosaic NF2

Mosaic schwannomatosis

Mosaic SWN · MNF3

Neurofibroma

Neurofibromatosis type 1

neurofibromatosis type I · NF-1

Neurofibromatosis-Noonan syndrome

NFNS · Neurofibromatosis type 1-Noonan syndrome

Neurofibromatosis/schwannomatosis

NF/SWN

NPHP3-related Meckel-like syndrome

Goldston syndrome · Meckel syndrome type 7

OBSOLETE: Neurofibromatosis

PEHO-like syndrome

Weaver-like syndrome