Rare Disease Library

Neurofibromatosis-Noonan syndrome

NFNS · Neurofibromatosis type 1-Noonan syndrome

17q11 microdeletion syndrome

Del(17)(q11) · Monosomy 17q11

Feingold syndrome type 1

Brunner-Winter syndrome type 1 · Digital anomalies with short palpebral fissures and atresia of esophagus or duodenum type 1

FG syndrome type 1

Opitz-Kaveggia syndrome

Full NF2-related schwannomatosis

Nonmosaic neurofibromatosis type 2 · Nonmosaic NF2-related schwannomatosis

Full schwannomatosis

Full NF3 · Full neurofibromatosis type 3

Genochondromatosis type 1

Hyaline fibromatosis syndrome

Legius syndrome

Nonmosaic Legius syndrome · NF1-like syndrome

Marfan syndrome type 1

MFS1

Mayer-Rokitansky-Küster-Hauser syndrome type 1

Congenital absence of uterus and vagina · MRKH syndrome type 1

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

Neurofibromatosis type 1

neurofibromatosis type I · NF-1

Neurofibromatosis/schwannomatosis

NF/SWN

Noonan syndrome

OBSOLETE: Neurofibromatosis

Usher syndrome type 1

USH1