ANTERIOR SEGMENT DYSGENESIS 1

ANTERIOR SEGMENT OCULAR DYSGENESIS

http://purl.bioontology.org/ontology/OMIM/107250

ANTERIOR SEGMENT OCULAR DYSGENESIS

ASOD

ANTERIOR SEGMENT MESENCHYMAL DYSGENESIS

ASMD

ASGD1

C1862839

C4551992

10q25

CTRCT11

CTPP4

ASGD1

PITX3

http://purl.bioontology.org/ontology/OMIM/MTHU053334

http://purl.bioontology.org/ontology/OMIM/MTHU053326

http://purl.bioontology.org/ontology/OMIM/MTHU066996

http://purl.bioontology.org/ontology/OMIM/MTHU010162

http://purl.bioontology.org/ontology/OMIM/MTHU067001

http://purl.bioontology.org/ontology/OMIM/MTHU067000

http://purl.bioontology.org/ontology/OMIM/MTHU066998

http://purl.bioontology.org/ontology/OMIM/MTHU066999

http://purl.bioontology.org/ontology/OMIM/MTHU053330

http://purl.bioontology.org/ontology/OMIM/MTHU053327

http://purl.bioontology.org/ontology/OMIM/MTHU067002

http://purl.bioontology.org/ontology/OMIM/MTHU053328

http://purl.bioontology.org/ontology/OMIM/MTHU053333

http://purl.bioontology.org/ontology/OMIM/MTHU053332

http://purl.bioontology.org/ontology/OMIM/MTHU036449

http://purl.bioontology.org/ontology/OMIM/MTHU066997

http://purl.bioontology.org/ontology/OMIM/MTHU053329

http://purl.bioontology.org/ontology/OMIM/MTHU053331

http://purl.bioontology.org/ontology/OMIM/MTHU042979

Phenotype description, molecular basis known.

603807

116150

107250

3

pound

ANTERIOR SEGMENT DYSGENESIS 1

Caused by mutation in the paired-like homeodomain transcription factor-3 gene (PITX3, 602669.0001) [MOLECULAR BASIS]

Histopathology findings from report of 1 patient [MISCELLANEOUS]

Markedly variable expressivity within families [MISCELLANEOUS]

Variable features present [MISCELLANEOUS]

T047

T019