Peter Robinson

Cranium bifidum occultum, also known as Catlin mark, is a congenital midline skull defect presenting as an enlarged posterior fontanelle in the upper posterior angle of the parietal bone close...

Cranium bifidum tends to resolve into distinct enlarged parietal foramina over the first few years of life through the midline ossification of a central bridge of bone bisecting the defect...

See also https://github.com/obophenotype/human-phenotype-ontology/issues/7671 --

added the comment/definition to Cranium bifidum occultum

I think that we should represent treatments with phenopackets. This is a slightly difficult concept but I do not think it would be good for HPO right now. Thanks @PaulNSchofield

ACTL6A is not considered to be a disease gene in OMIM (https://omim.org/entry/604958?search=actl6a&highlight=actl6a) However, it is one of many genes listed without provenance in ORPHA (https://www.orpha.net/consor/cgi-bin/Disease_Search.php?lng=EN&data_id=27491&Disease_Disease_Search_diseaseGroup=ACTL6A&Disease_Disease_Search_diseaseType=Gen&Disease(s)/group%20of%20diseases=Non-specific-syndromic-intellectual-disability&title=Non-specific%20syndromic%20intellectual%20disability&search=Disease_Search_Simple). @drseb Is the ACTL6A coming...

I see this article -- https://pubmed.ncbi.nlm.nih.gov/28649782/ I reported this to OMIM, and once they have created an ID we can add annotations. Our current pipeline is dependent on this Is...

Parent [Optic neuritis HP:0100653](https://hpo.jax.org/app/browse/term/HP:0100653) def: Optic papillitis is a form of optic neuritis localized at the optic nerve head. Papillitis refers to optic neuritis with involvement of the intraocular portion...

After discussions with @Sukramg it seems that the actual phenotypic appearance of papillitis cannot be distinguished from papilledema, and basically the "itis" is an inference from other signs in the...

added as RELATED SYNONYM