has material basis in germline mutation in SH3PXD2B syndromic disease skin disorder arthropathy Frank-Ter Haar syndrome https://github.com/monarch-initiative/mondo/issues/4948 https://github.com/monarch-initiative/mondo/issues/5000 https://github.com/monarch-initiative/mondo/issues/5001 https://github.com/monarch-initiative/mondo/issues/9285 https://rarediseases.info.nih.gov/diseases/5138/frank-ter-haar-syndrome https://rarediseases.info.nih.gov/diseases/939/borrone-di-rocco-crovato-syndrome https://www.malacards.org/card/frank_ter_haar_syndrome_2 OMIM:211170 A syndrome defined by megalocornea, multiple skeletal anomalies, characteristic facial dysmorphism (wide fontanels, prominent forehead, hypertelorism, prominent eyes, full cheeks and micrognathia) and developmental delay. Borrone dermatocardioskeletal syndrome Borrone di Rocco Crovato syndrome DOID:0111789 Melnick-Needles syndrome, autosomal recessive autosomal recessive Melnick-Needles syndrome (formerly) megalocornea, multiple skeletal anomalies, and developmental delay MEDGEN:383652 SCTID:720958002 MONDO:0009579 GARD:0005138 FTHS MESH:C536577 OMIM:249420 Borrone Dermatocardioskeletal syndrome UMLS:C1855305 icd11.foundation:1643548765 Orphanet:137834 Ter Haar syndrome Frank Ter Haar syndrome MESH:C537274 Frank-Ter Haar syndrome otopalatodigital syndrome spectrum disorder filamin-related bone disorder