disease has feature Thin upper lip vermilion Sparse scalp hair Short stature autosomal dominant disease syndromic intellectual disability trichorhinophalangeal syndrome type II https://github.com/monarch-initiative/mondo/issues/4948 https://github.com/monarch-initiative/mondo/issues/5588 https://www.malacards.org/card/trichorhinophalangeal_syndrome_type_ii_2 Langer-Giedon syndrome, also known as trichorhinophalangeal syndrome type 2, is a very rare, genetic, multiple congenital anomaly disorder characterized by bone abnormalities, distinctive facial features, multiple exostoses, and intellectual disability. Orphanet:502 NCIT:C75118 DOID:4998 MEDGEN:6009 trichorhinophalangeal syndrome type 2 trichorhinophalangeal syndrome, type II MESH:D015826 TRPS 2 chromosome 8Q24.1 deletion syndrome Langer Giedion syndrome GARD:0007801 ICD9:759.89 icd11.foundation:315453775 TRPS2 trichorhinophalangeal syndrome, type 2 monosomy 8q24.1 deletion 8q24.1 OMIM:150230 MONDO:0007874 Langer-Giedion syndrome SCTID:41069008 NORD:1788 Giedion-Langer syndrome UMLS:C0023003 MedDRA:10050638 multiple congenital anomalies/dysmorphic syndrome-intellectual disability partial deletion of the long arm of chromosome 8 trichorhinophalangeal syndrome