has material basis in germline mutation in EBP X-linked chondrodysplasia punctata X-linked ichthyosis syndrome chondrodysplasia punctata X-linked chondrodysplasia punctata 2 https://github.com/monarch-initiative/mondo/issues/2114 https://github.com/monarch-initiative/mondo/issues/3906 https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/4948 https://github.com/monarch-initiative/mondo/issues/6749 https://rarediseases.info.nih.gov/diseases/6189/chondrodysplasia-punctata-2-x-linked-dominant https://www.malacards.org/card/chondrodysplasia_punctata_2_x_linked_dominant_2 https://www.malacards.org/card/x_linked_chondrodysplasia_punctata_2 chondrodysplasia punctata, X-linked dominant, X-linked dominant CDPXD Orphanet:35173 A rare genodermatosis with great phenotypic variation and characterized most commonly by ichthyosis, chondrodysplasia punctata (CDP), asymmetric shortening of the limbs, cataracts and short stature. OMIM:302960 CDPX2 Conrad Hunermann Happle syndrome UMLS:C0282102 Conradi-Hunermann syndrome NANDO:1200630 chondrodysplasia punctata 2 X-linked dominant GARD:0006189 Conradi Hünermann Syndrome Conradi-Hunermann-Happle syndrome NORD:1005 DOID:0080352 MEDGEN:79381 chondrodysplasia punctata 2, X-linked dominant NANDO:2201357 MONDO:0020603 chondrodysplasia punctata caused by mutation in EBP X-linked chondrodysplasia punctata type 2 Happle syndrome EBP chondrodysplasia punctata Conradi Hunermann syndrome Conradi-Hünermann-Happle syndrome hereditary skin disorder