has material basis in germline mutation in SMCHD1 arhinia, choanal atresia, and microphthalmia https://github.com/monarch-initiative/mondo/issues/7813 https://github.com/monarch-initiative/mondo/issues/9882 https://rarediseases.info.nih.gov/diseases/8755/arhinia-choanal-atresia-microphthalmia https://www.malacards.org/card/bosma_arhinia_microphthalmia_syndrome arhinia choanal atresia microphthalmia MESH:C537429 BAMS Gifford-Bosma syndrome Orphanet:2250 MEDGEN:355084 Bosma syndrome Bosma Arhinia Microphthalmia Syndrome Bosma arhinia-microphthalmia syndrome Bosma-Henkin-Christiansen syndrome Bosma Henkin Christiansen syndrome OMIM:603457 hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome BAM syndrome MONDO:0011323 Bosma arhinia microphthalmia syndrome arhinia, choanal atresia, microphthalmia, and hypogonadotropic hypogonadism Ruprecht Majewski syndrome Any syndromic disease characterized by severe hypoplasia of the nose and eyes, palatal abnormalities, deficient taste and smell, inguinal hernias, hypogonadotropic hypogonadism with cryptorchidism, and normal intelligence that occurs due to variation in the SMCHD1 gene. GARD:0027263 UMLS:C1863878 SCTID:720511000 arrhinia-choanal atresia-microphthalmia syndrome Orphanet:1135 congenital absence of nose and anterior nasopharynx multiple congenital anomalies/dysmorphic syndrome without intellectual disability congenital hypogonadotropic hypogonadism