Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
Autism spectrum disorder due to AUTS2 activator of transcription and developmental regulator deficiency |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
15q overgrowth syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
4 |
15q overgrowth syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
15q overgrowth syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
3 |
15q overgrowth syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
2 |
Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to mitochondrial transfer ribonucleic acid translation optimization 1 deficiency |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Thrombocythemia with distal limb defect |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
3 |
Facial dysmorphism, immunodeficiency, livedo, short stature syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Facial dysmorphism, immunodeficiency, livedo, short stature syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
2 |
Brachyolmia |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Trichodental syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Agenesis of left kidney co-occurrent with hypoplasia of right kidney |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Generalized junctional epidermolysis bullosa |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Extralobar bronchopulmonary sequestration |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Trigonocephaly with broad thumb syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Trigonocephaly with broad thumb syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
4 |
Trigonocephaly with broad thumb syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
2 |
Trigonocephaly with broad thumb syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
3 |
Agenesis of cerebellum and hydrocephalus syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Congenital arteriovenous malformation of small intestine |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Faun tail syndrome |
Occurrence |
False |
Congenital |
Inferred relationship |
Existential restriction modifier |
2 |
Weismann Netter syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Neurofibromatosis type 1 |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
2 |
Inherited arthrogryposis |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Kyphomelic dysplasia |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Communicating hydrocephalus co-occurrent and due to congenital agenesis of arachnoid villi |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Absence deformity of leg and congenital cataract syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Penile shaft hypospadias |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Hemifacial microsomia with radial defect syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Cleft palate with left cleft lip |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Coffin-Lowry syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
2 |
Bipartite ossification of centrum of sacral vertebra |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Retinal arteriovenous shunt |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Prominent glabella with microcephaly and hypogenitalism syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Adams-Oliver syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Systemic to coronary collateral artery |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
2 |
Congenital spinal meningocele |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Congenital spinal meningocele |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
2 |
Dystrophic epidermolysis bullosa nails only |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Dystrophic epidermolysis bullosa nails only |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
2 |
Osteopathia striata with cranial sclerosis |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Dual coronary orifice |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Congenital abnormality of atrioventricular valve leaflet in atrioventricular septal defect |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Porokeratosis of Mibelli, linear unilateral type |
Occurrence |
False |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Cutis laxa, autosomal recessive |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Blepharoptosis, myopia, ectopia lentis syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Kirman syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Craniomicromelic syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
3 |
Craniomicromelic syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Craniomicromelic syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
2 |
Congenital pontocerebellar hypoplasia type 4 |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Persistent cloaca |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
2 |
Persistent cloaca |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Congenital absence of esophagus with tracheoesophageal fistula |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
2 |
Incomplete ossification of clavicle |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Congenital malformation of ovaries and fallopian tubes |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
2 |
Congenital malformation of ovaries and fallopian tubes |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Intractable diarrhea with choanal atresia and eye anomaly syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
3 |
Intractable diarrhea with choanal atresia and eye anomaly syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
2 |
Intractable diarrhea with choanal atresia and eye anomaly syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Patent urachus |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Bent bone dysplasia group |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Polysomia |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Lingual ectopic tooth |
Occurrence |
False |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Anonychia with bizarre flexural pigmentation |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Intellectual disability, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
2 |
Aortico-left ventricular tunnel with aneurysm of intracardiac septal wall and aneurysm of extracardiac aortic wall |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Aortico-left ventricular tunnel with aneurysm of intracardiac septal wall and aneurysm of extracardiac aortic wall |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
2 |
Subpulmonary infundibulum |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Oculodentodigital syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
3 |
Acephalogaster |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Autosomal recessive cerebelloparenchymal disorder type 3 |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Duplication of eyebrow and syndactyly syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Duplication of eyebrow and syndactyly syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
2 |
Tuberous sclerosis syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Hydromyelocele with hydrocephalus |
Occurrence |
False |
Congenital |
Inferred relationship |
Existential restriction modifier |
3 |
Congenital extrahepatic portal-systemic shunt |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Midline cervical cleft |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Chondrodysplasia, dentinogenesis imperfecta, joint laxity syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Chondrodysplasia, dentinogenesis imperfecta, joint laxity syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
2 |
Agnathia, holoprosencephaly, situs inversus syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Osseous syndactyly lesser toes |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Multiple epiphyseal dysplasia Al-Gazali type |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Ectopic pancreas in duodenum |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Crowding of anterior mandibular teeth |
Occurrence |
False |
Congenital |
Inferred relationship |
Existential restriction modifier |
2 |
Microphakia |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Constriction ring of upper limb with lymphedema |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Wolf Hirschhorn syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Small intestine atresia and stenosis |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Incomplete ossification of ulna |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Septoparietal trabeculations |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Craniofacial digital and genital anomalies syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Craniofacial digital and genital anomalies syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
3 |
Craniofacial digital and genital anomalies syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
2 |
Trichodysplasia with amelogenesis imperfecta syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
2 |
Trichodysplasia with amelogenesis imperfecta syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Ectodermal dysplasia with nail defect |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Congenital koilonychia |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Iniencephaly |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
2 |
Ear auricle and external auditory canal absent |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Penile mid-shaft hypospadias |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |