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EXPERIMENTAL FACTOR ONTOLOGY - ANNOTATIONS


Term:disorder of development or morphogenesis
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Accession:EFO:MONDO:0021147 term browser browse the term
Definition:Any disease or disorder that disrupts the process development of an anatomical structure. Can be due to genetic or environmental causes. Typically happens during embryogenesis, but also includes post-embryonic development.
Synonyms:exact_synonym: http://identifiers.org/medgen/1843482;   http://linkedlifedata.com/resource/umls/id/C0694457;   http://purl.bioontology.org/ontology/ICD10CM/Q00-Q99
 alt_id: MONDO:0021147
 xref: ICD10CM:Q00-Q99;   MEDGEN:1843482;   UMLS:C0694457
 external_ontology: disease_disrupts EFO:GO:0032502;   in_taxon EFO:NCBITaxon:9606



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  experimental factor 0
    material property 0
      disposition 0
        disease 0
          disorder of development or morphogenesis 0
            46,XY complete gonadal dysgenesis + 0
            Aicardi syndrome 0
            Aortic Coarctation + 0
            Berardinelli-Seip congenital lipodystrophy + 0
            Bloom syndrome 0
            CK syndrome 0
            Chudley-McCullough syndrome 0
            DNA ligase IV deficiency 0
            Fowler syndrome 0
            Jalili syndrome 0
            Joubert syndrome + 0
            L1 syndrome + 0
            Lowe-Kohn-Cohen syndrome 0
            Morgagni-Stewart-Morel syndrome 0
            Nance-Horan syndrome 0
            Noonan syndrome and Noonan-related syndrome + 0
            Rothmund-Thomson syndrome + 0
            T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency 0
            X-linked intellectual disability-corpus callosum agenesis-spastic quadriparesis syndrome 0
            amelogenesis imperfecta type 1G 0
            aniridia + 0
            anorectal malformation + 0
            anterior segment dysgenesis + 0
            aortic valve stenosis + 0
            atresia of small intestine 0
            atypical Werner syndrome 0
            autosomal recessive frontotemporal pachygyria 0
            axial mesodermal dysplasia spectrum 0
            bicornuate uterus 0
            blepharoptosis-cleft palate-ectrodactyly-dental anomalies syndrome 0
            bone development disease + 0
            brachydactyly + 0
            branchial arch disease + 0
            bronchogenic cyst 0
            bronchopulmonary dysplasia 0
            camptodactyly of fingers 0
            cardiac valvular defect, developmental 0
            cataract - congenital heart disease - neural tube defect syndrome 0
            cephalocele + 0
            cerebral cortical dysplasia + 0
            cleft lip and alveolus + 0
            cleft lip/palate + 0
            cleft palate-stapes fixation-oligodontia syndrome 0
            colonic atresia 0
            complex cortical dysplasia with other brain malformations + 0
            congenital achiasma 0
            congenital anomaly of cardiovascular system + 0
            congenital bilateral absence of vas deferens + 0
            congenital deformities of limbs + 0
            congenital elbow dislocation + 0
            congenital esophageal diverticulum 0
            congenital hydrocephalus + 0
            congenital knee dislocation + 0
            congenital patella dislocation + 0
            congenital primary megaureter + 0
            congenital short bowel syndrome + 0
            congenital shoulder dislocation 0
            congenital tricuspid malformation + 0
            corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome 0
            craniodiaphyseal dysplasia 0
            craniofacial dysplasia - osteopenia syndrome 0
            craniofacial dyssynostosis 0
            craniorachischisis 0
            deafness-oligodontia syndrome 0
            demyelinating disease + 0
            dentinogenesis imperfecta-short stature-hearing loss-intellectual disability syndrome 0
            developmental defect during embryogenesis + 0
            diencephalic-mesencephalic junction dysplasia 0
            distal symphalangism 0
            double uterus-hemivagina-renal agenesis syndrome 0
            duodenal atresia 0
            duplication of the pituitary gland 0
            duplication of urethra 0
            epibulbar lipodermoid-preauricular appendage-polythelia syndrome 0
            familial bicuspid aortic valve 0
            familial intestinal malrotation-facial anomalies syndrome 0
            familial isolated clinodactyly of fingers 0
            familial isolated congenital asplenia 0
            familial median cleft of the upper and lower lips 0
            familial omphalocele syndrome with facial dysmorphism 0
            familial osteodysplasia, Anderson type 0
            familial partial lipodystrophy, Dunnigan type 0
            familial primary pulmonary hypoplasia 0
            gingival fibromatosis-progressive deafness syndrome 0
            hereditary cardiac anomaly + 0
            hereditary gingival fibromatosis 0
            hereditary lethal multiple congenital anomalies/dysmorphic syndrome + 0
            high anorectal malformation 0
            horizontal gaze palsy with progressive scoliosis 0
            hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome 0
            hypohidrotic ectodermal dysplasia + 0
            hypospadias 0
            imperforate anus 0
            intermediate anorectal malformation 0
            isolated cerebellar hypoplasia/agenesis 0
            isolated cleft lip + 0
            isolated congenital digital clubbing 0
            keratinization disease + 0
            lissencephaly spectrum disorders + 0
            loose anagen syndrome + 0
            low anorectal malformation 0
            lower limb hypertrophy 0
            lung agenesis-heart defect-thumb anomalies syndrome 0
            macrocephaly-autism syndrome 0
            macrodactyly of fingers + 0
            macrodactyly of toes + 0
            medullary sponge kidney 0
            megalencephaly + 0
            megalodactyly 0
            microcephaly + 0
            microcephaly-polymicrogyria-corpus callosum agenesis syndrome 0
            mulibrey nanism 0
            multicystic dysplastic kidney + 0
            multiple intestinal atresia 0
            natal teeth-intestinal pseudoobstruction-patent ductus syndrome 0
            neurocristopathy + 0
            non-eruption of teeth-maxillary hypoplasia-genu valgum syndrome 0
            oculocerebral hypopigmentation syndrome, Cross type 0
            oculodental syndrome, Rutherfurd type 0
            odontomatosis-aortae esophagus stenosis syndrome 0
            otodental syndrome 0
            otofaciocervical syndrome 0
            overgrowth syndrome + 0
            pancreatic agenesis + 0
            penoscrotal transposition 0
            pericardial and diaphragmatic defect 0
            polydactyly + 0
            porencephaly-microcephaly-bilateral congenital cataract syndrome 0
            postaxial polydactyly-dental and vertebral anomalies syndrome 0
            precocious puberty + 0
            primary basilar invagination 0
            progeroid features-hepatocellular carcinoma predisposition syndrome 0
            progressive cerebello-cerebral atrophy 0
            progressive microcephaly-seizures-cortical blindness-developmental delay syndrome 0
            renal agenesis + 0
            renal dysplasia + 0
            renal hypoplasia + 0
            renal tubular dysgenesis of genetic origin 0
            spina bifida + 0
            steatocystoma multiplex-natal teeth syndrome 0
            steroid dehydrogenase deficiency-dental anomalies syndrome 0
            syndactyly + 0
            thumb deformity-alopecia-pigmentation anomaly syndrome 0
            torticollis-keloids-cryptorchidism-renal dysplasia syndrome 0
            upper limb hypertrophy 0
            uterine hypoplasia 0
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