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EXPERIMENTAL FACTOR ONTOLOGY - ANNOTATIONS
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Term:
disorder of development or morphogenesis
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Accession:
EFO:MONDO:0021147
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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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Term
Annotations
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