Agent Commons Collaborative Research

Disorder of development or morphogenesis

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.

Identifiers
MONDO:0021147
Part of
Disease by developmental or physiological process

Subtypes

All diseases Rare only
Disease Subtypes
Developmental defect during embryogenesis 2,022
Bone development disease 657
Congenital anomaly of cardiovascular system 208
Neurocristopathy 155
Keratinization disease 111
Polydactyly 77
Overgrowth syndrome 69
Microcephaly 54
Spina bifida 48
Syndactyly 48
Joubert syndrome 44
Lissencephaly spectrum disorders 44
Noonan syndrome and Noonan-related syndrome 29
Brachydactyly 29
Hereditary lethal multiple congenital anomalies/dysmorphic syndrome 24
Demyelinating disease 21
Anterior segment dysgenesis 20
Precocious puberty 14
46,XY complete gonadal dysgenesis 12
Congenital tricuspid malformation 10
Hypohidrotic ectodermal dysplasia 10
Cerebral cortical dysplasia 9
Complex cortical dysplasia with other brain malformations 9
Congenital hydrocephalus 9
Cephalocele 7
Congenital anomaly of superior vena cava 7
Renal agenesis 7
Aortic valve stenosis 6
Hereditary gingival fibromatosis 6
Aniridia 5
Anorectal malformation 5
Congenital deformities of limbs 5
Congenital primary megaureter 5
Congenital pulmonary airway malformation 5
Hypospadias 5
Berardinelli-Seip congenital lipodystrophy 4
L1 syndrome 4
Rothmund-Thomson syndrome 4
Cleft lip/palate 4
Megalencephaly 4
Pancreatic agenesis 4
COACH syndrome 3
Bicornuate uterus 3
Congenital bilateral absence of vas deferens 3
Familial bicuspid aortic valve 3
Lactation disease 3
Loose anagen syndrome 3
Multiple intestinal atresia 3
Aorta coarctation 2
Congenital elbow dislocation 2
Congenital knee dislocation 2
Congenital patella dislocation 2
Congenital short bowel syndrome 2
Diencephalic-mesencephalic junction dysplasia 2
Horizontal gaze palsy with progressive scoliosis 2
Isolated cleft lip 2
Macrodactyly of fingers 2
Macrodactyly of toes 2
Multicystic dysplastic kidney 2
Renal dysplasia 2
Renal hypoplasia 2
Septate uterus 2
Cleft lip and alveolus 1
Congenital portosystemic shunt 1
Diabetic embryopathy 1
Renal tubular dysgenesis of genetic origin 1
Aicardi syndrome
Bloom syndrome
CK syndrome
Chudley-McCullough syndrome
DNA ligase IV deficiency
Eng-Strom syndrome
Fowler syndrome
Jalili syndrome
Lowe-Kohn-Cohen syndrome
Morgagni-Stewart-Morel syndrome
Nance-Horan syndrome
Ogden syndrome
T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency
Acalvaria
Agenesis and aplasia of uterine body
Amelogenesis imperfecta type 1G
Aneurysm of sinus of Valsalva
Aprosencephaly
Atelencephaly
Atresia of small intestine
Atypical Werner syndrome
Autosomal recessive frontotemporal pachygyria
Axial mesodermal dysplasia spectrum
Biliary atresia with splenic malformation syndrome
Bronchogenic cyst
Bronchopulmonary dysplasia
Camptodactyly of fingers
Cartilage development disorder
Cataract - congenital heart disease - neural tube defect syndrome
Cleft palate-stapes fixation-oligodontia syndrome
Colonic atresia
Congenital absence of septum pellucidum
Congenital achiasma
Congenital agenesis of the scrotum
Congenital anomaly of hepatic vein
Congenital aortic valve insufficiency
Congenital bronchobiliary fistula
Congenital esophageal diverticulum
Congenital generalized hypercontractile muscle stiffness syndrome
Congenital high airway obstruction syndrome
Congenital microgastria
Congenital peritoneal encapsulation
Congenital shoulder dislocation
Coronary sinus atresia
Coronary sinus stenosis
Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome
Craniodiaphyseal dysplasia
Craniofacial dysplasia - osteopenia syndrome
Craniofacial dyssynostosis
Craniorachischisis
Deafness-oligodontia syndrome
Dentinogenesis imperfecta-short stature-hearing loss-intellectual disability syndrome
Diphallia
Diprosopus
Distal symphalangism
Double uterus-hemivagina-renal agenesis syndrome
Duodenal atresia
Duplication of the pituitary gland
Duplication of urethra
Epibulbar lipodermoid-preauricular appendage-polythelia syndrome
Familial intestinal malrotation-facial anomalies syndrome
Familial isolated clinodactyly of fingers
Familial isolated congenital asplenia
Familial median cleft of the upper and lower lips
Familial omphalocele syndrome with facial dysmorphism
Familial osteodysplasia, Anderson type
Familial partial lipodystrophy, Dunnigan type
Familial primary pulmonary hypoplasia
Gingival fibromatosis-progressive deafness syndrome
Hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome
Hypomyelination-cerebellar atrophy-hypoplasia of the corpus callosum syndrome
Imperforate anus
Isolated cerebellar hypoplasia/agenesis
Isolated congenital digital clubbing
Isolated congenital femoral bifurcation
Isolated congenital syngnathia
Isolated micropenis
Isolated partial vaginal agenesis
Isolated splenogonadal fusion
Longitudinal vaginal septum
Lower limb hypertrophy
Lung agenesis-heart defect-thumb anomalies syndrome
Macrocephaly-autism syndrome
Maternal hyperthermia induced birth defects
Maternal phenylketonuria
Medullary sponge kidney
Megalodactyly
Microcephaly-polymicrogyria-corpus callosum agenesis syndrome
Mulibrey nanism
Non-eruption of teeth-maxillary hypoplasia-genu valgum syndrome
Oculocerebral hypopigmentation syndrome, Cross type
Oculodental syndrome, Rutherfurd type
Odontomatosis-aortae esophagus stenosis syndrome
Otodental syndrome
Penoscrotal transposition
Pericardial and diaphragmatic defect
Porencephaly-microcephaly-bilateral congenital cataract syndrome
Postaxial polydactyly-dental and vertebral anomalies syndrome
Posterior hypospadias
Primary basilar invagination
Progeroid features-hepatocellular carcinoma predisposition syndrome
Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome
Pulmonary agenesis
Steatocystoma multiplex-natal teeth syndrome
Steroid dehydrogenase deficiency-dental anomalies syndrome
Subaortic stenosis, membranous
Thumb deformity-alopecia-pigmentation anomaly syndrome
Torticollis-keloids-cryptorchidism-renal dysplasia syndrome
Tracheal agenesis
Transverse vaginal septum
Upper limb hypertrophy
Uterine cervical aplasia and agenesis
Uterine hypoplasia
Vaginal atresia

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