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Ontology Browser
Term:
Parent Terms Term With Siblings Child Terms
46,XY complete gonadal dysgenesis +  
Aicardi syndrome 
alopecia-epilepsy-pyorrhea-intellectual disability syndrome 
amelogenesis imperfecta type 1G 
ANE syndrome 
aniridia +  
anorectal malformation +   
anterior segment dysgenesis +  
Aortic Coarctation +  
aortic valve stenosis +   
atresia of small intestine 
atypical Werner syndrome 
autosomal dominant deafness - onychodystrophy syndrome 
autosomal recessive frontotemporal pachygyria 
axial mesodermal dysplasia spectrum 
Bartholin duct cyst 
Bartholin gland neoplasm +  
Berardinelli-Seip congenital lipodystrophy +  
bicornuate uterus 
blepharoptosis-cleft palate-ectrodactyly-dental anomalies syndrome 
Bloom syndrome 
bone development disease +   
brachydactyly +  
branchial arch disease +   
breast fibrocystic disease +   
breast neoplasm +   
bronchogenic cyst 
bronchopulmonary dysplasia  
camptodactyly of fingers 
cardiac valvular defect, developmental 
cataract - congenital heart disease - neural tube defect syndrome 
cephalocele +  
cerebral cortical dysplasia +  
Chudley-McCullough syndrome 
CK syndrome 
cleft lip and alveolus +  
cleft lip/palate +  
cleft palate-stapes fixation-oligodontia syndrome 
colonic atresia 
complex cortical dysplasia with other brain malformations +  
congenital achiasma 
congenital anomaly of cardiovascular system +   
congenital bilateral absence of vas deferens +  
congenital deformities of limbs +  
congenital elbow dislocation +  
congenital esophageal diverticulum 
congenital hydrocephalus +  
congenital knee dislocation +  
congenital patella dislocation +  
congenital primary megaureter +  
congenital short bowel syndrome +  
congenital shoulder dislocation 
congenital tricuspid malformation +  
corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome 
craniodiaphyseal dysplasia 
craniofacial dysplasia - osteopenia syndrome 
craniofacial dyssynostosis 
craniorachischisis 
cutaneous mycosis +   
cutis laxa +  
deafness-oligodontia syndrome 
demyelinating disease +   
dentinogenesis imperfecta-short stature-hearing loss-intellectual disability syndrome 
developmental defect during embryogenesis +   
diencephalic-mesencephalic junction dysplasia 
disorder of pilosebaceous unit +   
distal symphalangism 
DNA ligase IV deficiency 
double uterus-hemivagina-renal agenesis syndrome 
duodenal atresia 
duplication of the pituitary gland 
duplication of urethra 
epibulbar lipodermoid-preauricular appendage-polythelia syndrome 
familial atypical multiple mole melanoma syndrome 
familial bicuspid aortic valve 
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 
familial tumoral calcinosis +  
Fowler syndrome 
frontonasal dysplasia with alopecia and genital anomaly 
gingival fibromatosis-progressive deafness syndrome 
hereditary cardiac anomaly +  
hereditary gingival fibromatosis 
hereditary lethal multiple congenital anomalies/dysmorphic syndrome +  
high anorectal malformation 
horizontal gaze palsy with progressive scoliosis 
hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome 
hypohidrotic ectodermal dysplasia +  
hypospadias  
ichthyosis prematurity syndrome 
imperforate anus 
integumentary system benign neoplasm +   
integumentary system cancer +   
intermediate anorectal malformation 
isolated cerebellar hypoplasia/agenesis 
isolated cleft lip +  
isolated congenital digital clubbing 
Jalili syndrome 
Joubert syndrome +  
keratinization disease +   
keratoderma hereditarium mutilans 
L1 syndrome +  
lissencephaly spectrum disorders +  
loose anagen syndrome +  
low anorectal malformation 
Lowe-Kohn-Cohen syndrome 
lower limb hypertrophy 
lung agenesis-heart defect-thumb anomalies syndrome 
macrocephaly-autism syndrome 
macrodactyly of fingers +  
macrodactyly of toes +  
mandibulofacial dysostosis with alopecia 
medullary sponge kidney 
megalencephaly +  
megalodactyly 
microcephaly +  
microcephaly-polymicrogyria-corpus callosum agenesis syndrome 
Morgagni-Stewart-Morel syndrome 
mucosulfatidosis 
mulibrey nanism 
multicystic dysplastic kidney +  
multiple intestinal atresia 
nail disorder +   
Nance-Horan syndrome 
natal teeth-intestinal pseudoobstruction-patent ductus syndrome 
Neu-Laxova syndrome +  
neurocristopathy +   
non-eruption of teeth-maxillary hypoplasia-genu valgum syndrome 
Noonan syndrome and Noonan-related syndrome +  
oculocerebral hypopigmentation syndrome, Cross type 
oculodental syndrome, Rutherfurd type 
odontomatosis-aortae esophagus stenosis syndrome 
otodental syndrome 
otofaciocervical syndrome 
overgrowth syndrome +  
pancreatic agenesis +  
paraneoplastic cutaneous syndrome +  
peeling skin-leukonuchia-acral punctate keratoses-cheilitis-knuckle pads syndrome 
penoscrotal transposition 
pericardial and diaphragmatic defect 
polydactyly +  
porencephaly-microcephaly-bilateral congenital cataract syndrome 
postaxial polydactyly-dental and vertebral anomalies syndrome 
precocious puberty +   
primary basilar invagination 
progeroid features-hepatocellular carcinoma predisposition syndrome 
progressive cerebello-cerebral atrophy 
progressive microcephaly-seizures-cortical blindness-developmental delay syndrome 
Proteus-like syndrome 
pseudoxanthoma elasticum (inherited or acquired) +  
renal agenesis +   
renal dysplasia +  
renal hypoplasia +  
renal tubular dysgenesis of genetic origin 
Rombo syndrome 
Rothmund-Thomson syndrome +  
Sjogren-Larsson syndrome 
skin appendage disorder +   
skin disease +   
spina bifida +  
steatocystoma multiplex-natal teeth syndrome 
steroid dehydrogenase deficiency-dental anomalies syndrome 
subcutaneous tissue disorder +   
syndactyly +  
T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency 
thumb deformity-alopecia-pigmentation anomaly syndrome 
torticollis-keloids-cryptorchidism-renal dysplasia syndrome 
upper limb hypertrophy 
uterine hypoplasia 
X-linked ichthyosis syndrome +  
X-linked intellectual disability-corpus callosum agenesis-spastic quadriparesis syndrome 

Synonyms
Exact Synonyms: disorder of keratinization ;   http://identifiers.org/medgen/635020 ;   http://identifiers.org/snomedct/277905003 ;   http://linkedlifedata.com/resource/umls/id/C0475811
Alternate IDs: MONDO:0045011
Xrefs: MEDGEN:635020 ;   SCTID:277905003 ;   UMLS:C0475811
External Ontologys: disease_disrupts EFO:GO:0031424

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