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C0000768
has_associated_morphology
C0266399
Congenital Abnormality
Infantile uterus
Malformations of organs or body parts during development in utero.
A rare congenital urogenital tract malformation characterized by a small uterus of regular shape (simple uterine hypoplasia), an elongated uterus with normal fundus (elongated uterine hypoplasia), or an abnormally shaped uterus (malformative uterine hypoplasia). Symptoms may include primary amenorrhea, abdominal pain, ...
C0000768
has_associated_morphology
C0266400
Congenital Abnormality
Uterus parvicollis
Malformations of organs or body parts during development in utero.
null
C0000768
has_associated_morphology
C0266401
Congenital Abnormality
Subseptate Uterus
Malformations of organs or body parts during development in utero.
Partial septate uterus is a rare, non-syndromic uterovaginal malformation characterized by a uterus that has a longitudinal septum which extends from the uterine fundus and does not reach the internal cervical os (variable lengths and widths may be observed). Although frequently asymptomatic, an increased risk of poor ...
C0000768
has_associated_morphology
C0266402
Congenital Abnormality
Congenital prolapsed uterus
Malformations of organs or body parts during development in utero.
null
C0000768
has_associated_morphology
C0266403
Congenital Abnormality
Congenital anomaly of cervix
Malformations of organs or body parts during development in utero.
null
C0000768
has_associated_morphology
C0266413
Congenital Abnormality
Embryonic cyst of vagina
Malformations of organs or body parts during development in utero.
null
C0000768
has_associated_morphology
C0266414
Congenital Abnormality
Imperforate Vagina
Malformations of organs or body parts during development in utero.
A congenital birth defect characterized by the absence of a normal vaginal opening.
C0000768
has_associated_morphology
C0266415
Congenital Abnormality
Congenital anomaly of vulva
Malformations of organs or body parts during development in utero.
null
C0000768
has_associated_morphology
C0266416
Congenital Abnormality
Congenital cyst of vulva
Malformations of organs or body parts during development in utero.
null
C0000768
has_associated_morphology
C0266417
Congenital Abnormality
Congenital cyst of canal of Nuck
Malformations of organs or body parts during development in utero.
null
C0000768
has_associated_morphology
C0266418
Congenital Abnormality
Congenital absence of vulva
Malformations of organs or body parts during development in utero.
null
C0000768
has_associated_morphology
C0266421
Congenital Abnormality
Congenital anomaly of male genital system
Malformations of organs or body parts during development in utero.
null
C0000768
has_associated_morphology
C0266423
Congenital Abnormality
Congenital anomaly of testis
Malformations of organs or body parts during development in utero.
null
C0000768
has_associated_morphology
C0266432
Congenital Abnormality
Leydig cell agenesis
Malformations of organs or body parts during development in utero.
null
C0000768
has_associated_morphology
C0266433
Congenital Abnormality
Congenital anomaly of penis
Malformations of organs or body parts during development in utero.
null
C0000768
has_associated_morphology
C0266438
Congenital Abnormality
Paraspadias
Malformations of organs or body parts during development in utero.
null
C0000768
has_associated_morphology
C0266439
Congenital Abnormality
Congenital anomaly of prostate
Malformations of organs or body parts during development in utero.
null
C0000768
has_associated_morphology
C0266440
Congenital Abnormality
Congenital absence of prostate
Malformations of organs or body parts during development in utero.
null
C0000768
has_associated_morphology
C0266441
Congenital Abnormality
Congenital anomaly of spermatic cord
Malformations of organs or body parts during development in utero.
null
C0000768
has_associated_morphology
C0266443
Congenital Abnormality
Congenital anomaly of vas deferens
Malformations of organs or body parts during development in utero.
null
C0000768
has_associated_morphology
C0266495
Congenital Abnormality
Dural arteriovenous malformation
Malformations of organs or body parts during development in utero.
null
C0000768
has_associated_morphology
C0266583
Congenital Abnormality
Congenital anomaly of lacrimal gland
Malformations of organs or body parts during development in utero.
null
C0000768
has_associated_morphology
C0266589
Congenital Abnormality
Congenital ear anomaly NOS (disorder)
Malformations of organs or body parts during development in utero.
An abnormality of the ear. [https://orcid.org/0000-0002-0736-9199]
C0000768
has_associated_morphology
C0266616
Congenital Abnormality
Congenital absence of eustachian tube
Malformations of organs or body parts during development in utero.
null
C0000768
has_associated_morphology
C0266621
Congenital Abnormality
Unilateral congenital macrostomia
Malformations of organs or body parts during development in utero.
null
C0000768
has_associated_morphology
C0266622
Congenital Abnormality
Bilateral congenital macrostomia
Malformations of organs or body parts during development in utero.
null
C0000768
has_associated_morphology
C0266628
Congenital Abnormality
Fistula colli congenita
Malformations of organs or body parts during development in utero.
null
C0000768
has_associated_morphology
C0266642
Congenital Abnormality
Situs ambiguus
Malformations of organs or body parts during development in utero.
Congenital deformity in which the internal organs of the THORAX and the ABDOMEN are abnormally arranged across the mediolateral body axis.
C0000768
has_associated_morphology
C0266658
Congenital Abnormality
Autositic twin of asymmetrical conjoined twins
Malformations of organs or body parts during development in utero.
null
C0000768
has_associated_morphology
C0266659
Congenital Abnormality
Parasitic twin of asymmetrical conjoined twins
Malformations of organs or body parts during development in utero.
null
C0000768
has_associated_morphology
C0266660
Congenital Abnormality
Triplet monster, NOS
Malformations of organs or body parts during development in utero.
null
C0000768
has_associated_morphology
C0266661
Congenital Abnormality
Polysomatous monster, NOS
Malformations of organs or body parts during development in utero.
null
C0000768
has_associated_morphology
C0266665
Congenital Abnormality
Single monster, NOS
Malformations of organs or body parts during development in utero.
null
C0000768
has_associated_morphology
C0266667
Congenital Abnormality
Cyclocephaly
Malformations of organs or body parts during development in utero.
A rare congenital abnormality characterized by the failure of the embryonic prosencephalon to separate the eye orbit into two distinct cavities. Facial features tend to be absent although a proboscis has been seen to develop in conjunction.
C0000768
has_associated_morphology
C0266668
Congenital Abnormality
Cyclops hypognathus
Malformations of organs or body parts during development in utero.
null
C0000768
has_associated_morphology
C0266669
Congenital Abnormality
Opocephalus
Malformations of organs or body parts during development in utero.
null
C0000768
has_associated_morphology
C0266673
Congenital Abnormality
Monster with cranial anomalies, NOS
Malformations of organs or body parts during development in utero.
null
C0000768
has_associated_morphology
C0266675
Congenital Abnormality
Atretocephalus
Malformations of organs or body parts during development in utero.
null
C0000768
has_associated_morphology
C0266676
Congenital Abnormality
Agnathus (disorder)
Malformations of organs or body parts during development in utero.
null
C0000768
has_associated_morphology
C0266677
Congenital Abnormality
Synotus
Malformations of organs or body parts during development in utero.
A congenital malformation characterized by the union or approximation of the ears in front of the neck, often accompanied by the absence or defective development of the lower jaw. [https://orcid.org/0009-0006-4530-3154]
C0000768
has_associated_morphology
C0266678
Congenital Abnormality
Derencephalus
Malformations of organs or body parts during development in utero.
null
C0000768
has_associated_morphology
C0266679
Congenital Abnormality
Cebocephaly
Malformations of organs or body parts during development in utero.
A congenital abnormality characterized by a malformation of the head. The eyes are hypoteleric and the nose may be absent or misshapen (small, flattened, single nostril) and defective.
C0000768
has_associated_morphology
C0266680
Congenital Abnormality
Ethmocephalus
Malformations of organs or body parts during development in utero.
Ethmocephaly is the rarest form of holoprosencephaly, which occurs due to an incomplete cleavage of the forebrain. Clinically, the disease presents with a proboscis, hypotelorism, microphthalmos and malformed ears. [https://orcid.org/0000-0002-0003-6754, PMID:23248551]
C0000768
has_associated_morphology
C0266681
Congenital Abnormality
Omocephalus
Malformations of organs or body parts during development in utero.
null
C0000768
has_associated_morphology
C0266682
Congenital Abnormality
Celosomus
Malformations of organs or body parts during development in utero.
Congenital protrusion of the abdominal or thoracic viscera, usually with a defect of the sternum and ribs as well as of the abdominal walls. [https://orcid.org/0009-0006-4530-3154]
C0000768
has_associated_morphology
C0266684
Congenital Abnormality
Fetus in fetu
Malformations of organs or body parts during development in utero.
Rare abnormality where a fetal part of an identical twin that stopped developing during gestation is found within a normally developing fetus. It is considered a TWIN PREGNANCY complication.
C0000768
has_associated_morphology
C0266690
Congenital Abnormality
Thoracodelphus
Malformations of organs or body parts during development in utero.
null
C0000768
has_associated_morphology
C0266691
Congenital Abnormality
Pygodidymus
Malformations of organs or body parts during development in utero.
null
C0000768
has_associated_morphology
C0266695
Congenital Abnormality
Monocephalus (disorder)
Malformations of organs or body parts during development in utero.
null
C0000768
has_associated_morphology
C0266696
Congenital Abnormality
Monocephalus tetrapus dibrachius
Malformations of organs or body parts during development in utero.
null
C0000768
has_associated_morphology
C0266697
Congenital Abnormality
Monocephalus tripus dibrachius
Malformations of organs or body parts during development in utero.
null
C0000768
has_associated_morphology
C0266698
Congenital Abnormality
Syncephalus
Malformations of organs or body parts during development in utero.
null
C0000768
has_associated_morphology
C0266699
Congenital Abnormality
Deradelphus
Malformations of organs or body parts during development in utero.
null
C0000768
has_associated_morphology
C0266700
Congenital Abnormality
Janiceps (disorder)
Malformations of organs or body parts during development in utero.
null
C0000768
has_associated_morphology
C0266701
Congenital Abnormality
Anakatadidymus
Malformations of organs or body parts during development in utero.
null
C0000768
has_associated_morphology
C0266702
Congenital Abnormality
Gastrothoracopagus
Malformations of organs or body parts during development in utero.
null
C0000768
has_associated_morphology
C0266703
Congenital Abnormality
Thoracodidymus
Malformations of organs or body parts during development in utero.
null
C0000768
has_associated_morphology
C0266704
Congenital Abnormality
Thoracopagus
Malformations of organs or body parts during development in utero.
null
C0000768
has_associated_morphology
C0266707
Congenital Abnormality
Thoracoparacephalus
Malformations of organs or body parts during development in utero.
null
C0000768
has_associated_morphology
C0266709
Congenital Abnormality
Omphaloangiopagus
Malformations of organs or body parts during development in utero.
null
C0000768
has_associated_morphology
C0266712
Congenital Abnormality
Katadidymus
Malformations of organs or body parts during development in utero.
null
C0000768
has_associated_morphology
C0266713
Congenital Abnormality
Heterodymus
Malformations of organs or body parts during development in utero.
null
C0000768
has_associated_morphology
C0266723
Congenital Abnormality
Compound monster, NOS
Malformations of organs or body parts during development in utero.
null
C0000768
has_associated_morphology
C0266726
Congenital Abnormality
Thoracomelus
Malformations of organs or body parts during development in utero.
null
C0000768
has_associated_morphology
C0266727
Congenital Abnormality
Ischiomelus
Malformations of organs or body parts during development in utero.
null
C0000768
has_associated_morphology
C0266728
Congenital Abnormality
Pygomelus
Malformations of organs or body parts during development in utero.
null
C0000768
has_associated_morphology
C0266730
Congenital Abnormality
Dicheirus (disorder)
Malformations of organs or body parts during development in utero.
null
C0000768
has_associated_morphology
C0266731
Congenital Abnormality
Diprosopus
Malformations of organs or body parts during development in utero.
Diprosopus is a rare, life-threatening developmental defect during embryogenesis, and a subtype of conjoined twins, characterized by partial or complete duplication of the facial structures on a single head, neck, trunk and body. It may be associated with congenital anomalies involving the cardiovascular, gastrointesti...
C0000768
has_associated_morphology
C0266732
Congenital Abnormality
Diprosopus tetrophthalmus
Malformations of organs or body parts during development in utero.
null
C0000768
has_associated_morphology
C0266733
Congenital Abnormality
Cephalodiprosopus
Malformations of organs or body parts during development in utero.
null
C0000768
has_associated_morphology
C0266734
Congenital Abnormality
Opodidymus
Malformations of organs or body parts during development in utero.
null
C0000768
has_associated_morphology
C0266738
Congenital Abnormality
Diplopodia
Malformations of organs or body parts during development in utero.
null
C0000768
has_associated_morphology
C0266739
Congenital Abnormality
Pygoamorphus
Malformations of organs or body parts during development in utero.
null
C0000768
has_associated_morphology
C0266743
Congenital Abnormality
Heterologous chimera
Malformations of organs or body parts during development in utero.
null
C0000768
has_associated_morphology
C0266744
Congenital Abnormality
Homologous chimera
Malformations of organs or body parts during development in utero.
null
C0000768
has_associated_morphology
C0266745
Congenital Abnormality
Isologous chimera
Malformations of organs or body parts during development in utero.
null
C0000768
has_associated_morphology
C0266792
Congenital Abnormality
Vascular anomaly of umbilical cord
Malformations of organs or body parts during development in utero.
null
C0000768
has_associated_morphology
C0266793
Congenital Abnormality
Arterial anomaly of umbilical cord
Malformations of organs or body parts during development in utero.
null
C0000768
has_associated_morphology
C0266794
Congenital Abnormality
Venous anomaly of umbilical cord
Malformations of organs or body parts during development in utero.
null
C0000768
has_associated_morphology
C0266797
Congenital Abnormality
Single vessel of umbilical cord
Malformations of organs or body parts during development in utero.
null
C0000768
has_associated_morphology
C0267023
Congenital Abnormality
Fistula of lip
Malformations of organs or body parts during development in utero.
null
C0000768
has_associated_morphology
C0268301
Congenital Abnormality
Reifenstein Syndrome
Malformations of organs or body parts during development in utero.
A disorder also known as partial androgen insensitivity syndrome (PAIS). These patients exhibit partial resistance to androgenic and metabolic effects of TESTOSTERONE.
C0000768
has_associated_morphology
C0268357
Congenital Abnormality
Osteogenesis imperfecta, type 1A
Malformations of organs or body parts during development in utero.
null
C0000768
has_associated_morphology
C0268420
Congenital Abnormality
Familial arthrogryposis-cholestatic hepatorenal syndrome
Malformations of organs or body parts during development in utero.
null
C0000768
has_associated_morphology
C0269238
Congenital Abnormality
Female infertility due to structural congenital anomaly of cervix
Malformations of organs or body parts during development in utero.
null
C0000768
has_associated_morphology
C0269241
Congenital Abnormality
Female infertility due to structural congenital anomaly of vagina
Malformations of organs or body parts during development in utero.
null
C0000768
has_associated_morphology
C0269727
Congenital Abnormality
Congenital abnormality of uterus, affecting pregnancy
Malformations of organs or body parts during development in utero.
null
C0000768
has_associated_morphology
C0269728
Congenital Abnormality
Double uterus affecting pregnancy
Malformations of organs or body parts during development in utero.
null
C0000768
has_associated_morphology
C0269765
Congenital Abnormality
Central nervous system malformation in fetus affecting obstetrical care
Malformations of organs or body parts during development in utero.
null
C0000768
has_associated_morphology
C0269767
Congenital Abnormality
Fetal or suspected fetal hydrocephalus affecting management of mother
Malformations of organs or body parts during development in utero.
null
C0000768
has_associated_morphology
C0270972
Congenital Abnormality
Cornelia De Lange Syndrome
Malformations of organs or body parts during development in utero.
A syndrome characterized by growth retardation, severe MENTAL RETARDATION, short stature, a low-pitched growling cry, brachycephaly, low-set ears, webbed neck, carp mouth, depressed nasal bridge, bushy eyebrows meeting at the midline, hirsutism, and malformations of the hands. The condition may occur sporadically or be...
C0000768
has_associated_morphology
C0271760
Congenital Abnormality
Lingual Goiter
Malformations of organs or body parts during development in utero.
Pathological enlargement of the LINGUAL THYROID, ectopic thyroid tissue at the base of the TONGUE. It may cause upper AIRWAY OBSTRUCTION; DYSPHAGIA; or HYPOTHYROIDISM symptoms.
C0000768
has_associated_morphology
C0272314
Congenital Abnormality
Capillary fragility abnormality
Malformations of organs or body parts during development in utero.
null
C0000768
has_associated_morphology
C0276380
Congenital Abnormality
Akabane virus disease
Malformations of organs or body parts during development in utero.
null
C0000768
has_associated_morphology
C0278457
Congenital Abnormality
Indeterminate sex
Malformations of organs or body parts during development in utero.
Outer genital organs are not visually male or female.
C0000768
has_associated_morphology
C0300948
Congenital Abnormality
Caudal Regression Syndrome
Malformations of organs or body parts during development in utero.
A rare congenital malformation of the lower spinal segments characterized by a high truncated conus with either aplasia or hypoplasia of the sacrum and lumbar spine. Coexisting malformations of gastrointestinal, genitourinary, skeletal, nervous system are commonly described.
C0000768
has_associated_morphology
C0311242
Congenital Abnormality
Gingival odontogenic cyst
Malformations of organs or body parts during development in utero.
An odontogenic cyst found in the alveolar mucosa. (WHO 2017)
C0000768
possibly_equivalent_to
C0332447
Congenital Abnormality
Morphologically abnormal structure (morphologic abnormality)
Malformations of organs or body parts during development in utero.
null
C0000768
has_associated_morphology
C0332965
Congenital Abnormality
Congenital arteriovenous fistula
Malformations of organs or body parts during development in utero.
An abnormal, epithelial-lined connection between an artery and vein that is present at the time of birth.
C0000768
has_associated_morphology
C0332994
Congenital Abnormality
Hydatid cyst of Morgagni - male
Malformations of organs or body parts during development in utero.
null