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C0000768
has_associated_morphology
C0431420
Congenital Abnormality
Vein of Galen aneurysm
Malformations of organs or body parts during development in utero.
Vein of Galen aneurysmal malformation is a choroidal type of arteriovenous malformation that develops between 6 and 11 weeks of gestation. It results from 1 or more arteriovenous fistulas shunting blood toward the prosencephalic vein of Markowski, the embryonic precursor of the vein of Galen. This abnormal shunt leads ...
C0000768
has_associated_morphology
C0431421
Congenital Abnormality
Congenital malformation of the meninges
Malformations of organs or body parts during development in utero.
null
C0000768
has_associated_morphology
C0431438
Congenital Abnormality
Congenital malformation of eye, ear and neck
Malformations of organs or body parts during development in utero.
null
C0000768
has_associated_morphology
C0431446
Congenital Abnormality
Congenital malformation of the eyebrow
Malformations of organs or body parts during development in utero.
null
C0000768
has_associated_morphology
C0431447
Congenital Abnormality
Synophrys
Malformations of organs or body parts during development in utero.
Meeting of the medial eyebrows in the midline. [PMID:19125427]
C0000768
has_associated_morphology
C0431448
Congenital Abnormality
Absent eyebrow
Malformations of organs or body parts during development in utero.
Absence of the eyebrow. [https://orcid.org/0000-0002-0736-9199]
C0000768
has_associated_morphology
C0431449
Congenital Abnormality
Double eyebrow
Malformations of organs or body parts during development in utero.
This may present as a partial or complete duplication of the eyebrows. [https://orcid.org/0009-0006-4530-3154]
C0000768
has_associated_morphology
C0431453
Congenital Abnormality
Posterior chamber vascular anomalies NOS
Malformations of organs or body parts during development in utero.
null
C0000768
has_associated_morphology
C0431520
Congenital Abnormality
Congenital stenosis of choanae
Malformations of organs or body parts during development in utero.
null
C0000768
has_associated_morphology
C0431521
Congenital Abnormality
Midline fissured, notched and cleft nose
Malformations of organs or body parts during development in utero.
null
C0000768
has_associated_morphology
C0431522
Congenital Abnormality
Congenital fissure of nose
Malformations of organs or body parts during development in utero.
null
C0000768
has_associated_morphology
C0431530
Congenital Abnormality
Congenital malformation of trachea and bronchus
Malformations of organs or body parts during development in utero.
null
C0000768
has_associated_morphology
C0431551
Congenital Abnormality
Congenital malformation of tongue, mouth and pharynx
Malformations of organs or body parts during development in utero.
null
C0000768
has_associated_morphology
C0431552
Congenital Abnormality
Other mouth and pharynx anomalies NOS
Malformations of organs or body parts during development in utero.
null
C0000768
has_associated_morphology
C0431553
Congenital Abnormality
Other specified congenital anomalies of mouth and pharynx
Malformations of organs or body parts during development in utero.
null
C0000768
has_associated_morphology
C0431554
Congenital Abnormality
Other pharynx anomalies NOS
Malformations of organs or body parts during development in utero.
null
C0000768
has_associated_morphology
C0431555
Congenital Abnormality
Congenital pharyngeal polyp
Malformations of organs or body parts during development in utero.
null
C0000768
has_associated_morphology
C0431556
Congenital Abnormality
Other mouth anomalies NOS
Malformations of organs or body parts during development in utero.
null
C0000768
has_associated_morphology
C0431557
Congenital Abnormality
Flat palate
Malformations of organs or body parts during development in utero.
null
C0000768
has_associated_morphology
C0431560
Congenital Abnormality
Congenital cleft tongue
Malformations of organs or body parts during development in utero.
null
C0000768
has_associated_morphology
C0431564
Congenital Abnormality
Lobulated tongue
Malformations of organs or body parts during development in utero.
Multiple indentations and/or elevations on the edge and/or surface of the tongue producing an irregular surface contour. [PMID:19125428]
C0000768
has_associated_morphology
C0431565
Congenital Abnormality
Hamartoma of tongue
Malformations of organs or body parts during development in utero.
A benign (noncancerous) tumorlike malformation made up of an abnormal mixture of cells and tissues that originates in the tongue. [https://orcid.org/0000-0002-0736-9199, PMID:17667541]
C0000768
has_associated_morphology
C0431566
Congenital Abnormality
Congenital malformation of salivary glands and ducts
Malformations of organs or body parts during development in utero.
null
C0000768
has_associated_morphology
C0431567
Congenital Abnormality
Other anomalies of salivary glands or ducts
Malformations of organs or body parts during development in utero.
null
C0000768
has_associated_morphology
C0431568
Congenital Abnormality
Displacement of Wharton's duct
Malformations of organs or body parts during development in utero.
null
C0000768
has_associated_morphology
C0431570
Congenital Abnormality
Accessory salivary gland or duct
Malformations of organs or body parts during development in utero.
null
C0000768
has_associated_morphology
C0431571
Congenital Abnormality
Accessory salivary duct
Malformations of organs or body parts during development in utero.
null
C0000768
has_associated_morphology
C0431572
Congenital Abnormality
Congenital palato-esophageal incoordination
Malformations of organs or body parts during development in utero.
null
C0000768
has_associated_morphology
C0431574
Congenital Abnormality
Unspecified anomalies of mouth and pharynx
Malformations of organs or body parts during development in utero.
null
C0000768
has_associated_morphology
C0431609
Congenital Abnormality
Congenital malformation of anterior abdominal wall
Malformations of organs or body parts during development in utero.
null
C0000768
has_associated_morphology
C0431614
Congenital Abnormality
Other specified anomalies of genital organs
Malformations of organs or body parts during development in utero.
null
C0000768
has_associated_morphology
C0431615
Congenital Abnormality
Cysts of embryonic remnants NEC
Malformations of organs or body parts during development in utero.
null
C0000768
has_associated_morphology
C0431616
Congenital Abnormality
Hypoplasia of genital organ NEC NOS
Malformations of organs or body parts during development in utero.
null
C0000768
has_associated_morphology
C0431617
Congenital Abnormality
Congenital aplasia of genital organ NEC NOS
Malformations of organs or body parts during development in utero.
null
C0000768
has_associated_morphology
C0431618
Congenital Abnormality
Atresia of genital organ NEC NOS
Malformations of organs or body parts during development in utero.
null
C0000768
has_associated_morphology
C0431619
Congenital Abnormality
Genital organ absence NEC NOS
Malformations of organs or body parts during development in utero.
null
C0000768
has_associated_morphology
C0431620
Congenital Abnormality
Cervical, vaginal and external female genital anomalies
Malformations of organs or body parts during development in utero.
null
C0000768
has_associated_morphology
C0431621
Congenital Abnormality
Other cervical, vaginal and external female genital anomaly NOS
Malformations of organs or body parts during development in utero.
null
C0000768
has_associated_morphology
C0431622
Congenital Abnormality
Congenital malformation of ovaries and fallopian tubes
Malformations of organs or body parts during development in utero.
null
C0000768
has_associated_morphology
C0431626
Congenital Abnormality
Embryonic cyst of fallopian tube or broad ligament NOS
Malformations of organs or body parts during development in utero.
null
C0000768
has_associated_morphology
C0431631
Congenital Abnormality
Embryonic cyst of fallopian tube
Malformations of organs or body parts during development in utero.
null
C0000768
has_associated_morphology
C0431632
Congenital Abnormality
Congenital hydrosalpinx
Malformations of organs or body parts during development in utero.
null
C0000768
has_associated_morphology
C0431633
Congenital Abnormality
Congenital malformation of uterus and cervix
Malformations of organs or body parts during development in utero.
null
C0000768
has_associated_morphology
C0431634
Congenital Abnormality
Other congenital anomaly of cervix
Malformations of organs or body parts during development in utero.
null
C0000768
has_associated_morphology
C0431635
Congenital Abnormality
Other anomalies of uterus
Malformations of organs or body parts during development in utero.
null
C0000768
has_associated_morphology
C0431636
Congenital Abnormality
Other specified anomalies of uterus
Malformations of organs or body parts during development in utero.
null
C0000768
has_associated_morphology
C0431638
Congenital Abnormality
Solid rudimentary uterus
Malformations of organs or body parts during development in utero.
null
C0000768
has_associated_morphology
C0431639
Congenital Abnormality
Doubling of uterus with doubling of cervix and vagina
Malformations of organs or body parts during development in utero.
null
C0000768
has_associated_morphology
C0431641
Congenital Abnormality
Embryonic cyst of cervix
Malformations of organs or body parts during development in utero.
null
C0000768
has_associated_morphology
C0431643
Congenital Abnormality
Congenital anomaly of vagina
Malformations of organs or body parts during development in utero.
null
C0000768
has_associated_morphology
C0431643
Congenital Abnormality
Congenital anomaly of vagina
Malformations of organs or body parts during development in utero.
null
C0000768
has_associated_morphology
C0431645
Congenital Abnormality
Congenital vaginal cyst NEC
Malformations of organs or body parts during development in utero.
null
C0000768
has_associated_morphology
C0431647
Congenital Abnormality
Atresia of lower vagina
Malformations of organs or body parts during development in utero.
null
C0000768
has_associated_morphology
C0431648
Congenital Abnormality
Mayer-Rokitansky-Kuster syndrome
Malformations of organs or body parts during development in utero.
A rare spectrum of Mullerian duct anomalies characterised by congenital aplasia of the uterus and upper two-thirds of the vagina in otherwise phenotypically normal females. It can be classified as either Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome type 1 (corresponding to isolated utero-vaginal aplasia) or MRKH synd...
C0000768
has_associated_morphology
C0431655
Congenital Abnormality
Duplication of external genitalia
Malformations of organs or body parts during development in utero.
null
C0000768
has_associated_morphology
C0431656
Congenital Abnormality
Congenital malformation of clitoris
Malformations of organs or body parts during development in utero.
null
C0000768
has_associated_morphology
C0431657
Congenital Abnormality
Other congenital anomaly of clitoris
Malformations of organs or body parts during development in utero.
null
C0000768
has_associated_morphology
C0431659
Congenital Abnormality
Hypoplasia of scrotum
Malformations of organs or body parts during development in utero.
null
C0000768
has_associated_morphology
C0431661
Congenital Abnormality
Imperfectly descended testes - bilateral
Malformations of organs or body parts during development in utero.
null
C0000768
has_associated_morphology
C0431662
Congenital Abnormality
incomplete; descended testis, unilateral
Malformations of organs or body parts during development in utero.
null
C0000768
has_associated_morphology
C0431663
Congenital Abnormality
Bilateral Cryptorchidism
Malformations of organs or body parts during development in utero.
Absence of both testes from the scrotum owing to failure of the testis or testes to descend through the inguinal canal to the scrotum. [https://orcid.org/0000-0002-0736-9199]
C0000768
has_associated_morphology
C0431664
Congenital Abnormality
Unilateral Cryptorchidism
Malformations of organs or body parts during development in utero.
Absence of a testis from the scrotum on one side owing to failure of the testis or testes to descend through the inguinal canal to the scrotum. [https://orcid.org/0000-0002-0736-9199]
C0000768
has_associated_morphology
C0431665
Congenital Abnormality
Other congenital anomaly of vas deferens or prostate
Malformations of organs or body parts during development in utero.
null
C0000768
has_associated_morphology
C0431668
Congenital Abnormality
Congenital buried penis
Malformations of organs or body parts during development in utero.
null
C0000768
has_associated_morphology
C0431669
Congenital Abnormality
Rotated penis
Malformations of organs or body parts during development in utero.
null
C0000768
has_associated_morphology
C0431670
Congenital Abnormality
Webbed penis
Malformations of organs or body parts during development in utero.
Ventral skinfold extending from penis to scrotum. [PMID:23650202]
C0000768
has_associated_morphology
C0431672
Congenital Abnormality
Short preputial frenulum
Malformations of organs or body parts during development in utero.
null
C0000768
has_associated_morphology
C0431673
Congenital Abnormality
Congenital parameatal cyst
Malformations of organs or body parts during development in utero.
null
C0000768
has_associated_morphology
C0431674
Congenital Abnormality
False hermaphrodite
Malformations of organs or body parts during development in utero.
null
C0000768
has_associated_morphology
C0431675
Congenital Abnormality
Intersex NEC
Malformations of organs or body parts during development in utero.
null
C0000768
has_associated_morphology
C0431758
Congenital Abnormality
Congenital malformation syndromes with other skeletal changes
Malformations of organs or body parts during development in utero.
null
C0000768
has_associated_morphology
C0431766
Congenital Abnormality
Congenital malformation syndromes predominantly involving limbs
Malformations of organs or body parts during development in utero.
null
C0000768
has_associated_morphology
C0432045
Congenital Abnormality
Perodactylia
Malformations of organs or body parts during development in utero.
null
C0000768
has_associated_morphology
C0432046
Congenital Abnormality
Perodactylia of multiple toes
Malformations of organs or body parts during development in utero.
null
C0000768
has_associated_morphology
C0432047
Congenital Abnormality
Perodactylia of lesser toe
Malformations of organs or body parts during development in utero.
null
C0000768
has_associated_morphology
C0432048
Congenital Abnormality
Perodactylia of great toe
Malformations of organs or body parts during development in utero.
null
C0000768
has_associated_morphology
C0432063
Congenital Abnormality
Other arthrogryposis syndromes
Malformations of organs or body parts during development in utero.
null
C0000768
has_associated_morphology
C0432066
Congenital Abnormality
Congenital malformation syndromes predominantly affecting facial appearance
Malformations of organs or body parts during development in utero.
null
C0000768
has_associated_morphology
C0432077
Congenital Abnormality
Other congenital anomaly of palate
Malformations of organs or body parts during development in utero.
null
C0000768
has_associated_morphology
C0432078
Congenital Abnormality
Central incomplete cleft palate with cleft lip
Malformations of organs or body parts during development in utero.
null
C0000768
has_associated_morphology
C0432079
Congenital Abnormality
Central cleft lip
Malformations of organs or body parts during development in utero.
null
C0000768
has_associated_morphology
C0432080
Congenital Abnormality
Bilateral complete and incomplete cleft lip
Malformations of organs or body parts during development in utero.
null
C0000768
has_associated_morphology
C0432081
Congenital Abnormality
Incomplete cleft palate
Malformations of organs or body parts during development in utero.
null
C0000768
has_associated_morphology
C0432082
Congenital Abnormality
complete cleft palate
Malformations of organs or body parts during development in utero.
null
C0000768
has_associated_morphology
C0432083
Congenital Abnormality
Unilateral cleft hard palate
Malformations of organs or body parts during development in utero.
null
C0000768
has_associated_morphology
C0432084
Congenital Abnormality
Cleft of primary palate
Malformations of organs or body parts during development in utero.
null
C0000768
has_associated_morphology
C0432085
Congenital Abnormality
Unilateral incomplete cleft lip and alveolus
Malformations of organs or body parts during development in utero.
null
C0000768
has_associated_morphology
C0432086
Congenital Abnormality
Unilateral complete cleft lip and alveolus
Malformations of organs or body parts during development in utero.
null
C0000768
has_associated_morphology
C0432087
Congenital Abnormality
Bilateral incomplete cleft lip and bilateral incomplete cleft of alveolar process of maxilla
Malformations of organs or body parts during development in utero.
null
C0000768
has_associated_morphology
C0432088
Congenital Abnormality
bilateral complete cleft lip or alveolus
Malformations of organs or body parts during development in utero.
null
C0000768
has_associated_morphology
C0432089
Congenital Abnormality
Bilateral complete and incomplete cleft lip and alveolus
Malformations of organs or body parts during development in utero.
null
C0000768
has_associated_morphology
C0432090
Congenital Abnormality
Cleft of hard palate
Malformations of organs or body parts during development in utero.
null
C0000768
has_associated_morphology
C0432091
Congenital Abnormality
Cleft hard palate, central
Malformations of organs or body parts during development in utero.
null
C0000768
has_associated_morphology
C0432092
Congenital Abnormality
Cleft hard palate, bilateral
Malformations of organs or body parts during development in utero.
null
C0000768
has_associated_morphology
C0432093
Congenital Abnormality
Incomplete cleft hard and soft palate
Malformations of organs or body parts during development in utero.
null
C0000768
has_associated_morphology
C0432094
Congenital Abnormality
Central incomplete cleft palate
Malformations of organs or body parts during development in utero.
null
C0000768
has_associated_morphology
C0432095
Congenital Abnormality
Complete cleft hard and soft palate
Malformations of organs or body parts during development in utero.
null
C0000768
has_associated_morphology
C0432096
Congenital Abnormality
Central complete cleft palate
Malformations of organs or body parts during development in utero.
null
C0000768
has_associated_morphology
C0432098
Congenital Abnormality
Cleft Soft Palate
Malformations of organs or body parts during development in utero.
Cleft velum is a fissure type embryopathy that affects in varying degrees the soft palate.
C0000768
has_associated_morphology
C0432100
Congenital Abnormality
Cleft soft palate, bilateral
Malformations of organs or body parts during development in utero.
null