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Items: 1 to 20 of 33

1.

Congenital cleft nose

Visually assessable vertical indentation, cleft, or depression of the nasal bridge, ridge and tip. [from HPO]

MedGen UID:
66379
Concept ID:
C0221363
Anatomical Abnormality; Finding; Finding
2.

Bifid nose

Visually assessable vertical indentation, cleft, or depression of the nasal bridge, ridge and tip. [from HPO]

MedGen UID:
506617
Concept ID:
CN167531
Finding
3.

Bifid nose with or without anorectal and renal anomalies

MedGen UID:
413305
Concept ID:
C2750433
Disease or Syndrome
4.

Marles Greenberg Persaud syndrome

Manitoba oculotrichoanal (MOTA) syndrome is characterized by an aberrant hairline (unilateral or bilateral wedge-shaped extension of the anterior hairline from the temple region to the ipsilateral eye) and anomalies of the eyes (ocular hypertelorism, anophthalmia/microphthalmia, cryptophthalmos, colobomas of the upper eyelid and corneopalpebral synechiae), nose (bifid or wide with a notched tip), abdominal wall (omphalocele or umbilical hernia), and anus (stenosis and/or anterior displacement of the anal opening). The manifestations and degree of severity vary even among affected members of the same family. Growth and psychomotor development are normal. [from GeneReviews]

MedGen UID:
383680
Concept ID:
C1855425
Disease or Syndrome
5.

Renal adysplasia

Renal hypodysplasia/aplasia belongs to a group of perinatally lethal renal diseases, including bilateral renal aplasia, unilateral renal agenesis with contralateral dysplasia (URA/RD), and severe obstructive uropathy. Renal aplasia falls at the most severe end of the spectrum of congenital anomalies of the kidney and urinary tract (CAKUT; 610805), and usually results in death in utero or in the perinatal period. Families have been documented in which bilateral renal agenesis or aplasia coexists with unilateral renal aplasia, renal dysplasia, or renal aplasia with renal dysplasia, suggesting that these conditions may belong to a pathogenic continuum or phenotypic spectrum (summary by Joss et al., 2003; Humbert et al., 2014). Genetic Heterogeneity of Renal Hypodysplasia/Aplasia RHDA2 (615721) is caused by mutation in the FGF20 gene (605558) on chromosome 8p22. [from OMIM]

MedGen UID:
301437
Concept ID:
C1619700
Congenital Abnormality; Disease or Syndrome
6.

Bilateral renal agenesis

A bilateral form of agenesis of the kidney. [from HPO]

MedGen UID:
296299
Concept ID:
C1609433
Congenital Abnormality; Disease or Syndrome
7.

Renal agenesis

MedGen UID:
98089
Concept ID:
C0426706
Finding
8.

Cryptophthalmos syndrome

Fraser syndrome is a rare autosomal recessive disorder characterized by cryptophthalmos, syndactyly, ambiguous genitalia, laryngeal and genitourinary malformations, oral clefting, and mental retardation (summary by Slavotinek et al., 2006). See Bowen syndrome (211200) for a comparable but probably distinct syndrome of multiple congenital malformations. [from OMIM]

MedGen UID:
82692
Concept ID:
C0265233
Congenital Abnormality; Disease or Syndrome
9.

Renal dysplasia

Renal dysplasia is a form of renal malformation in which the kidney(s) are present but their development is abnormal and incomplete. Renal dysplasia can be unilateral or bilateral (see these terms), segmental, and of variable severity, with renal aplasia corresponding to extreme dysplasia. [from ORDO]

MedGen UID:
832730
Concept ID:
CN227667
Finding
10.

Hydrometrocolpos

Hydrometrocolpos is an accumulation of uterine and vaginal secretions as well as menstrual blood in the uterus and vagina. [from HPO]

MedGen UID:
807887
Concept ID:
CN218447
Finding
11.

Vaginal atresia

Congenital occlusion of the vagina or adhesion of the walls of the vagina causing occlusion. [from HPO]

MedGen UID:
504366
Concept ID:
CN000144
Finding
12.

Unilateral renal agenesis

A unilateral form of agenesis of the kidney. [from HPO]

MedGen UID:
504349
Concept ID:
CN000118
Finding
13.

Renal dysplasia

The presence of developmental dysplasia of the kidney. [from HPO]

MedGen UID:
504345
Concept ID:
CN000108
Finding
14.

Thoracomelic dysplasia

MedGen UID:
336441
Concept ID:
C1848863
Disease or Syndrome
15.

Bifid nasal tip

A splitting of the nasal tip. Visually assessable vertical indentation, cleft, or depression of the nasal tip. [from HPO]

MedGen UID:
140870
Concept ID:
C0426428
Finding
16.

Hydrometrocolpos

Hydrometrocolpos is an accumulation of uterine and vaginal secretions as well as menstrual blood in the uterus and vagina. [from HPO]

MedGen UID:
82843
Concept ID:
C0269209
Disease or Syndrome
17.

Renal dysplasia

Autosomal recessive renal tubular dysgenesis is a severe disorder of renal tubular development characterized by persistent fetal anuria and perinatal death, probably due to pulmonary hypoplasia from early-onset oligohydramnios (the Potter phenotype) (Gribouval et al., 2005). Absence or paucity of differentiated proximal tubules is the histopathologic hallmark of the disorder and may be associated with skull ossification defects. [from OMIM]

MedGen UID:
82738
Concept ID:
C0266313
Congenital Abnormality; Disease or Syndrome
18.

Nephropathy

Your kidneys are two bean-shaped organs, each about the size of your fists. They are located near the middle of your back, just below the rib cage. Inside each kidney about a million tiny structures called nephrons filter blood. They remove waste products and extra water, which become urine. The urine flows through tubes called ureters to your bladder, which stores the urine until you go to the bathroom. . Most kidney diseases attack the nephrons. This damage may leave kidneys unable to remove wastes. Causes can include genetic problems, injuries, or medicines. You are at greater risk for kidney disease if you have diabetes, high blood pressure, or a close family member with kidney disease. Chronic kidney disease damages the nephrons slowly over several years. Other kidney problems include:. -Cancer. -Cysts. -Stones. -Infections. Your doctor can run tests to find out if you have kidney disease. If your kidneys fail completely, a kidney transplant or dialysis can replace the work your kidneys normally do. NIH: National Institute of Diabetes and Digestive and Kidney Diseases.  [from MedlinePlus]

MedGen UID:
9635
Concept ID:
C0022658
Disease or Syndrome
19.

Hypertelorism

Although hypertelorism means an excessive distance between any paired organs (e.g., the nipples), the use of the word has come to be confined to ocular hypertelorism. Hypertelorism occurs as an isolated feature and is also a feature of many syndromes, e.g., Opitz G syndrome (145410), Greig cephalopolysyndactyly (175700), and Noonan syndrome (163950) (summary by Cohen et al., 1995). [from OMIM]

MedGen UID:
9373
Concept ID:
C0020534
Congenital Abnormality
20.

Multiple congenital anomalies

MedGen UID:
7806
Concept ID:
C0000772
Congenital Abnormality
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