| HPO |
HP:0001750 |
Single ventricle |
"The presence of only one working lower chamber in the heart, usually with a virtual absence of the ventricular septum and usually present in conjunction with double inlet left or right ventricle." [MP:0010432] |
— |
HP:0001713 |
| HPO |
HP:0011560 |
Mitral atresia |
"A congenital defect with failure to open of the mitral valve orifice." [DDD:dbrown] |
— |
HP:0001633, HP:0011546 |
| HPO |
HP:0001508 |
Failure to thrive |
"Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm." [HPO:probinson] |
Although there is no clear consensus on the exact definition of FTT, it is usually diagnoses in a child growing below the 3rd percentile or in a child whose decreased growth has cross two major growth percentiles (for example, from above the 75th percentile to below the 25th percentile). |
HP:0004325 |
| HPO |
HP:0000238 |
Hydrocephalus |
"Hydrocephalus is an active distension of the ventricular system of the brain resulting from inadequate passage of CSF from its point of production within the cerebral ventricles to its point of absorption into the systemic circulation." [HPO:probinson, PMID:18211712, PMID:19410151] |
Hydrocephalus results from an imbalance between the rate of production of cerebrospinal fluid (CSF), mainly in the choroid plexus, and its reabsorption in the subarchnoid space over brain and spinal cord. |
HP:0002118, HP:0002921 |
| HPO |
HP:0001419 |
X-linked recessive inheritance |
"A mode of inheritance that is observed for recessive traits related to a gene encoded on the X chromosome. In the context of medical genetics, X-linked recessive disorders manifest in males (who have one copy of the X chromosome and are thus hemizygotes), but generally not in female heterozygotes who have one mutant and one normal allele." [HPO:curators] |
— |
HP:0001417 |
| HPO |
HP:0000068 |
Urethral atresia |
"Congenital anomaly characterized by closure or failure to develop an opening in the urethra." [HPO:probinson] |
— |
HP:0000795 |
| HPO |
HP:0000925 |
Abnormality of the vertebral column |
"Any abnormality of the vertebral column." [HPO:probinson] |
— |
HP:0009121 |
| HPO |
HP:0009623 |
Proximal placement of thumb |
"Proximal mislocalization of the thumb." [HPO:probinson, PMID:19125433] |
Thumb placement index greater than 0.55; or, the base of the thumb appears closer to the wrist than is typical. The technique for the thumb placement index is described in detail [Malina et al., 1973; Hall et al., 2007]. Briefly, the thumb placement index is the distance from the proximal crease of the index finger to the angle of the first interdigital space divided by the distance from the proximal crease of the index finger to the wrist flexion crease at the base of the thumb. This term should not be used with Preaxial polydactyly. |
HP:0009603 |
| HPO |
HP:0000105 |
Enlarged kidney |
"An abnormal increase in the size of the kidney." [HPO:probinson] |
The main causes of large kidney are hydronephrosis, polycystic disease, renal cell carcinoma, nephroblastoma/Wilm's tumor (in children), and solitary cysts. If possible, a specific term should be used instead of this one. There are several ways of diagnosing enlarged kidney including intravenous urography. |
HP:0012210 |
| HPO |
HP:0030680 |
Abnormality of cardiovascular system morphology |
"Any structural anomaly of the heart and great vessels." [] |
— |
HP:0001626 |
| HPO |
HP:0005792 |
Short humerus |
"Underdevelopment of the humerus." [HPO:probinson] |
— |
HP:0003026, HP:0006507 |
| HPO |
HP:0001669 |
Transposition of the great arteries |
"A complex congenital heart defect in which the aorta arises from the morphologic right ventricle and the pulmonary artery arises from the morphologic left ventricle." [eMedicine:900574, HPO:probinson, PMID:10798431] |
— |
HP:0011563, HP:0011603 |
| HPO |
HP:0002575 |
Tracheoesophageal fistula |
"An abnormal connection (fistula) between the esophagus and the trachea." [HPO:probinson] |
— |
HP:0002031, HP:0002778 |
| HPO |
HP:0006695 |
Atrioventricular canal defect |
"A defect of the atrioventricular septum of the heart." [HPO:probinson, PMID:12632326] |
During atrioventricular valvuloseptal morphogenesis, the endocardial cushions expand as they are infiltrated by extracellular matrix secreted from the surrounding myocardium. The cushions then fuse and are remodeled to form the atrioventricular valves and septa. Failure of this process results in AVSD, with the degree of severity dependent on the stage at which the developmental failure occurs. AVSD are a spectrum of cardiac malformations that result in a persistent common atrioventricular canal. |
HP:0001671 |
| HPO |
HP:0001161 |
Hand polydactyly |
"A kind of polydactyly characterized by the presence of a supernumerary finger or fingers." [HPO:probinson] |
— |
HP:0009997, HP:0010442 |
| HPO |
HP:0000126 |
Hydronephrosis |
"Severe distention of the kidney with dilation of the renal pelvis and calices." [HPO:probinson] |
Hydronephrosis can be caused by reflux or by retrograde pressure on the kidney when the flow of urine is obstructed. |
HP:0010946 |
| HPO |
HP:0031853 |
Isomerism |
"Isomerism in the context of the congenitally malformed heart is defined as a situation where some paired structures on opposite sides of the left-right axis of the body are, in morphologic terms, symmetrical mirror images of each other." [PMID:21731561] |
The word isomerism is also derived from the Greek: iso-meaning equal and meros-meaning part. Isomerism refers to structures that are themselves mirror-imaged. When used in the area of the congenitally malformed heart, the term isomerism has become the conventional description for the situation in which morphologically right structures or morphologically left structures are found on both sides of the body in the same individual. |
HP:0030853 |
| HPO |
HP:0003974 |
Absent radius |
"Missing radius bone associated with congenital failure of development." [HPO:probinson] |
— |
HP:0003953, HP:0006501, HP:0009822 |
| HPO |
HP:0002023 |
Anal atresia |
"Congenital absence of the anus, i.e., the opening at the bottom end of the intestinal tract." [HPO:probinson] |
— |
HP:0004378 |
| HPO |
HP:0003468 |
Abnormal vertebral morphology |
"An abnormality of one or more of the vertebrae." [HPO:probinson] |
A vertebra is one of 33 bony segments that form the spinal column of humans. There are 7 cervical, 12 thoracic, 5 lumbar, 5 sacral and 4 coccygeal vertebrae (the coccygeal vertebrae are fused into one coccyx bone). |
HP:0000925 |
| OMIM |
OMIM:314390 |
VACTERL ASSOCIATION, X-LINKED, WITH OR WITHOUT HYDROCEPHALUS; VACTERLX |
— |
— |
— |
| OMIM |
OMIM:306955 |
HETEROTAXY, VISCERAL, 1, X-LINKED; HTX1 |
— |
— |
— |