| HPO |
HP:0011968 |
Feeding difficulties |
"Impaired ability to eat related to problems gathering food and getting ready to suck, chew, or swallow it." [ISCA:eriggs] |
— |
HP:0011458 |
| HPO |
HP:0000823 |
Delayed puberty |
"Passing the age when puberty normally occurs with no physical or hormonal signs of the onset of puberty." [HPO:probinson] |
The age at which delayed puberty may be diagnosed in a person without signs of secondary sexual development is 13 years in a girl or 14 years in a boy. |
HP:0001510, HP:0008373 |
| HPO |
HP:0010515 |
Aplasia/Hypoplasia of the thymus |
"Absence or underdevelopment of the thymus." [HPO:probinson] |
— |
HP:0000777 |
| HPO |
HP:0002032 |
Esophageal atresia |
"A developmental defect resulting in complete obliteration of the lumen of the esophagus such that the esophagus ends in a blind pouch rather than connecting to the stomach." [HPO:curators] |
— |
HP:0002031, HP:0002589 |
| HPO |
HP:0004058 |
Hand monodactyly |
— |
— |
HP:0001180 |
| HPO |
HP:0002575 |
Tracheoesophageal fistula |
"An abnormal connection (fistula) between the esophagus and the trachea." [HPO:probinson] |
— |
HP:0002031, HP:0002778 |
| HPO |
HP:0001631 |
Atrial septal defect |
"Atrial septal defect (ASD) is a congenital abnormality of the interatrial septum that enables blood flow between the left and right atria via the interatrial septum." [DDD:dbrown, HPO:probinson] |
— |
HP:0005120, HP:0011994 |
| HPO |
HP:0000006 |
Autosomal dominant inheritance |
"A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele." [HPO:curators] |
— |
HP:0000005 |
| HPO |
HP:0009778 |
Short thumb |
"Hypoplasia (congenital reduction in size) of the thumb." [HPO:probinson] |
— |
HP:0009381, HP:0009601 |
| HPO |
HP:0000410 |
Mixed hearing impairment |
"A type of hearing loss resulting from a combination of conductive hearing impairment and sensorineural hearing impairment." [HPO:probinson] |
— |
HP:0000405, HP:0000407 |
| HPO |
HP:0001018 |
Abnormal palmar dermatoglyphics |
"An abnormality of the dermatoglyphs, i.e., an abnormality of the patterns of ridges of the skin of palm of hand." [HPO:probinson] |
— |
HP:0007477, HP:0040211 |
| HPO |
HP:0002139 |
Arrhinencephaly |
— |
— |
HP:0002323 |
| HPO |
HP:0001360 |
Holoprosencephaly |
"Holoprosencephaly is a structural anomaly of the brain in which the developing forebrain fails to divide into two separate hemispheres and ventricles." [HPO:probinson] |
The presence of a single cerebral ventricle (instead of the usual four) may be seen as part of holoprosencephaly. |
HP:0012443 |
| HPO |
HP:0000028 |
Cryptorchidism |
"Testis in inguinal canal. That is, absence of one or both testes from the scrotum owing to failure of the testis or testes to descend through the inguinal canal to the scrotum." [HPO:probinson, PMID:23650202] |
The gonad is mobile and can be retracted superiorly by the cremaster muscle reflex stimulated, for instance, by cold or touch. A retracted testis is not cryptorchidism. An abdominal testis cannot be distinguished by physical examination from an (Apparently) absent testis and requires radiological (or, rarely, surgical) procedures for assessment. |
HP:0000035 |
| HPO |
HP:0001643 |
Patent ductus arteriosus |
"In utero, the ductus arteriosus (DA) serves to divert ventricular output away from the lungs and toward the placenta by connecting the main pulmonary artery to the descending aorta. A patent ductus arteriosus (PDA) in the first 3 days of life is a physiologic shunt in healthy term and preterm newborn infants, and normally is substantially closed within about 24 hours after bith and completely closed after about three weeks. Failure of physiologcal closure is referred to a persistent or patent ductus arteriosus (PDA). Depending on the degree of left-to-right shunting, PDA can have clinical consequences." [HPO:probinson, PMID:20421261] |
— |
HP:0011603 |
| HPO |
HP:0000272 |
Malar flattening |
"Underdevelopment of the malar prominence of the jugal bone (zygomatic bone in mammals), appreciated in profile, frontal view, and/or by palpation." [HPO:probinson, ORCID:0000-0001-5889-4463, PMID:19125436] |
The malar process is the most medial and superior portion of the bony midface, articulating with the maxilla and temporal and sphenoid bones, contiguous with the lateral boundary of the nasal bridge. The term malar hypoplasia is no longer preferred because surface examination cannot distinguish hypoplasia from hypotrophy. {xref="ORCID:0000-0001-5889-4463"} |
HP:0012369 |
| HPO |
HP:0001537 |
Umbilical hernia |
"Protrusion of abdominal contents through a defect in the abdominal wall musculature around the umbilicus. Skin and subcutaneous tissue overlie the defect." [HPO:probinson] |
— |
HP:0001551, HP:0004299 |
| 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:0000612 |
Iris coloboma |
"A coloboma of the iris." [HPO:probinson, PMID:19369671] |
— |
HP:0000525, HP:0000589 |
| 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:0200021 |
Down-sloping shoulders |
"Low set, steeply sloping shoulders." [HPO:probinson] |
— |
HP:0003043 |
| HPO |
HP:0001719 |
Double outlet right ventricle |
"Double outlet right ventricle (DORV) is a type of ventriculoarterial connection in which both great vessels arise entirely or predominantly from the right ventricle." [HPO:probinson, PMID:10798433] |
During the development of the heart, the outflow tract initially connects exclusively with the primitive right ventricle and must undergo extensive remodelling to divide into a separate pulmonary artery and aorta; subsequently, there is continued remodelling to establish direct continuity from the left ventricle to the aorta. DORV encompasses a wide spectrum of anatomic arrangements and pathophysiologic disturbances. At one end of the spectrum, it mimics tetralogy of Fallot in the presence of pulmonary stenosis, or a large ventricular septal defect (VSD) in the absence of such stenosis. At the other end of the spectrum, it behaves like transposition of the great arteries with a VSD. |
HP:0001710, HP:0011723 |
| HPO |
HP:0000458 |
Anosmia |
"An inability to perceive odors. This is a general term describing inability to smell arising in any part of the process of smelling from absorption of odorants into the nasal mucous overlying the olfactory epithelium, diffusion to the cilia, binding to olfactory receptor sites, generation of action potentials in olfactory neurons, and perception of a smell." [HPO:probinson] |
— |
HP:0004408 |
| HPO |
HP:0003974 |
Absent radius |
"Missing radius bone associated with congenital failure of development." [HPO:probinson] |
— |
HP:0003953, HP:0006501, HP:0009822 |
| HPO |
HP:0000085 |
Horseshoe kidney |
"A connection of the right and left kidney by an isthmus of functioning renal parenchyma or fibrous tissue that crosses the midline." [HPO:probinson] |
— |
HP:0100542 |