| HP:0000007 | Autosomal recessive 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 homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele)." [HPO:curators] |
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| HP:0000042 | Absent external genitalia | |
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| HP:0000054 | Micropenis | |
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| HP:0000071 | Ureteral stenosis | |
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| HP:0000176 | Submucous cleft palate | "A cleft palate that is covered by the mucous membrane of the roof of the mouth, which can make the cleft more difficult to observe upon physical examination. Soft-palate submucous clefts are characterized by a midline deficiency or lack of muscle tissue. Hard-palate submucous clefts are characterized by bony defects in the midline of the bony palate. It may be possible to detect a submucous cleft palate upon palpation as a notch in the bony palate." [HPO:curators, pmid:19779505] |
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| HP:0000193 | Bifid uvula | "A split or cleft uvula." [HPO:curators] |
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| HP:0000233 | Thin vermillion border | |
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| HP:0000248 | Brachycephaly | "Brachycephaly refers to a short, wide head, which is often caused by premature closure of both coronal sutures." [HPO:curators] |
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| HP:0000252 | Microcephaly | "Microcephaly is a neurodevelopmental disorder in which the circumference of the head is more than two standard deviations smaller than the age- and gender-dependent norm." [HPO:curators] |
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| HP:0000303 | Mandibular prognathia | "Abnormal prominence of the chin related to an abnormally long mandible." [HPO:curators] |
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| HP:0000307 | Pointed chin | |
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| HP:0000316 | Hypertelorism | |
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| HP:0000322 | Short philtrum | |
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| HP:0000327 | Hypoplasia of the maxilla | "Underdevelopment of the `Maxilla` (FMA:9711)." [HPO:probinson] |
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| HP:0000348 | High forehead | "An abnormally increased height of the forehead." [HPO:curators] |
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| HP:0000410 | Mixed hearing loss | |
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| HP:0000431 | Broad nasal bridge | "Increased horizontal dimension of the upper, bony part of the nose." [HPO:curators] |
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| HP:0000455 | Broad nasal tip | |
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| HP:0000470 | Short neck | |
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| HP:0000486 | Strabismus | "Strabismus (also known as squint) is a condition in which the eyes are not properly aligned with each other." [HPO:curators] |
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| HP:0000494 | Downward slanting palpebral fissures | |
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| HP:0000506 | Telecanthus | "An abnormally increased distance between the medial canthi (angle between eyelids) of the eyelids." [HPO:curators] |
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| HP:0000520 | Proptosis | |
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| HP:0000607 | Periorbital wrinkles | |
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| HP:0000625 | Eyelid, cleft | "A short discontinuity of the margin of the lower or upper eyelid." [pmid:19125427] |
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| HP:0000664 | Synophrys | "Fusion of the left and right `eyebrow` (FMA:54237)." [HPO:probinson] |
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| HP:0000670 | Carious teeth | |
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| HP:0000767 | Pectus excavatum | "A defect of the chest wall characterized by a depression of the sternum, giving the chest ("pectus") a caved-in ("excavatum") appearance." [HPO:curators] |
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| HP:0000808 | Penoscrotal hypospadias | "A severe form of hypospadias in which the urethral opening is located at the junction of the penis and scrotum." [HPO:curators] |
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| HP:0000925 | Abnormality of the vertebral column | "Any abnormality of the spine (vertebral column)." [HPO:curators] |
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| HP:0001249 | Mental retardation | |
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| HP:0001250 | Seizures | "Seizures are an intermittent `abnormality of the central nervous system` (FMA:HP:0002011) due to a sudden, excessive, disorderly discharge of cerebral neurons and characterized clinically by some combination of disturbance of sensation, loss of consciousness, impairment of psychic function, or convulsive movements." [HPO:probinson] |
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| HP:0001363 | Craniosynostosis | "Craniosynostosis refers to the premature closure of the cranial sutures. Primary craniosynostosis refers to the closure of one or more sutures due to abnormalities in skull development, and secondary craniosynostosis results from failure of brain growth." [HPO:curators] |
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| 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:curators] |
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| HP:0001545 | Anteriorly placed anus | "Anterior malposition of the anus." [HPO:curators] |
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| HP:0002342 | Mental retardation, moderate | "Moderate mental retardation is defined as an intelligence quotient (IQ) in the range of 35-49." [HPO:curators] |
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| HP:0002553 | Arched eyebrows | |
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| HP:0002561 | Absent nipples | |
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| HP:0002679 | Abnormality of the sella turcica | "Abnormality of the sella turcica, a saddle-shaped depression in the sphenoid bone at the base of the human skull." [HPO:curators] |
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| HP:0002684 | Thickened calvaria | "The presence of an abnormally thick calvaria." [HPO:curators] |
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| HP:0002714 | Downturned corners of mouth | "A morphological `abnormality of the mouth` (HP:0000153) in which the `angle of the mouth` (FMA:77269) is downturned." [HPO:probinson] |
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| HP:0002836 | Bladder exstrophy | |
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| HP:0003423 | Thoracolumbar kyphoscoliosis | |
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| HP:0005280 | Depressed nasal root and bridge | |
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| HP:0006480 | Premature loss of teeth | |
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| HP:0008516 | Abnormality of the vertebral spinous processes | |
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| HP:0009748 | Fleshy earlobes | "Abnormally thickened or fleshy earlobes." [HPO:curators] |
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| HP:0009814 | Peromelia involving the upper limbs | "`Peromelia` (HP:0009828) affecting only the upper limbs." [HPO:sdoelken] |
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| HP:0009818 | Amelia involving the lower limbs | "`Amelia` (HP:0009827) of one or both legs." [HPO:curators] |
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| HP:0009907 | Adherent earlobe | "Attached ear lobes." [HPO:curators] |
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| HP:0010299 | Abnormality of dentin | "Any abnormality of dentin, which is a calcified tissue of teeth that is covered by enamel on the crown and cementum on the root and surrounds the entire pulp." [HPO:curators] |
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| HP:0010724 | Advanced pneumatization of the mastoid process | "An abnormally advanced degree of pneumatization (i.e., formation of air cells) in the `mastoid process` (FMA:52872) with respect to age-dependent norms." [HPO:probinson] |
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| HP:0010749 | Blepharochalasis | "Blepharochalasis is characterized by recurrent, non-painful, nonerythematous episodes of eyelid edema. It has been divided into hypertrophic and atrophic forms. In the hypertrophic form recurrent edema results in orbital fat herniation through a weakened orbital septum. Most patients who have blepharochalasis present in an atrophic condition with atrophy of redundant eyelid skin and superior nasal fat pads." [PMID:3207663] |
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| HP:0011072 | Rootless teeth | |
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| HP:0012368 | Flat face | "Absence of concavity or convexity of the face when viewed in profile." [pmid:19125436] |
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| HP:0100334 | Unilateral cleft palate | |
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| HP:0430026 | Abnormality of the shape of the midface | "An abnormal morphology (form) of the midface or its components, the cheeks, maxilla, zygomatic bone, malar region, and infraorbital rims." [orcid.org/0000-0001-5889-4463] |
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