| 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:0000050 | Hypoplastic genitalia | |
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| HP:0000059 | Hypoplastic labia majora | |
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| HP:0000062 | Ambiguous genitalia | |
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| HP:0000160 | Microstomia | "The presence of an abnormally small `mouth` (FMA:49184)." [HPO:curators] |
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| HP:0000161 | Median cleft lip | "A type of `cleft lip` (HP:0000204) presenting as a midline (median) gap in the upper lip." [HPO:curators] |
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| HP:0000175 | Cleft palate | "Cleft palate is a developmental defect of the `palate` (FMA:54549) resulting from a failure of fusion of the palatine processes." [HPO:curators] |
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| HP:0000204 | Cleft lip | "A gap in the `upper lip` (FMA:59817). This is a congenital defect resulting from nonfusion of tissues of the lip during embryonal development." [HPO:probinson] |
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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:0000316 | Hypertelorism | |
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| HP:0000327 | Hypoplasia of the maxilla | "Underdevelopment of the `Maxilla` (FMA:9711)." [HPO:probinson] |
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| HP:0000347 | Mandibular hypoplasia | "Underdevelopment of the mandible." [HPO:curators] |
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| HP:0000369 | Low-set ears | "Low-set ears are defined to be set below an arbitrary line drawn between the lateral canthus of the eye and the occipital protruberance." [HPO:curators] |
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| HP:0000378 | Cup-shaped ears | "Small auricles that grow forward over the meatus (ear canal)." [HPO:curators] |
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| HP:0000430 | Hypoplastic nasal alae | "Thinned, deficient, or excessively arched `ala nasi` (FMA:59519)." [pmid:19152422] |
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| HP:0000561 | Absent eyelashes | "Lack of eyelashes." [HPO:curators] |
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| HP:0000568 | Microphthalmos | "A developmental anomaly characterized by abnormal smallness of one or both eyes." [HPO:curators] |
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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:0000882 | Hypoplastic scapulae | |
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| HP:0001159 | Syndactyly | "Webbing or fusion of the fingers or toes, involving soft parts only or including bone structure. Bony fusions are revered to as "bony" Syndactyly if the fusion occurs in a radio-ulnar axis. Fusions of bones of the fingers or toes in a proximo-distal axis are refered to as "Symphalangism"." [HPO:curators] |
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| HP:0001249 | Mental retardation | |
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| HP:0001511 | Intrauterine growth retardation | |
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| HP:0001770 | Toe syndactyly | "Webbing or fusion of the toes, involving soft parts only or including bone structure. Bony fusions are revered to as "bony" Syndactyly if the fusion occurs in a radio-ulnar axis. Fusions of bones of the toes in a proximo-distal axis are refered to as "Symphalangism"." [HPO:curators] |
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| HP:0001792 | Nail hypoplasia | "Underdeveloped `fingernails` (FMA:54327) or `toenails` (FMA:54328)." [HPO:probinson] |
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| HP:0001798 | Anonychia | "Total absence of nails." [HPO:curators] |
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| HP:0001800 | Hypoplastic toenails | "Underdeveloped toenails." [HPO:curators] |
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| HP:0001883 | Talipes | |
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| HP:0002006 | Facial cleft | |
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| HP:0002025 | Anal stenosis | "Abnormal narrowing of the anal opening." [HPO:curators] |
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| HP:0002223 | Absent eyebrows | |
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| HP:0003196 | Nasal hypoplasia | "Underdevelopment of the `nose` (FMA:46472)." [HPO:probinson] |
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| HP:0006101 | Finger syndactyly | "Webbing or fusion of the fingers, involving soft parts only or including bone structure. Bony fusions are revered to as "bony" Syndactyly if the fusion occurs in a radio-ulnar axis. Fusions of bones of the fingers in a proximo-distal axis are refered to as "Symphalangism"." [HPO:curators] |
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| HP:0006610 | Wide intermamillary distance | |
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| HP:0007418 | Alopecia totalis | |
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| HP:0007759 | Corneal opacities, not impairing visual acuity | |
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| HP:0007957 | Variable degree of corneal opacities | |
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| HP:0008678 | Renal hypoplasia/aplasia | |
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| HP:0008689 | Bilateral cryptorchidism | |
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| HP:0009755 | Ankyloblepharon | "Adhesion of the ciliary edges of the eyelids to each other." [HPO:curators] |
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| HP:0009756 | Popliteal pterygium | "A pterygium (or pterygia) occuring in the popliteal region (the back of the knee)." [HPO:curators] |
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| HP:0009777 | Aplasia of the thumb | "Absent thumb." [HPO:curators] |
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| HP:0009803 | Hypoplastic/small phalanges of the hand | |
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| HP:0010185 | Aplasia/Hypoplasia of the distal phalanges of the toes | |
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| HP:0030680 | Abnormality of cardiovascular system morphology | "Any structural anomaly of the heart and great vessels." [] |
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| HP:0100240 | Synostosis of joints | |
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| HP:0100840 | Aplasia/Hypoplasia of the eyebrow | "Absence or underdevelopment of the eyebrow." [HPO:probinson] |
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| HP:0200102 | Sparse/absent eyelashes | |
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