| 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:0000123 | Nephritis | "The presence of inflammation affecting the kidney." [HPO:curators] |
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| HP:0000137 | Abnormality of the ovaries | |
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| HP:0000212 | Gingival hyperplasia | |
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| HP:0000230 | Gingivitis | |
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| HP:0000238 | Hydrocephalus | |
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| HP:0000256 | Macrocephaly | "The presence of an abnormally large `skull` (FMA:46565)." [HPO:probinson] |
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| HP:0000370 | Abnormality of the middle ear | |
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| HP:0000403 | Recurrent otitis media | |
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| HP:0000504 | Abnormality of vision | "Abnormality of eyesight (visual perception)." [HPO:curators] |
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| HP:0000509 | Conjunctivitis | "Inflammation of the conjunctiva." [HPO:curators] |
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| HP:0000598 | Abnormality of the ears | |
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| HP:0000618 | Blindness | |
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| HP:0000704 | Periodontal disease | |
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| HP:0000787 | Kidney stones | |
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| HP:0000951 | Abnormality of the skin | "An abnormality of the `skin` (FMA:7163)." [HPO:probinson] |
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| HP:0001058 | Poor wound healing | |
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| HP:0001096 | Keratoconjunctivitis | "Inflammation of the cornea and conjunctiva." [HPO:curators] |
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| HP:0001263 | Developmental retardation | "A delay in the achievement of motor or mental milestones manifested prior to age 18 and generally associated with lifelong mental and/or physical impairments." [HPO:curators] |
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| HP:0001305 | Dandy-Walker malformation | "A congenital brain malformation typically characterized by incomplete formation of the cerebellar vermis, dilation of the fourth ventricle, and enlargement of the posterior fossa. In layman s terms, Dandy Walker malformation is a cyst in the cerebellum (typically symmetrical) that is involved with the fourth ventricle. This may interfere with the body s ability to drain cerebrospinal fluid from the brain, resulting in hydrocephalus. Dandy Walker cysts are formed during early embryonic development, while the brain forms. The cyst in the cerebellum typically has several blood vessels running through it connecting to the brain, thereby prohibiting surgical removal." [HPO:curators] |
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| HP:0001321 | Cerebellar hypoplasia | |
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| HP:0001347 | Hyperreflexia | "The presence of overactive or overresponsive reflexes." [HPO:curators] |
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| HP:0001600 | Abnormality of the larynx | |
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| HP:0001939 | Metabolism abnormality | |
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| HP:0002086 | Respiratory abnormality | |
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| HP:0002588 | Duodenal ulcer | "An erosion of the mucous membrane of in a portion of the duodenum." [HPO:curators] |
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| HP:0002788 | Recurrent upper respiratory tract infections | |
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| HP:0002837 | Bronchitis | |
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| HP:0003593 | Early onset | |
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| HP:0004386 | Gastrointestinal inflammatory disorder | |
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| HP:0005264 | Abnormality of the gallbladder | |
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| HP:0006480 | Premature loss of teeth | |
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| HP:0006532 | Pneumonia, recurrent episodes | |
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| HP:0007717 | Chronic irritative conjunctivitis | "A chronic irritative conjunctivitis, which commonly presents with general irritation and redness of the eyes, with a burning, dry, or foreign-body sensation of the eyes." [HPO:curators] |
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| HP:0009926 | Increased tear production | "Abnormally in creased lacrimation." [HPO:curators] |
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| HP:0010280 | Stomatitis | "Stomatitis is an inflammation of the mucous membranes of any of the structures in the mouth." [HPO:curators] |
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| HP:0011027 | Abnormality of the fallopian tube | "An abnormality of the `fallopian tube` (FMA:18245)." [HPO:probinson] |
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| HP:0011328 | Abnormality of fontanelles | "An abnormality of the `fontanelle` (FMA:75438)." [HPO:probinson] |
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| HP:0030160 | Cervicitis | "Inflammation of the uterine cervix." [HPO:probinson, pmid:21270291] |
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| HP:0030683 | Vaginitis | "An inflammation of the vagina that can result in discharge, itching and pain." [] |
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| HP:0040228 | Decreased level of plasminogen | "A decreased level of Plasminogen" [] |
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| HP:0045026 | Abnormality of the mediastinum | |
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| HP:0100776 | Recurrent pharyngitis | "An increased susceptibility to pharyngitis as manifested by a history of recurrent pharyngitis." [HPO:probinson] |
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| HP:0200034 | skin papules | "A circumscribed, solid elevation of skin with no visible fluid, varying in size from a pinhead to less than 10mm in diameter at the widest point." [HPO:SKOEHLER] |
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