| 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:0000778 | Thymus hypoplasia | "Underdevelopment of the thymus." [HPO:curators] |
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| HP:0000872 | Hashimoto thyroiditis | |
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| HP:0000924 | Abnormality of the musculoskeletal system | "An abnormality of the musculoskeletal system including one or more abnormalities affecting bones, muscles, cartilage, tendons, ligaments, joints, and other connective tissue." [HPO:curators] |
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| HP:0001072 | Thickened skin | |
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| HP:0001438 | Abnormality of the abdomen | "Abnormality of the abdomen ("belly"), that is, the part of the body between the pelvis and the thorax." [HPO:curators] |
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| HP:0001511 | Intrauterine growth retardation | |
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| HP:0001539 | Omphalocele | |
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| HP:0001561 | Polyhydramnios | |
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| HP:0001629 | Ventricular septal defect | "A hole between the two bottom chambers (ventricles) of the heart. The defect is centered around the most superior aspect of the ventricular septum." [HPO:curators] |
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| HP:0001890 | Autoimmune hemolytic anemia | |
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| HP:0002223 | Absent eyebrows | |
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| HP:0002293 | Alopecia of scalp | |
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| HP:0002566 | Intestinal malrotation | "An abnormality of the intestinal rotation and fixation that normally occurs during the development of the gut. This can lead to volvulus, or twisting of the intestine that causes obstruction and necrosis." [HPO:curators] |
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| HP:0002573 | Hematochezia | |
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| HP:0002589 | Gastrointestinal atresia | |
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| HP:0003270 | Abdominal distention | "Enlargement or distention of the abdomen, which can be a secondary feature associated with a number of conditions such as bowel obstruction." [HPO:curators] |
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| HP:0003765 | Psoriasis | |
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| HP:0004430 | Severe combined immunodeficiency | "Severe combine immunodeficiency (SCID) is a primary immune deficiency that is characterized by a severe defect in both the T- and B-lymphocyte systems." [HPO:curators] |
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| HP:0005224 | Rectal abscess | |
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| HP:0005229 | Jejunoileal ulceration | |
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| HP:0008070 | Sparse hair | |
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| HP:0008404 | Nail dystrophy, variable | |
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| HP:0010766 | Ectopic calcifications | |
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| HP:0010959 | Congenital cystic adenomatoid malformation of the lung | "A hamartomatous lesion of the lung (i.e., a lesion characterized by normal lung tissues in a disorganized spatial arrangement)." [HPO:probinson, pmid:20610189] |
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| HP:0011100 | Intestinal atresia | "An abnormal closure, or `atresia` (PATO:0001819) of the tubular structure of the `intestine` (FMA:7199)." [HPO:probinson] |
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| HP:0012115 | Hepatitis | "Inflammation of the liver." [HPO:probinson] |
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| HP:0025085 | Bloody diarrhea | "Passage of many stools containing blood." [] |
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| HP:0100592 | Peritoneal abscess | "The presence of an `abscess` (MPATH:608) of the `peritoneum` (FMA:9584)." [HPO:probinson] |
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| HP:0100651 | Diabetes mellitus Type I | |
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| HP:0100867 | Duodenal stenosis | "The narrowing or partial blockage of a portion of the duodenum." [HPO:sdoelken] |
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| HP:0100889 | Abnormality of the ductus choledochus | "An abnormality of the `Common bile duct` (FMA:14667), a tube-like anatomic structure in the human gastrointestinal tract, formed by the union of the `Common hepatic duct` (FMA:14668) and the `Cystic duct` (FMA:14539) from the gall bladder." [HPO:sdoelken] |
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