| 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:0000010 | Recurrent urinary tract infections | "Repeated infections of the urinary tract." [HPO:curators] |
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| HP:0000126 | Hydronephrosis | |
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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:0000246 | Sinusitis | |
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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:0000265 | Mastoiditis | |
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| HP:0000278 | Retrognathia | |
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| HP:0000294 | Low frontal hairline | "A condition in which the scalp hair is present at lower than usual areas of the forehead." [HPO:curators] |
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| HP:0000340 | Sloping forehead | "A form of the forehead that slopes from top to bottom in an anterior direction." [HPO:curators] |
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| HP:0000347 | Mandibular hypoplasia | "Underdevelopment of the mandible." [HPO:curators] |
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| HP:0000364 | Hearing abnormality | |
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| HP:0000388 | Otitis media | |
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| HP:0000400 | Large ears | |
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| HP:0000426 | Prominent nasal bridge | |
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| HP:0000444 | Beaked nose | |
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| HP:0000448 | Prominent nose | |
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| HP:0000453 | Choanal atresia | "Absence or abnormal closure of the choana (the posterior nasal aperture)." [HPO:curators] |
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| HP:0000470 | Short neck | |
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| HP:0000582 | Upslanting palpebral fissures | |
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| HP:0000752 | Hyperactivity | |
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| HP:0000957 | Cafe-au-lait spots | |
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| HP:0000992 | Photosensitivity | "An increased sensitivity of the skin to light. Photosensitivity may result in a rash upon exposure to the sun (which is known as photodermatosis). Photosensitivity can be diagnosed by phototests in which light is shone on small areas of skin." [HPO:curators] |
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| HP:0001249 | Mental retardation | |
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| HP:0001268 | Mental deterioration | |
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| HP:0001324 | Muscle weakness | "Reduced strength of muscles." [HPO:curators] |
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| HP:0001480 | Freckling | |
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| HP:0001511 | Intrauterine growth retardation | |
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| HP:0001873 | Thrombocytopenia | |
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| HP:0001890 | Autoimmune hemolytic anemia | |
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| HP:0001915 | Aplastic anemia | |
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| HP:0002002 | Deep philtrum | |
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| HP:0002014 | Diarrhea | |
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| HP:0002023 | Anal atresia | "Congenital absence of the anus, i.e., the opening at the bottom end of the intestinal tract." [HPO:curators] |
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| HP:0002025 | Anal stenosis | "Abnormal narrowing of the anal opening." [HPO:curators] |
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| HP:0002028 | Chronic diarrhea | |
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| HP:0002110 | Bronchiectasis | |
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| HP:0002180 | Neurodegeneration | |
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| HP:0002269 | Neuronal migration disorder | |
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| HP:0002488 | Acute leukemia | |
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| HP:0002665 | Lymphoma | "A cancer originating in lymphocytes and presenting as a solid tumor of lymhpoid cells." [HPO:curators] |
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| HP:0002837 | Bronchitis | |
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| HP:0002859 | Rhabdomyosarcoma | |
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| HP:0002861 | Malignant melanoma | "A malignant skin tumor of originating from melanocytes, pigment cells normally present in the epidermis and sometimes in the dermis." [HPO:curators] |
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| HP:0002878 | Early respiratory failure | |
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| HP:0002885 | Medulloblastoma | |
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| HP:0002894 | Pancreatic cancer | |
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| HP:0002961 | Dysgammaglobulinemia | |
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| HP:0003002 | Breast cancer | |
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| HP:0003189 | Long nose | |
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| HP:0003202 | Amyotrophy | "The presence of muscular atrophy (which is also known as amyotrophy)." [HPO:curators] |
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| HP:0003220 | Tendency to chromosomal breakage | "A type of chromosomal aberration characterized by an increased susceptibility to chromosomal breakage induced by treatment of cultured lymphocytes with agents such as chemical mutagens, irradiation, and alkylating agents." [HPO:curators] |
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| HP:0004322 | Decreased body height | "A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms)." [HPO:curators] |
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| HP:0004326 | Cachexia | |
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| HP:0004798 | Gastrointestinal infections | |
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| HP:0005280 | Depressed nasal root and bridge | |
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| HP:0005403 | Reduced number of T cells | |
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| HP:0005425 | Recurrent sinopulmonary infections | |
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| HP:0005528 | Bone marrow hypoplasia | |
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| HP:0005602 | Progressive vitiligo | |
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| HP:0006532 | Pneumonia, recurrent episodes | |
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| HP:0006721 | Acute lymphatic leukemia | "A form of acute leukemia characterized by excess lympoblasts." [HPO:curators] |
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| HP:0007018 | Attention deficit hyperactivity disorder | "Attention deficit hyperactivity disorder (ADHD) manifests at age 2-3 years or by first grade at the latest. The main symptoms are distractibility, impulsivity, hyperactivity, and often trouble organizing tasks and projects, difficulty going to sleep, and social problems from being aggressive, loud, or impatient." [HPO:curators] |
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| HP:0008209 | Premature ovarian failure | |
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| HP:0009733 | Glioma | "A type of brain or spinal tumor originating from a glial cell. Gliomas can be classified as 1) ependymomas, 2) astrocytomas (including glioblastoma multiforme), 3 oligodendrogliomas, and 4) mixed gliomas, such as oligoastrocytomas." [HPO:curators] |
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| HP:0010620 | Prominent malar region | "Increased prominence of the malar region (cheeks)." [HPO:curators] |
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| HP:0010976 | Reduction in B cell number | "An abnormal decrease from the normal count of `B cells` (CL:0000236)." [HPO:probinson] |
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| HP:0010982 | Polygenic inheritance | "A type of multifactorial inheritance governed by the simultaneous action of many (more than three) gene loci." [HPO:probinson, ISBN:978-0192628961] |
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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:0011362 | Abnormal hair quantity | "An abnormal amount of hair." [DDD:cmoss] |
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| HP:0012125 | Prostate cancer | "A cancer of the `prostate` (FMA:9600)." [HPO:probinson] |
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| HP:0012190 | T-cell lymphoma | "A type of lymphoma that originates in T-cells." [HPO:probinson] |
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| HP:0012191 | B-cell lymphoma | "A type of lymphoma that originates in B-cells." [HPO:probinson] |
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| HP:0030406 | Primary peritoneal carcinoma | "A type of cancer that originates in the peritoneam. It is to be distinguished from metastatic cancer of the peritoneum. Peritoneal cancer can occur anywhere in the abdominal space, and affects the surface of organs contained inside the peritoneum." [HPO:probinson] |
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| HP:0100335 | Non-midline cleft lip | |
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| HP:0100515 | Pollakisuria | "Increased frequency of urination." [HPO:probinson] |
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| HP:0100615 | Ovarian neoplasm | "The presence of a `neoplasm` (MPATH:218) the `ovary` (FMA:7209)." [HPO:probinson] |
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