| HP:0000003 | Multicystic kidney | "Multicystic dysplasia of the kidney is characterized by multiple cysts of varying size in the kidney and the absence of a normal pelvocaliceal system. The condition is associated with ureteral or ureteropelvic atresia, and the affected kidney is nonfunctional." [HPO:curators] |
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| 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:0000028 | Cryptorchidism | "Absence of one or both testes from the scrotum owing to failure of the testis or testes to descend through the inguinal canal to the testis." [HPO:curators] |
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| HP:0000042 | Absent external genitalia | |
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| HP:0000068 | Urethral atresia | |
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| HP:0000104 | Renal agenesis | |
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| HP:0000148 | Vaginal atresia | |
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| HP:0000160 | Microstomia | "The presence of an abnormally small `mouth` (FMA:49184)." [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:0000202 | Cleft lip/palate | |
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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:0000238 | Hydrocephalus | |
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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:0000453 | Choanal atresia | "Absence or abnormal closure of the choana (the posterior nasal aperture)." [HPO:curators] |
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| HP:0000482 | Microcornea | "A congenital abnormality of the `cornea` (FMA:58238) in which the cornea and the anterior segment of the eye are smaller than normal. The horizontal diameter of the cornea does not reach 10 mm even in adulthood." [HPO:probinson] |
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| HP:0000518 | Cataract | "A cataract is an opacity or clouding that develops in the crystalline `lens` (FMA:58241) of the eye or in its `capsule` (FMA:58881)." [HPO:probinson] |
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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:0000612 | Iris coloboma | "A `coloboma` (HP:0000589) of the `iris` (FMA:58235)." [HPO:probinson] |
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| HP:0000648 | Optic atrophy | |
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| HP:0000775 | Abnormality of the diaphragm | "Any abnormality of the diaphragm." [HPO:curators] |
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| HP:0000921 | Missing ribs | |
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| HP:0001195 | Single umbilical artery | |
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| HP:0001274 | Agenesis of corpus callosum | "Absence of the corpus callosum as a result of the failure of the corpus callosum to develop, which can be the result of a failure in any one of the multiple steps of callosal development including cellular proliferation and migration, axonal growth or glial patterning at the midline." [HPO:curators] |
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| HP:0001425 | Heterogeneous | |
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| HP:0001543 | Gastroschisis | |
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| HP:0001561 | Polyhydramnios | |
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| HP:0001600 | Abnormality of the larynx | |
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| HP:0001746 | Asplenia | "Absence (aplasia) of the spleen." [HPO:curators] |
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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:0002089 | Pulmonary hypoplasia | |
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| HP:0002101 | Abnormal lung lobation | "Defects in the formation of pulmonary lobules." [HPO:curators] |
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| HP:0002777 | Tracheal stenosis | |
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| HP:0003057 | Tetraamelia | "`Amelia` (HP:0009827) of all four limbs." [HPO:sdoelken] |
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| HP:0005316 | Peripheral pulmonary vessel aplasia | |
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| HP:0006703 | Aplasia/Hypoplasia of the lungs | |
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| HP:0006709 | Aplasia/Hypoplasia of the nipples | |
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| HP:0008551 | Underdeveloped ears | |
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| HP:0008697 | Rudimentary fallopian tubes | |
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| HP:0008839 | Hypoplastic pelvis | |
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| HP:0009103 | Aplasia/Hypoplasia involving the pelvis | |
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| HP:0009924 | Aplasia/Hypoplasia involving the nose | "Underdevelopment or absence of the nose or parts thereof." [HPO:curators] |
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| HP:0009932 | Single nostril | "The presence of only a single `nostril` (FMA:59645)." [pmid:19152422] |
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| HP:0011743 | Adrenal gland agenesis | "Absent development of the adrenal gland." [DDD:spark] |
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| HP:0100569 | Abnormality of ossification/mineralisation of vertebrae | |
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| HP:0100842 | Septo-optic dysplasia | "Underdevelopment of the optic nerve and absence of the septum pellucidum." [HPO:sdoelken] |
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