| 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:0000047 | Hypospadias | "Displacement of the urethral opening on the ventral (inferior) surface of the penis." [HPO:curators] |
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| HP:0000054 | Micropenis | |
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| HP:0000059 | Hypoplastic labia majora | |
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| HP:0000162 | Glossoptosis | |
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| HP:0000188 | Short upper lip | |
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| HP:0000216 | Broad secondary alveolar ridge | |
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| HP:0000233 | Thin vermillion border | |
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| HP:0000238 | Hydrocephalus | |
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| HP:0000268 | Dolichocephaly | |
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| HP:0000316 | Hypertelorism | |
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| HP:0000322 | Short philtrum | |
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| HP:0000331 | Small chin | |
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| HP:0000347 | Mandibular hypoplasia | "Underdevelopment of the mandible." [HPO:curators] |
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| HP:0000348 | High forehead | "An abnormally increased height of the forehead." [HPO:curators] |
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| HP:0000365 | Hearing loss | |
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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:0000463 | Nares, anteverted | "Anteriorly-facing nostrils viewed with the head in the Frankfurt horizontal and the eyes of the observer level with the eyes of the subject." [pmid:19152422] |
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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:0000520 | Proptosis | |
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| HP:0000582 | Upslanting palpebral fissures | |
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| HP:0000647 | Sclerocornea | |
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| HP:0000653 | Sparse eyelashes | "Decreased density/number of eyelashes." [pmid:19125427] |
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| HP:0000750 | Impaired language development | |
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| HP:0000773 | Short ribs | |
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| HP:0000954 | Transverse palmar creases | "The presence of a single palmar crease (instead of the two palmar creases that are typically present)." [HPO:curators] |
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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:0001182 | Tapered fingers | |
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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: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:0001276 | Hypertonia | |
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| HP:0001302 | Pachygyria | "A congenital abnormality of the cerebral hemisphere chacterized by unusually thick gyrations (convolutions) of the cerebral cortex." [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:0001525 | Severe failure to thrive | |
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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:0001631 | Atrial septal defect | "Atrial septal defect (ASD) is a congenital heart defect that enables blood flow between the left and right atria via the interatrial septum. The three common types of ASD are sinus venosus defects, ostium secundum defects, and ostium primum defects." [HPO:curators] |
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| HP:0001636 | Tetralogy of Fallot | "A congenital cardiac malformation comprising pulmonary stenosis, overriding aorta, ventricular septum defect, and right ventricular hypertrophy. The diagnosis of TOF is made if at least three of the four above mentioned features are present." [HPO:curators] |
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| HP:0001638 | Cardiomyopathy | |
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| HP:0001640 | Cardiomegaly | |
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| HP:0001789 | Hydrops fetalis | |
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| HP:0001838 | Vertical talus | |
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| HP:0001840 | Metatarsus varus | "Metatarsus varus (adductus) is one of the most common foot deformities, that is defined as a transverse plane deformity in Lisfranc s (tarsometatarsal) joints in which the metatarsals are deviated medially. The relationship between talus and calcaneus is normal. On inspection the toes angle abruptly towards the midline, creating a C-shaped lateral foot border with a prominent styloid process of the 5th metatarsal. The result is that the forefoot is twisted inwards relative to the heel, so that the sole faces the midline." [HPO:curators] |
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| HP:0001920 | Renal artery stenosis | |
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| HP:0002015 | Dysphagia | "Difficulty in swallowing." [HPO:curators] |
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| HP:0002021 | Pyloric stenosis | |
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| HP:0002092 | Pulmonary hypertension | |
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| HP:0002139 | Arrhinencephaly | |
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| HP:0002209 | Sparse scalp hair | "Sparseness of the `head hair` (FMA:54241)." [HPO:probinson] |
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| HP:0002307 | Drooling | |
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| HP:0002317 | Unsteady gait | |
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| HP:0002376 | Developmental regression | |
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| HP:0002529 | Neuropathology shows neuronal loss in basal ganglia, brainstem, and cerebellum | |
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| HP:0002696 | Abnormality of the parietal bone | "Any abnormality of the parietal bones of the skull." [HPO:curators] |
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| HP:0002705 | High, narrow palate | "The presence of a high and narrow palate." [HPO:curators] |
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| HP:0002827 | Dislocated hips | |
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| HP:0003015 | Metaphyseal flaring | "The presence of splayed (i.e.,flared) metaphyseal segments of the long bones." [HPO:curators] |
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| HP:0003676 | Progressive disorder | |
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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:0004331 | Decreased skull ossification | "A reduction in the magnitude or amount of ossification of the skull." [HPO:curators] |
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| HP:0004993 | slender long bones with narrow diaphyses | |
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| HP:0005793 | Absent/hypoplastic distal phalanges of hands and feet | |
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| HP:0005819 | Abnormally short and broad middle phalanges | |
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| HP:0005989 | Redundant neck skin | |
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| HP:0006323 | Premature deciduous tooth loss | |
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| HP:0006628 | Absent sternal ossification | |
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| HP:0006709 | Aplasia/Hypoplasia of the nipples | |
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| HP:0006710 | Aplasia/Hypoplasia of the clavicles | "Absence or underdevelopment of the clavicles (collar bones)." [HPO:curators] |
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| HP:0006713 | Aplasia/Hypoplasia of the scapulae | |
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| HP:0006957 | Loss of ability to walk | |
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| HP:0007333 | Hypoplastic frontal lobes | "Underdevelopment of the frontal lobe of the cerebrum." [HPO:sdoelken] |
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| HP:0007633 | Bilateral microphthalmos | "A developmental anomaly characterized by abnormal smallness of both eyes." [HPO:curators] |
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| HP:0008386 | Aplasia/Hypoplasia of the nails | |
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| HP:0008665 | Hypertrophic clitoris | |
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| HP:0008897 | Growth retardation, progressive | |
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| HP:0008935 | Hypotonia, neonatal, generalized | |
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| HP:0009777 | Aplasia of the thumb | "Absent thumb." [HPO:curators] |
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| HP:0009881 | Aplasia of the distal phalanges of the hand | |
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| HP:0010035 | Aplasia of the 1st metacarpal | "In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits." [HPO:curators] |
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| HP:0010067 | Aplasia/Hypoplasia of the 1st metatarsal | |
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| HP:0010102 | Aplasia of the distal phalanx of the hallux | |
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| HP:0010107 | Hypoplastic/small proximal phalanx of the hallux | |
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| HP:0010537 | Wide cranial sutures | "An abnormally increased width of the cranial sutures." [HPO:curators] |
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| HP:0010880 | Increased nuchal translucency | "The presence of an abnormally large hypoechoic space in the posterior fetal neck (usually detected on prenatal ultrasound examination)." [HPO:probinson, pmid:12751779] |
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| HP:0011061 | Abnormality of dental structure | "An abnormality of the structure or composition of the teeth." [HPO:ibailleulforestier] |
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| HP:0011451 | Congenital microcephaly | "Microcephaly (HP:0000252) that is present already at the time of birth." [HPO:probinson] |
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| HP:0012179 | Craniofacial dystonia | "A form of focal dystonia affecting the face, head or neck muscles." [HPO:probinson] |
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| HP:0012294 | Abnormality of the occipital bone | "Abnormality of the `occipital bone` (FMA:52735) of the skull." [HPO:probinson] |
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| HP:0012809 | Narrow nasal base | "Decreased distance between the attachments of the alae nasi to the face." [HPO:probinson, pmid:19152422] |
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| HP:0030816 | Gingival recession | "The loss of gum tissue. The result is that gum tissue is recessed and its position on the tooth is lowered, exposing the roots of the teeth." [] |
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| HP:0040111 | Bilateral external ear deformity | |
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| HP:0040163 | Abnormal pelvis bone morphology | |
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| HP:0045075 | Sparse eyebrow | "Decreased density/number of eyebrow hairs." [HPO:skoehler] |
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| HP:0100817 | Renovascular hypertension | "The presence of `hypertension` (HP:0000822) related to stenosis of the `renal artery` (FMA:14751)." [HPO:probinson] |
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