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Traits
Traits linked to ROR2
ROR family WNT receptor 2
The Human Phenotype Ontology links 151 traits to ROR2, by body system: features seen in people with one of the gene's rare conditions.
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Abnormality of head or neck
Abnormality of limbs
Abnormality of the musculoskeletal system
| Trait | Kui sageli seda täheldatakse |
|---|---|
| Missing part of vertebrae | Väga sageli (80–99%) |
| Rib fusion | Väga sageli (80–99%) |
| Vertebral segmentation defect | Väga sageli (80–99%) |
| Double-Jointed | Sageli (30–79%) |
| Funnel chest | Sageli (30–79%) |
| Hunched back | Sageli (30–79%) |
| Scoliosis | Sageli (30–79%) |
| Abnormality of the hip bone | Mõnikord (5–29%) |
| Permanent flexion of the finger or toe | Mõnikord (5–29%) |
| Pigeon chest | Mõnikord (5–29%) |
| Delayed bone maturation | Pole registreeritud |
| Missing ribs | Pole registreeritud |
| Short long bone | Pole registreeritud |
| Small sacrum | Pole registreeritud |
| Thoracic hemivertebrae | Pole registreeritud |
| Thoracolumbar scoliosis | Pole registreeritud |
| Vertebral fusion | Pole registreeritud |
Abnormality of the genitourinary system
| Trait | Kui sageli seda täheldatakse |
|---|---|
| Short penis | Alati |
| Underdeveloped penis | Väga sageli (80–99%) |
| Hydronephrosis | Sageli (30–79%) |
| Increased calcium level in kidney | Sageli (30–79%) |
| Kidney stone | Sageli (30–79%) |
| Underdeveloped female external genitalia | Sageli (30–79%) |
| Underdeveloped inner lips | Sageli (30–79%) |
| Undescended testes | Sageli (30–79%) |
| Hypospadias | Mõnikord (5–29%) |
| Multicystic kidney dysplasia | Mõnikord (5–29%) |
| Small labia majora | Mõnikord (5–29%) |
| Small clitoris | Pole registreeritud |
Abnormality of the integument
| Trait | Kui sageli seda täheldatakse |
|---|---|
| Small nail | Alati |
| Abnormal fingernail development | Sageli (30–79%) |
| Atypical nail growth | Sageli (30–79%) |
| Beauty mark | Mõnikord (5–29%) |
| Hair loss | Mõnikord (5–29%) |
| port-wine stain | Mõnikord (5–29%) |
| Spinal dimple | Mõnikord (5–29%) |
| Absent nails | Pole registreeritud |
| Small fingernail | Pole registreeritud |
Abnormality of the cardiovascular system
| Trait | Kui sageli seda täheldatakse |
|---|---|
| Abnormal aortic morphology | Mõnikord (5–29%) |
| Abnormal pulmonary valve morphology | Mõnikord (5–29%) |
| Abnormal tricuspid valve morphology | Mõnikord (5–29%) |
| Abnormality of the heart | Mõnikord (5–29%) |
| An opening in the wall separating the top two chambers of the heart | Mõnikord (5–29%) |
| Hole in heart wall separating two lower heart chambers | Mõnikord (5–29%) |
| Tetralogy of Fallot | Mõnikord (5–29%) |
| Right ventricular outlet tract obstruction | Pole registreeritud |
Abnormality of the ear
| Trait | Kui sageli seda täheldatakse |
|---|---|
| Chronic infections of the middle ear | Sageli (30–79%) |
| Ears rotated toward back of head | Sageli (30–79%) |
| Hearing impairment | Sageli (30–79%) |
| Low-set ears | Sageli (30–79%) |
| Small ears | Mõnikord (5–29%) |
Abnormality of the eye
| Trait | Kui sageli seda täheldatakse |
|---|---|
| Wide-set eyes | Väga sageli (80–99%) |
| Bulging eye | Sageli (30–79%) |
| Blue outer white part of eyeball | Mõnikord (5–29%) |
| Cross-eyed | Mõnikord (5–29%) |
| Drooping upper eyelid | Mõnikord (5–29%) |
Abnormality of the digestive system
| Trait | Kui sageli seda täheldatakse |
|---|---|
| Umbilical hernia | Sageli (30–79%) |
| Abnormal anus position | Mõnikord (5–29%) |
| Inguinal hernia | Mõnikord (5–29%) |
| Extra kidney | Pole registreeritud |
Abnormality of the nervous system
| Trait | Kui sageli seda täheldatakse |
|---|---|
| Intellectual disability | Mõnikord (5–29%) |
| Global developmental delay | Pole registreeritud |
Growth abnormality
| Trait | Kui sageli seda täheldatakse |
|---|---|
| Short stature | Alati |
| Disproportionate short-limb short stature | Väga sageli (80–99%) |
Abnormality of the immune system
| Trait | Kui sageli seda täheldatakse |
|---|---|
| Recurrent respiratory infections | Mõnikord (5–29%) |
Kui sageli see esineb geenist tulenevate seisunditega inimeste seas, kõige sagedamini nende kõigi seas, nagu on märgitud Inimese fenotüübi ontoloogias. Need lehed kirjeldavad tunnuseid ja nende taga olevaid uuringuid; need ei ole diagnoos ning sümptomite kohta tuleks küsida arstilt või geneetilt nõustajalt.
Allikas
- The Human Phenotype Ontology, release 2026-09-01: the traits linked to ROR2 and how often each is seen. Find out more at hpo.jax.org.
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