{"Name":"Axial spondylometaphyseal dysplasia","DiseaseID__c":"GARD:0008720","id":8720,"encodedName":"axial-spondylometaphyseal-dysplasia","IsDeleted":false,"Disease_Name_Full__c":"Axial spondylometaphyseal dysplasia","Xref_IDs__c":"771301002; C1865695; C535795; DOID:0112299; MEDGEN:356065; MONDO:0011211; OMIM:602271; ORPHA:168549","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":5,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":0,"World_Estimate__c":"1 to 8,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":4,"Disease_Characteristics_Score__c":7,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0011211","Disease_Description__c":"Axial spondylometaphyseal dysplasia is a genetic disorder of bone growth. The term axial means towards the center of the body. Sphondylos is a Greek term meaning vertebra. Metaphyseal dysplasia refers to abnormalities at the ends of long bones.Axial spondylometaphyseal dysplasia primarily affects the bones of the chest, pelvis, spine,upper arms and upper legs, and results in shortened stature.For reasons not well understood,this rare skeletal dysplasia is also associated withearly and progressivevision loss. The underlying genetic cause of axial spondylometaphyseal dysplasia is currently unknown.It is thought to be inherited in an autosomal recessive fashion.","GARD_Name__c":"Axial spondylometaphyseal dysplasia","GARD_Synonym__c":"axial smd","Curated_Disease_Description_Source__c":"GARD:0008720","Curated_Disease_Description__c":"Axial spondylometaphyseal dysplasia is a genetic disorder of bone growth. The term “axial” means towards the center of the body. “Sphondylos” is a Greek term meaning vertebra. “Metaphyseal dysplasia” refers to abnormalities at the ends of long bones. Axial spondylometaphyseal dysplasia primarily affects the bones of the chest, pelvis, spine, upper arms and upper legs, and results in shortened stature. For reasons not well understood, this rare skeletal dysplasia is also associated with early and progressive vision loss. The underlying genetic cause of Axial spondylometaphyseal dysplasia is currently unknown. It is thought to be inherited in an autosomal recessive fashion.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as an Infant and as a Child","SourceID__c":"ORPHA:168549","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0011211","ORPHANET_ID__c":"ORPHA:168549","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Displasia espondilometafisaria axial","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"displasia espondilometafisaria axial","Spanish_GARD_Synonym__c":null,"Category_Linearization__c":"ORPHA:93419","icd10_id__c":null,"mesh_id__c":null,"omim_id__c":null,"snomed_id__c":null,"umls_id__c":null,"GARD_Disease__c":[{"Curated_Disease_Description__c":"Axial spondylometaphyseal dysplasia is a genetic disorder of bone growth. The term “axial” means towards the center of the body. “Sphondylos” is a Greek term meaning vertebra. “Metaphyseal dysplasia” refers to abnormalities at the ends of long bones. Axial spondylometaphyseal dysplasia primarily affects the bones of the chest, pelvis, spine, upper arms and upper legs, and results in shortened stature. For reasons not well understood, this rare skeletal dysplasia is also associated with early and progressive vision loss. The underlying genetic cause of Axial spondylometaphyseal dysplasia is currently unknown. It is thought to be inherited in an autosomal recessive fashion.","Curated_Disease_Description_Source__c":"GARD:0008720","GARD_Synonym__c":"axial smd","Name":"Axial spondylometaphyseal dysplasia","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Little People of America","Website__c":"https://www.lpaonline.org/"},{"Account_Name__c":"European Reference Network on Bone Disorders","Website__c":"https://ernbond.eu/"},{"Account_Name__c":"Kniest SED Group","Website__c":"https://ksginfo.org/"}],"GARD_Disease_Tag__c":[{"Tag_Name__c":"Genetics","Tag_Category__c":"Cause;Disease Category;Specialist","category_description":"Genetic diseases affect the DNA, or genetic instructions, which directs how tissues, organs, and body systems function.","curated_tag_name":"Genetic diseases"},{"Tag_Name__c":"Ophthalmology","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Congenital Abnormality","Tag_Category__c":"Disease Category","category_description":"Birth defects are structural changes present at birth that can affect almost any part of the body, including how the body looks, works, or both.","curated_tag_name":"Birth defects"},{"Tag_Name__c":"Orthopedics","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Retinal","Tag_Category__c":"Account;Specialist","curated_tag_name":"Retinal disorders"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:168549"},{"Age_At_Onset__c":"Childhood","Provided_By__c":"ORPHA:168549"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C1865695"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.omim.org/entry/602271","Source__c":"C1865695; MONDO:0011211; ORPHA:168549","Xref__c":"OMIM:602271"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=356065","Source__c":"C1865695","Xref__c":"MEDGEN:356065"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1865695","Source__c":"C1865695","Xref__c":"C1865695"},{"URL__c":"https://www.orpha.net/en/disease/detail/168549","Source__c":"C1865695; MONDO:0011211; ORPHA:168549","Xref__c":"ORPHA:168549"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0112299","Source__c":"MONDO:0011211","Xref__c":"DOID:0112299"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C535795","Source__c":"MONDO:0011211","Xref__c":"C535795"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0011211","Source__c":"GARD:0008720","Xref__c":"MONDO:0011211"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=771301002","Source__c":"C1865695","Xref__c":"771301002"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"CFAP410","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:168549","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An infection of the upper or lower respiratory tract.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011947","HPO_Synonym__c":"Respiratory infection; Respiratory tract infection","HPO_Name__c":"Respiratory tract infection","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:168549","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Reduced visual acuity that is uncorrectable by lenses in the absence of detectable anatomic defects in the eye or visual pathways.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000646","HPO_Synonym__c":"Lazy eye; Wandering eye; Wandering eyes","HPO_Name__c":"Amblyopia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:168549","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Ossification of carpal bones occurs later than age-adjusted norms.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001216","HPO_Synonym__c":"Carpal delayed ossification; Delayed carpal bone age; Delayed carpal ossification; Delayed maturation of carpal bones","HPO_Name__c":"Delayed ossification of carpal bones","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:168549","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007663","HPO_Synonym__c":"Decreased central vision; Decreased clarity of vision; Decreased visual acuity; Poor visual acuity","HPO_Name__c":"Reduced visual acuity","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:168549","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Flattening of the superior part of the acetabulum, which is a cup-shaped cavity at the base of the hipbone into which the ball-shaped head of the femur fits. The acetabular roof thereby appears horizontal rather than arched, as it normally does.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003180","HPO_Synonym__c":"Acetabular angle flat; Flat acetabular roofs; Flattened acetabular roof; Horizontal acetabulae; Horizontal acetabular roof; Horizontal acetabular roofs","HPO_Name__c":"Flat acetabular roof","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:168549","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Atrophy of the optic nerve. Optic atrophy results from the death of the retinal ganglion cell axons that comprise the optic nerve and manifesting as a pale optic nerve on fundoscopy.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000648","HPO_Synonym__c":"Optic nerve atrophy; Optic-nerve degeneration","HPO_Name__c":"Optic atrophy","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:168549","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Retinal dystrophy is an abnormality of the retina associated with a hereditary process. Retinal dystrophies are defined by their predominantly monogenic inheritance and they are frequently associated with loss or dysfunction of photoreceptor cells as a primary or secondary event.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000556","HPO_Synonym__c":"Breakdown of light-sensitive cells in back of eye","HPO_Name__c":"Retinal dystrophy","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:168549","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Small hands and feet.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003086","HPO_Name__c":"Acromesomelia","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:168549","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0006712","HPO_Synonym__c":"Absent/small ribs; Absent/underdeveloped ribs; Hypoplastic or missing ribs","HPO_Name__c":"Aplasia/Hypoplasia of the ribs","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:168549","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A mild degree of slow or limited growth after birth, being between two and three standard deviations below age- and sex-related norms.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001530","HPO_Synonym__c":"Postnatal onset of mild growth retardation","HPO_Name__c":"Mild postnatal growth retardation","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:168549","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An inherited retinal disease subtype in which the rod photoreceptors appear to be more severely affected than the cone photoreceptors. Typical presentation is with nyctalopia (due to rod dysfunction) followed by loss of mid-peripheral field of vision, which gradually extends and leaves many patients with a small central island of vision due to the preservation of macular cones.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000510","HPO_Synonym__c":"Retinitis pigmentosa; Rod cone dystrophy","HPO_Name__c":"Rod-cone dystrophy","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:168549","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Irregularity of the normally smooth surface of the proximal metaphysis of the femur.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003411","HPO_Synonym__c":"Irregular proximal femoral metaphyses","HPO_Name__c":"Proximal femoral metaphyseal irregularity","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:168549","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A type of disproportionate short stature characterized by a short trunk but a average-sized limbs.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003521","HPO_Synonym__c":"Disproportionate short-trunked dwarfism; Disproportionate short-trunked short stature; Short-trunked dwarfism","HPO_Name__c":"Disproportionate short-trunk short stature","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:168549","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The upper eyelid margin is positioned 3 mm or more lower than usual and covers the superior portion of the iris (objective); or, the upper lid margin obscures at least part of the pupil (subjective).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000508","HPO_Synonym__c":"Blepharoptosis; Drooping upper eyelid; Eyelid ptosis; Palpebral ptosis","HPO_Name__c":"Ptosis","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:168549","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A cataract is an opacity or clouding that develops in the crystalline lens of the eye or in its capsule.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000518","HPO_Synonym__c":"Cataracts; Clouding of the lens of the eye; Cloudy lens; Lens opacities; Lens opacity","HPO_Name__c":"Cataract","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:168549","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Underdevelopment of the ilium ala.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002866","HPO_Synonym__c":"Hypoplastic iliac alae; Hypoplastic iliac wings; Small iliac wings","HPO_Name__c":"Hypoplastic iliac wing","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:168549","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The presence of an abnormal lateral curvature of the spine.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002650","HPO_Name__c":"Scoliosis","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:168549","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Rhythmic, involuntary oscillations of one or both eyes related to abnormality in fixation, conjugate gaze, or vestibular mechanisms.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000639","HPO_Synonym__c":"Involuntary, rapid, rhythmic eye movements","HPO_Name__c":"Nystagmus","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:168549","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008515","HPO_Synonym__c":"Absent/small vertebrae; Absent/underdeveloped vertebrae","HPO_Name__c":"Aplasia/Hypoplasia of the vertebrae","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:168549","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Progressive loss of peripheral retinal pigment epithelium (RPE) and/or neurosensory retinal cells.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007769","HPO_Name__c":"Peripheral retinal degeneration","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:168549","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Irregularities of the iliac crest that produce the appearance of a lace border around it.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008786","HPO_Synonym__c":"Irregular lacy iliac crest; Lacy appearance of iliac crest","HPO_Name__c":"Iliac crest serration","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:168549","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Any abnormal shape or structure of the metacarpal bones.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005916","HPO_Synonym__c":"Abnormal shape of long bones of hand; Abnormal shape of metacarpal bones","HPO_Name__c":"Abnormal metacarpal morphology","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:168549","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Reduced width of the chest from side to side, associated with a reduced distance from the sternal notch to the tip of the shoulder.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000774","HPO_Synonym__c":"Low chest circumference; Narrow chest; Narrow shoulders; Narrow thorax; Reduced anterior-posterior chest diameter","HPO_Name__c":"Narrow chest","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:168549","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Arm shortening because of underdevelopment of one or more bones of the upper extremity.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0009824","HPO_Synonym__c":"Hypoplasia involving bones of the upper limbs; Short arms; Shortening of the arms; Upper limb undergrowth","HPO_Name__c":"Upper limb undergrowth","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:168549","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A deficiency or slowing down of growth pre- and postnatally.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001510","HPO_Synonym__c":"Delayed growth; Growth deficiency; Growth delay; Growth failure; Growth retardation; Poor growth; Retarded growth","HPO_Name__c":"Growth delay","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:168549","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Elevated ratio between the upper and the lower segment of the body, where the lower segment is defined as the length between the top of pubic symphysis to floor, and the upper segment is defined as the top of head to top of pubic symphysis.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012774","HPO_Name__c":"Increased upper to lower segment ratio","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:168549","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An anomaly of the metaphysis of the proximal femur (close to the hip).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0006431","HPO_Synonym__c":"Abnormal wide portion of innermost thighbone; Proximal femoral metaphyseal abnormality","HPO_Name__c":"Abnormal proximal femoral metaphysis morphology","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:168549","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormality of the ilium, the largest and uppermost bone of the pelvis.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002867","HPO_Synonym__c":"Abnormality of the ilium; Iliac abnormalities","HPO_Name__c":"Abnormal ilium morphology","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:168549","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005257","HPO_Synonym__c":"Small chest; Small thorax","HPO_Name__c":"Thoracic hypoplasia","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:168549","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Reduced rib length.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000773","HPO_Synonym__c":"Hypoplastic ribs; Rib hypoplasia; Short ribs","HPO_Name__c":"Short ribs","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:168549","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0006603","HPO_Synonym__c":"Flared, irregular rib ends","HPO_Name__c":"Flared, irregular rib ends","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:168549","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Osteopenia is a term to define bone density that is not normal but also not as low as osteoporosis. By definition from the World Health Organization osteopenia is defined by bone densitometry as a T score -1 to -2.5.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000938","HPO_Synonym__c":"Generalized osteopenia","HPO_Name__c":"Osteopenia","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:168549","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormally flattened femoral head.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008812","HPO_Synonym__c":"Flat head of thigh bone","HPO_Name__c":"Flattened femoral head","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:168549","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Coxa vara includes all forms of decrease of the femoral neck shaft angle (the angle between the neck and the shaft of the femur) to less than 120 degrees.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002812","HPO_Name__c":"Coxa vara","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:168549","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Excessive sensitivity to light with the sensation of discomfort or pain in the eyes due to exposure to bright light.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000613","HPO_Synonym__c":"Extreme sensitivity of the eyes to light; Light hypersensitivity; Photodysphoria","HPO_Name__c":"Photophobia","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:168549","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002943","HPO_Name__c":"Thoracic scoliosis","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:168549","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Malformation of the rib cage.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000886","HPO_Synonym__c":"Deformed rib cage","HPO_Name__c":"Deformed rib cage","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:168549","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Wide, concave rib end.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000887","HPO_Synonym__c":"Cupped ribs; Rib cupping","HPO_Name__c":"Cupped ribs","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:168549","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Respiratory difficulty as newborn.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002643","HPO_Synonym__c":"Infantile respiratory distress; Neonatal respiratory distress; Newborn respiratory distress; Respiratory distress, neonatal","HPO_Name__c":"Neonatal respiratory distress","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:168549","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0045027","HPO_Name__c":"Abnormality of the thoracic cavity","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:168549","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A flattened vertebral body shape with reduced distance between the vertebral endplates.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000926","HPO_Synonym__c":"Flat vertebral bodies; Flattened vertebrae; Flattened vertebral bodies","HPO_Name__c":"Platyspondyly","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:168549","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A narrowing of the sacrosciatic notch, i.e., the deep indentation in the posterior border of the hip bone at the point of union of the ilium and ischium.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003375","HPO_Synonym__c":"Narrow greater sacrosciatic notches; Narrow sacroiliac notch; Narrow sacrosciatic notch; Narrow sciatic notches; Narrowed greater sciatic notch; Narrowed sacrosciatic notch; Small sacrosciatic notch; Small sacrosciatic notches","HPO_Name__c":"Narrow greater sciatic notch","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:168549","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormality of the shape of vertebrae, such that they are wedge-shaped (narrow towards the back).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008444","HPO_Synonym__c":"Posterior wedging","HPO_Name__c":"Posterior wedging of vertebral bodies","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:168549","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A form of colorblindness in which only two of the three fundamental colors can be distinguished due to a lack of one of the retinal cone pigments.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007641","HPO_Synonym__c":"Color blindness","HPO_Name__c":"Dyschromatopsia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:168549","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0006589","HPO_Synonym__c":"Flaring of lower rib cage","HPO_Name__c":"Flaring of lower rib cage","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:168549","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormally short femoral neck (which is the process of bone, connecting the femoral head with the femoral shaft).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100864","HPO_Synonym__c":"Hypoplasia of the femoral neck; Hypoplastic femoral neck; Short femoral necks; Short neck of thighbone","HPO_Name__c":"Short femoral neck","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:168549","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A height below that which is expected according to age and sex 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 sex (or below the 3rd percentile for age and sex dependent norms).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004322","HPO_Synonym__c":"Decreased body height; Height less than 3rd percentile; Short stature; Small stature; Stature below 3rd percentile","HPO_Name__c":"Short stature","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Congenital Abnormality"],"Specialist":["Genetics","Ophthalmology","Orthopedics","Retinal","Pediatrics"],"Account":["Retinal"]},"synonyms":["axial smd"]}