{"Name":"Legius syndrome","DiseaseID__c":"GARD:0010714","id":10714,"encodedName":"legius-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Legius syndrome","Xref_IDs__c":"703541007; C176941; C1969623; C548032; DOID:0070484; MEDGEN:370709; MONDO:0012669; NBK47312; OMIM:611431; ORPHA:137605","USA_Estimate__c":"50,000","No_of_Specialist_Tagsa__c":5,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":1,"No_of_HHS_records__c":1,"World_Estimate__c":"80,000 to 800,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":3,"No_of_Disease_Descriptions__c":4,"Disease_Characteristics_Score__c":8,"No_of_Age_at_Onset__c":3,"Description_Source__c":"MONDO:0012669","Disease_Description__c":"Legius syndrome, also known as NF1-like syndrome, is a rare, genetic skin pigmentation disorder characterized by multiple café-au-lait macules with or without axillary or inguinal freckling.","GARD_Name__c":"Legius syndrome","GARD_Synonym__c":"neurofibromatosis 1-like syndrome; neurofibromatosis type 1-like syndrome; nf1-like syndrome; nfls - neurofibromatosis type 1-like syndrome","Curated_Disease_Description_Source__c":"MONDO:0012669","Curated_Disease_Description__c":"Legius syndrome is a condition characterized by changes in skin coloring (pigmentation).  Almost all affected individuals have multiple café-au-lait spots, which are flat patches on the skin that are darker than the surrounding area. Another pigmentation change, freckles in the armpits and groin, may occur in some affected individuals. Other signs and symptoms of Legius syndrome may include an abnormally large head (macrocephaly) and unusual facial characteristics. Although most people with Legius syndrome have normal intelligence, some affected individuals have been diagnosed with learning disabilities, attention-deficit disorder (ADD), or attention-deficit/hyperactivity disorder (ADHD). Many of the signs and symptoms of Legius syndrome also occur in a similar disorder called neurofibromatosis type 1. It can be difficult to tell the two disorders apart in early childhood. However, the features of the two disorders differ later in life.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"50,000","Age_at_Onset_Snippet_Text__c":"from Birth to Childhood","SourceID__c":"ORPHA:137605","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0012669","ORPHANET_ID__c":"ORPHA:137605","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de legius","Spanish_Description_Source__c":"ORPHA:137605","Spanish_Description__c":"El síndrome de Legius, también conocido como síndrome tipo NF1, es un trastorno genético raro de la pigmentación de la piel caracterizado por múltiples máculas de color de café con leche con o sin pecas axilares o inguinales.","Spanish_Disease_Name__c":"síndrome de legius","Spanish_GARD_Synonym__c":"lgss sin mosaicismo; síndrome de legius sin mosaicismo; síndrome similar a neurofibromatosis 1; síndrome similar a nf1","Category_Linearization__c":"ORPHA:89826","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":"Legius syndrome is a condition characterized by changes in skin coloring (pigmentation).  Almost all affected individuals have multiple café-au-lait spots, which are flat patches on the skin that are darker than the surrounding area. Another pigmentation change, freckles in the armpits and groin, may occur in some affected individuals. Other signs and symptoms of Legius syndrome may include an abnormally large head (macrocephaly) and unusual facial characteristics. Although most people with Legius syndrome have normal intelligence, some affected individuals have been diagnosed with learning disabilities, attention-deficit disorder (ADD), or attention-deficit/hyperactivity disorder (ADHD). Many of the signs and symptoms of Legius syndrome also occur in a similar disorder called neurofibromatosis type 1. It can be difficult to tell the two disorders apart in early childhood. However, the features of the two disorders differ later in life.","Curated_Disease_Description_Source__c":"MONDO:0012669","GARD_Synonym__c":"neurofibromatosis 1-like syndrome; neurofibromatosis type 1-like syndrome; nf1-like syndrome; nfls - neurofibromatosis type 1-like syndrome","Name":"Legius syndrome","Curated_USA_Estimate__c":"50,000","estimateUsa":"50,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"RASopathies Network","Website__c":"https://rasopathiesnet.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":"Neurology","Tag_Category__c":"Disease Category;Specialist","category_description":"Neurological diseases affect the brain, spinal cord, cranial nerves, autonomic nerves, or other peripheral nerves.","curated_tag_name":"Neurological diseases"},{"Tag_Name__c":"Dermatology","Tag_Category__c":"Account;Disease Category;Specialist","category_description":"Skin diseases, or integumentary system diseases, affect the skin, hair, nails, sweat glands, or oil glands.","curated_tag_name":"Skin diseases"},{"Tag_Name__c":"Neurodevelopmental disabilities","Tag_Category__c":"Specialist","curated_tag_name":"Neurodevelopmental disabilities"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Childhood","Provided_By__c":"ORPHA:137605"},{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:137605"},{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:137605"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C1969623"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0010714","Source__c":"RareSource"},{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK47312","Source__c":"Gene Review","Xref__c":"NBK47312"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=370709","Source__c":"C1969623","Xref__c":"MEDGEN:370709"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0070484","Source__c":"MONDO:0012669","Xref__c":"DOID:0070484"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1969623","Source__c":"C1969623","Xref__c":"C1969623"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C176941","Source__c":"C1969623; MONDO:0012669","Xref__c":"C176941"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=703541007","Source__c":"C1969623; MONDO:0012669","Xref__c":"703541007"},{"URL__c":"https://www.orpha.net/en/disease/detail/137605","Source__c":"C1969623; MONDO:0012669; ORPHA:137605","Xref__c":"ORPHA:137605"},{"URL__c":"https://www.omim.org/entry/611431","Source__c":"C1969623; MONDO:0012669; ORPHA:137605","Xref__c":"OMIM:611431"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C548032","Source__c":"MONDO:0012669","Xref__c":"C548032"},{"URL__c":"https://medlineplus.gov/genetics/condition/legius-syndrome","Source__c":"GARD:0010714","Xref__c":"https://medlineplus.gov/genetics/condition/legius-syndrome"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0012669","Source__c":"GARD:0010714","Xref__c":"MONDO:0012669"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"SPRED1","GHR_URL__c":"https://medlineplus.gov/genetics/gene/spred1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:137605","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"A narrowing of the right ventricular outflow tract that can occur at the pulmonary valve (valvular stenosis), below the pulmonary valve (infundibular stenosis), or above the pulmonary valve (supravalvar stenosis).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001642","HPO_Synonym__c":"Narrowing of pulmonic valve; Pulmonary stenosis; Pulmonary valve stenosis; Pulmonic valve stenosis","HPO_Name__c":"Pulmonic stenosis","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:137605","HPO_Frequency__c":"Uncommon (<1-4%)","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:137605","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Clinodactyly refers to a bending or curvature of the fifth finger in the radial direction (i.e., towards the 4th finger).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004209","HPO_Synonym__c":"Bilateral fifth digit clinodactyly; Bilateral fifth finger clinodactyly; Clinodactyly of fifth digit; Clinodactyly of the little finger; Fifth finger clinodactyly; Permanent curving of the pinkie finger","HPO_Name__c":"Clinodactyly of the 5th finger","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:137605","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"A tumor (abnormal growth of tissue) of the ovary.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100615","HPO_Synonym__c":"Neoplasm of the ovaries; Neoplasm of the ovary; Ovarian tumor","HPO_Name__c":"Ovarian neoplasm","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:137605","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"A congenital anomaly characterized by the presence of supernumerary fingers or toes.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010442","HPO_Synonym__c":"More than five fingers or toes on hands or feet","HPO_Name__c":"Polydactyly","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:137605","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Abnormal cognition is characterized by deficits in thinking, reasoning, or remembering.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100543","HPO_Synonym__c":"Abnormality of cognition; Cognitive abnormality; Cognitive defects; Cognitive deficits; Cognitive impairment; Intellectual impairment","HPO_Name__c":"Cognitive impairment","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:137605","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"The accumulation of transformed primitive hematopoietic blast cells, which lose their ability of normal differentiation and proliferation.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004845","HPO_Synonym__c":"Acute monoblastic leukemia; AML-M5; AMoL","HPO_Name__c":"Acute monocytic leukemia","Feature_System__c":"Immune System; Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:137605","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Impairment of certain skills such as reading or writing, coordination, self-control, or attention that interfere with the ability to learn. The impairment is not related to a global deficiency of intelligence.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001328","HPO_Name__c":"Specific learning disability","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:137605","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Occipitofrontal (head) circumference greater than 97th centile compared to appropriate, age matched, sex-matched normal standards. Alternatively, a apparently increased size of the cranium.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000256","HPO_Synonym__c":"Increased size of cranium; Increased size of skull; Large head; Large head circumference; Macrocephalus; Macrocrania; Megacephaly","HPO_Name__c":"Macrocephaly","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:137605","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Reduced attention span characterized by distractibility and impulsivity.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000736","HPO_Synonym__c":"Easily distracted; Easy distractibility; High distractibility; Poor attention span; Problem paying attention; Short attention span","HPO_Name__c":"Short attention span","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:137605","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"An anomaly of metabolism or structure of the brain identified by imaging.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0410263","HPO_Synonym__c":"Abnormal brain imaging","HPO_Name__c":"Brain imaging abnormality","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:137605","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Atypical behavior is an abnormality in a person's actions that can be controlled or modulated by the will of the individual. While abnormal behaviors can be difficult to control, they are distinct from other abnormal actions that cannot be affected by the individual's will.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000708","HPO_Synonym__c":"Behavioral abnormality; Behavioral changes; Behavioral disorders; Behavioral disturbances; Behavioral problems; Behavioral symptoms; Behavioral/psychiatric abnormalities; Behavioural symptoms; Behavioural/Psychiatric abnormality; Psychiatric disorders; Psychiatric disturbances","HPO_Name__c":"Atypical behavior","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:137605","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"A seizure is an intermittent abnormality of nervous system physiology characterized by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001250","HPO_Synonym__c":"Epileptic seizure; Seizures","HPO_Name__c":"Seizure","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:137605","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"A degree of language development that is significantly below the norm for a child of a specified age.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000750","HPO_Synonym__c":"Deficiency of speech development; Delayed language development; Delayed speech; Delayed speech acquisition; Delayed speech and language development; Delayed speech development; Impaired speech and language development; Impaired speech development; Language delay; Language delayed; Language development deficit; Late-onset speech development; Poor language development; Speech and language delay; Speech and language difficulties; Speech delay","HPO_Name__c":"Delayed speech and language development","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:137605","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"The presence in the inguinal region (groin) of an increased number of freckles, small circular spots on the skin that are darker than the surrounding skin because of deposits of melanin.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030052","HPO_Synonym__c":"Freckles in groin region","HPO_Name__c":"Inguinal freckling","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:137605","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Arnold-Chiari type I malformation refers to a relatively mild degree of herniation of the posteroinferior region of the cerebellum (the cerebellar tonsils) into the cervical canal with little or no displacement of the fourth ventricle. It is characterized by one or both pointed (not rounded) cerebellar tonsils that project 5 mm below the foramen magnum, measured by a line drawn from the basion to the opisthion (McRae Line)","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007099","HPO_Synonym__c":"Arnold Chiari type I malformation; Arnold-Chiari type I malformation; Chiari I malformation","HPO_Name__c":"Chiari type I malformation","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:137605","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"A type of Developmental delay characterized by a delay in acquiring motor skills.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001270","HPO_Synonym__c":"Delay in development of motor milestones; Delay in motor development; Delayed development of motor milestones; Delayed early motor milestones; Delayed motor development; Delayed motor milestones; Locomotor delay; Motor developmental delay; Motor developmental milestones not achieved; Motor retardation; Retarded motor development; Slow development of motor milestones","HPO_Name__c":"Motor delay","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:137605","HPO_Frequency__c":"Excluded (0%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100252","HPO_Name__c":"Diaphyseal dysplasia","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:137605","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030358","HPO_Synonym__c":"Non-small cell lung cancer","HPO_Name__c":"Non-small cell lung carcinoma","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:137605","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"One or both of the leaflets (cusps) of the mitral valve bulges back into the left atrium upon contraction of the left ventricle.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001634","HPO_Name__c":"Mitral valve prolapse","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:137605","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Hyperactivity is a condition characterized by constant and unusually high levels of activity, even in situations where it is deemed inappropriate.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000752","HPO_Synonym__c":"Hyperactive behavior; Hyperkinetic disorder; More active than typical","HPO_Name__c":"Hyperactivity","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:137605","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"A vestibular schwannoma (also known as acoustic neuroma, acoustic neurinoma, or acoustic neurilemoma) is a benign, usually slow-growing tumor that develops from the VIIIth cranial nerve supplying the inner ear.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0009588","HPO_Synonym__c":"Acoustic Neuroma; Vestibular neurilemmoma; Vestibular neurinoma; Vestibular neurolemmoma; Vestibular Schwann cell tumor","HPO_Name__c":"Vestibular schwannoma","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:137605","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"The presence in the axillary region (armpit) of an increased number of freckles, small circular spots on the skin that are darker than the surrounding skin because of deposits of melanin.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000997","HPO_Name__c":"Axillary freckling","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:137605","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0006671","HPO_Name__c":"Paroxysmal atrial tachycardia","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:137605","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"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_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007018","HPO_Synonym__c":"ADHD; Attention deficit; Attention deficit disorder; Attention deficit-hyperactivity disorder; Attention deficits; Childhood attention deficit/hyperactivity disorder","HPO_Name__c":"Attention deficit hyperactivity disorder","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:137605","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a muscle). Even when relaxed, muscles have a continuous and passive partial contraction which provides some resistance to passive stretching. Hypotonia thus manifests as diminished resistance to passive stretching. Hypotonia is not the same as muscle weakness, although the two conditions can co-exist.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001252","HPO_Synonym__c":"Low muscle tone; Low or weak muscle tone; Muscle hypotonia; Muscular hypotonia","HPO_Name__c":"Hypotonia","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:137605","HPO_Frequency__c":"Excluded (0%)","Feature__r":{"HPO_Description__c":"A benign peripheral nerve sheath tumor that generally appears as a soft, skin-colored papule or small subcutaneous nodule. Individuals with neurofibromatosis can have numerous neurofibromas.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001067","HPO_Synonym__c":"Neurofibromata; Neurofibromatosis","HPO_Name__c":"Neurofibroma","Feature_System__c":"Nervous System; Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:137605","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"A decreased magnitude of the sensory perception of sound.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000365","HPO_Synonym__c":"Deafness; Hearing defect; Hearing impairment; Hypacusis","HPO_Name__c":"Hearing impairment","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:137605","HPO_Frequency__c":"Excluded (0%)","Feature__r":{"HPO_Description__c":"A neoplasm of the central nervous system.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100006","HPO_Synonym__c":"Neoplasm of the CNS; Tumors of the central nervous system","HPO_Name__c":"Neoplasm of the central nervous system","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:137605","HPO_Frequency__c":"Excluded (0%)","Feature__r":{"HPO_Description__c":"A glioma originating in the optic nerve or optic chiasm.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0009734","HPO_Synonym__c":"Optic glioma","HPO_Name__c":"Optic nerve glioma","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:137605","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"The presence of xanthomata in the skin of the eyelid.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001114","HPO_Synonym__c":"Fatty deposits in skin around the eyes; Fatty deposits on eyelids; Xanthelasma palpebrarum; Xanthoma","HPO_Name__c":"Xanthelasma","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:137605","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Benign, slow-growing tumors without any metastatic potential. Despite their benign nature, they can damage nearby structures causing organ dysfunction. Histologically they resemble low-grade fibrosarcomas, but they are very locally aggressive and tend to recur even after complete resection. There is a tendency for recurrence in the setting of prior surgery and the most common localisation of these tumors is intraabdominal from smooth muscle cells of the instestine.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100245","HPO_Synonym__c":"Desmoid tumors","HPO_Name__c":"Gastrointestinal desmoid tumor","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:137605","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"The presence of a nephroblastoma, which is a neoplasm of the kidney that primarily affects children.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002667","HPO_Synonym__c":"Wilms tumor","HPO_Name__c":"Nephroblastoma","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:137605","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"An abnormally increased muscular tone that causes fixed abnormal postures. There is a slow, intermittent twisting motion that leads to exaggerated turning and posture of the extremities and trunk.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001332","HPO_Synonym__c":"Dystonic movements","HPO_Name__c":"Dystonia","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:137605","HPO_Frequency__c":"Occasional (5-29%)","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"}},{"Provided_By__c":"ORPHA:137605","HPO_Frequency__c":"Uncommon (<1-4%)","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:137605","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An anomaly of the sternum, also known as the breastbone.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000766","HPO_Synonym__c":"Abnormality of the sternum; Pectus carinatum or pectus excavatum; Pectus deformities; Pectus deformity; Pectus excavatum or carinatum; Pectus excavatum or pectus carinatum; Pectus excavatum/carinatum; Sternal anomalies","HPO_Name__c":"Abnormal sternum morphology","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:137605","HPO_Frequency__c":"Excluded (0%)","Feature__r":{"HPO_Description__c":"The presence of pigmented, oval and dome-shaped raised hamartomatous nevi of the iris..","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0009737","HPO_Synonym__c":"Iris hamartomas","HPO_Name__c":"Lisch nodules","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:137605","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The presence of multiple lipomas (a type of benign tissue made of fatty tissue).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001012","HPO_Synonym__c":"Lipomata; Multiple fatty lumps","HPO_Name__c":"Multiple lipomas","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:137605","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"An abnormal narrowing of the urethral opening (meatus) of the penis.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0032077","HPO_Synonym__c":"Meatal stenosis; Meatus stenosis","HPO_Name__c":"Male urethral meatus stenosis","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:137605","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"The presence of calculi (stones) in the kidneys.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000787","HPO_Synonym__c":"Kidney stones; Renal calculi; Renal stones","HPO_Name__c":"Nephrolithiasis","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:137605","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"The presence of six or more cafe-au-lait spots.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007565","HPO_Name__c":"Multiple cafe-au-lait spots","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Neurology","Dermatology"],"Specialist":["Genetics","Neurology","Dermatology","Neurodevelopmental disabilities","Pediatrics"],"Account":["Dermatology"]},"synonyms":["neurofibromatosis 1-like syndrome"," neurofibromatosis type 1-like syndrome"," nf1-like syndrome"," nfls - neurofibromatosis type 1-like syndrome"]}