{"Name":"Septo-optic dysplasia sequence","DiseaseID__c":"GARD:0007627","id":7627,"encodedName":"septo-optic-dysplasia-sequence","IsDeleted":false,"Disease_Name_Full__c":"Septo-optic dysplasia sequence","Xref_IDs__c":"7611002; C0338503; C85063; D025962; DOID:0060857; MEDGEN:90926; MONDO:0008428; OMIM:182230; ORPHA:3157","USA_Estimate__c":"200,000","No_of_Specialist_Tagsa__c":7,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":1,"World_Estimate__c":"800,000 to 5,000,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":1,"No_of_Disease_Descriptions__c":5,"Disease_Characteristics_Score__c":8,"No_of_Age_at_Onset__c":3,"Description_Source__c":"MONDO:0008428","Disease_Description__c":"A rare clinically heterogeneous disorder characterized by the classical triad of optic nerve hypoplasia, pituitary hormone abnormalities and midline brain defects.","GARD_Name__c":"Septo-optic dysplasia sequence","GARD_Synonym__c":"de morsier syndrome; hesx1-related combined pituitary hormone deficiency; septo optic dysplasia; septo-optic dysplasia; septo-optic dysplasia spectrum; septooptic dysplasia; sod","Curated_Disease_Description_Source__c":"GARD:0007627","Curated_Disease_Description__c":"Septo-optic dysplasia is a disorder that affects early brain development. This condition is typically defined as a combination of at least two of the following three features: underdevelopment (hypoplasia) of the nerves that carry visual information from the eye to the brain (optic nerves); abnormal development of the structures that separate the right and left halves (the midline) of the brain; and hypoplasia of the hormone-producing gland (pituitary gland) at the base of the brain. The signs and symptoms of septo-optic dysplasia can vary widely among affected individuals. Less than half of people with septo-optic dysplasia have all three of the main features.  In individuals with optic nerve hypoplasia, the optic nerves are often abnormally small and make fewer connections than usual between the eyes and the brain. As a result, affected individuals have impaired vision in one or both eyes. People with optic nerve hypoplasia can also have other eye abnormalities, including rapid, involuntary eye movements (nystagmus) and eyes that do not point in the same direction (strabismus). Abnormal development of the structures along the midline of the brain occurs in many people with septo-optic dysplasia. These structures include the corpus callosum, which is a band of tissue that connects the two halves of the brain, and the septum pellucidum, which separates the fluid-filled spaces in the brain. In affected individuals, these structures may form abnormally or fail to develop at all. Additional brain abnormalities, such as slits or clefts in one or both halves of the brain (schizencephaly), may also be present in people with septo-optic dysplasia. Depending on which structures are affected, abnormal brain development can lead to intellectual disabilities and other behavioral and neurological problems, including recurrent seizures (epilepsy); developmental delays; and autism spectrum disorder, which is characterized by impaired social skills and communication problems. Many people who have septo-optic dysplasia have an underdeveloped pituitary gland. Pituitary hypoplasia can lead to a shortage (deficiency) of essential hormones. These hormones help control growth, reproduction, and other critical body functions. In most cases, pituitary hypoplasia causes growth hormone (GH) deficiency, which results in slow growth and short stature. Less commonly, individuals who have septo-optic dysplasia have panhypopituitarism, a condition in which the production of multiple hormones is impaired. Panhypopituitarism can be associated with slow growth, low levels of glucose in the blood (hypoglycemia), genital abnormalities, and problems with sexual development. Because the signs and symptoms of septo-optic dysplasia can vary significantly, researchers have suggested that this condition may actually represent a spectrum of related conditions rather than a single disorder. Researchers have suggested various names for this spectrum, including 'septo-optic-pituitary dysplasia,'  'septo-optic pituitary dysplasia complex,' and 'hypothalamo-pituitary-optic dysplasia.' Researchers are working to better understand this condition.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"200,000","Age_at_Onset_Snippet_Text__c":"during Pregnancy, at Birth, and as an Infant","SourceID__c":"ORPHA:3157","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0008428","ORPHANET_ID__c":"ORPHA:3157","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Espectro de la displasia septo-óptica","Spanish_Description_Source__c":"ORPHA:3157","Spanish_Description__c":"La displasia septoóptica (DSO) es un trastorno clínicamente heterogéneo caracterizado por la triada clásica de hipoplasia del nervio óptico, anomalías de las hormonas hipofisarias y defectos de la línea media cerebral.","Spanish_Disease_Name__c":"espectro de la displasia septo-óptica","Spanish_GARD_Synonym__c":"displasia septo-óptica; sod; síndrome de de morsier","Category_Linearization__c":"ORPHA:93890","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":"Septo-optic dysplasia is a disorder that affects early brain development. This condition is typically defined as a combination of at least two of the following three features: underdevelopment (hypoplasia) of the nerves that carry visual information from the eye to the brain (optic nerves); abnormal development of the structures that separate the right and left halves (the midline) of the brain; and hypoplasia of the hormone-producing gland (pituitary gland) at the base of the brain. The signs and symptoms of septo-optic dysplasia can vary widely among affected individuals. Less than half of people with septo-optic dysplasia have all three of the main features.  In individuals with optic nerve hypoplasia, the optic nerves are often abnormally small and make fewer connections than usual between the eyes and the brain. As a result, affected individuals have impaired vision in one or both eyes. People with optic nerve hypoplasia can also have other eye abnormalities, including rapid, involuntary eye movements (nystagmus) and eyes that do not point in the same direction (strabismus). Abnormal development of the structures along the midline of the brain occurs in many people with septo-optic dysplasia. These structures include the corpus callosum, which is a band of tissue that connects the two halves of the brain, and the septum pellucidum, which separates the fluid-filled spaces in the brain. In affected individuals, these structures may form abnormally or fail to develop at all. Additional brain abnormalities, such as slits or clefts in one or both halves of the brain (schizencephaly), may also be present in people with septo-optic dysplasia. Depending on which structures are affected, abnormal brain development can lead to intellectual disabilities and other behavioral and neurological problems, including recurrent seizures (epilepsy); developmental delays; and autism spectrum disorder, which is characterized by impaired social skills and communication problems. Many people who have septo-optic dysplasia have an underdeveloped pituitary gland. Pituitary hypoplasia can lead to a shortage (deficiency) of essential hormones. These hormones help control growth, reproduction, and other critical body functions. In most cases, pituitary hypoplasia causes growth hormone (GH) deficiency, which results in slow growth and short stature. Less commonly, individuals who have septo-optic dysplasia have panhypopituitarism, a condition in which the production of multiple hormones is impaired. Panhypopituitarism can be associated with slow growth, low levels of glucose in the blood (hypoglycemia), genital abnormalities, and problems with sexual development. Because the signs and symptoms of septo-optic dysplasia can vary significantly, researchers have suggested that this condition may actually represent a spectrum of related conditions rather than a single disorder. Researchers have suggested various names for this spectrum, including 'septo-optic-pituitary dysplasia,'  'septo-optic pituitary dysplasia complex,' and 'hypothalamo-pituitary-optic dysplasia.' Researchers are working to better understand this condition.","Curated_Disease_Description_Source__c":"GARD:0007627","GARD_Synonym__c":"de morsier syndrome; hesx1-related combined pituitary hormone deficiency; septo optic dysplasia; septo-optic dysplasia; septo-optic dysplasia spectrum; septooptic dysplasia; sod","Name":"Septo-optic dysplasia sequence","Curated_USA_Estimate__c":"200,000","estimateUsa":"200,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Alianza Iberoamericana de Enfermedades Raras o Poco Frecuentes","Website__c":"https://aliber.org/web/"},{"Account_Name__c":"Federación Mexicana de Enfermedades Raras (FEMEXER)","Website__c":"http://www.femexer.org/"},{"Account_Name__c":"Federación Española de Enfermedades Raras","Website__c":"https://enfermedades-raras.org/"},{"Account_Name__c":"Federación Colombiana de Enfermedades Raras","Website__c":"http://www.fecoer.org"},{"Account_Name__c":"Federación Argentina de Enfermedades Poco Frecuentes","Website__c":"https://fadepof.org.ar/"},{"Account_Name__c":"Asociación Todos Unidos Enfermedades Raras Uruguay","Website__c":"https://atueru.org.uy/"},{"Account_Name__c":"The MAGIC Foundation","Website__c":"https://www.magicfoundation.org/"},{"Account_Name__c":"Human Growth Foundation","Website__c":"https://www.hgfound.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":"Ophthalmology","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Endocrine","Tag_Category__c":"Disease Category;Specialist","category_description":"Endocrine diseases affect hormone production or how the body responds to a specific hormone(s).","curated_tag_name":"Endocrine diseases"},{"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":"Pituitary deficiency","Tag_Category__c":"Account","curated_tag_name":"Pituitary deficiencies"},{"Tag_Name__c":"Neuro-Ophthalmology","Tag_Category__c":"Specialist","curated_tag_name":"Neuro-ophthalmic 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":"Neonatal","Provided_By__c":"ORPHA:3157"},{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:3157"},{"Age_At_Onset__c":"Antenatal","Provided_By__c":"ORPHA:3157"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C0338503"},{"Type__c":"GTR","Curie__c":"MEDGEN:C4014708"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0007627","Source__c":"RareSource"},{"URL__c":"https://www.orpha.net/en/disease/detail/3157","Source__c":"C0338503; MONDO:0008428; ORPHA:3157","Xref__c":"ORPHA:3157"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=7611002","Source__c":"C0338503; MONDO:0008428","Xref__c":"7611002"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C85063","Source__c":"C0338503; MONDO:0008428","Xref__c":"C85063"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=90926","Source__c":"C0338503","Xref__c":"MEDGEN:90926"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0060857","Source__c":"MONDO:0008428","Xref__c":"DOID:0060857"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C025962","Source__c":"C0338503; MONDO:0008428","Xref__c":"D025962"},{"URL__c":"https://www.omim.org/entry/182230","Source__c":"C0338503; MONDO:0008428; ORPHA:3157","Xref__c":"OMIM:182230"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0338503","Source__c":"C0338503","Xref__c":"C0338503"},{"URL__c":"https://medlineplus.gov/genetics/condition/septo-optic-dysplasia","Source__c":"GARD:0007627","Xref__c":"https://medlineplus.gov/genetics/condition/septo-optic-dysplasia"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0008428","Source__c":"GARD:0007627","Xref__c":"MONDO:0008428"},{"URL__c":"https://hpo.jax.org/browse/term/HP:0100842","Source__c":"C0338503","Xref__c":"HP:0100842"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"HESX1","GHR_URL__c":"https://medlineplus.gov/genetics/gene/hesx1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive","Autosomal dominant","Non-Mendelian inheritance"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:3157","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An inability to perceive odors. This is a general term describing inability to smell arising in any part of the process of smelling from absorption of odorants into the nasal mucous overlying the olfactory epithelium, diffusion to the cilia, binding to olfactory receptor sites, generation of action potentials in olfactory neurons, and perception of a smell.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000458","HPO_Synonym__c":"Loss of smell; Lost smell","HPO_Name__c":"Anosmia","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3157","HPO_Frequency__c":"Frequent (30-79%)","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:3157","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Testis in inguinal canal. That is, 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 scrotum.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000028","HPO_Synonym__c":"Cryptorchism; Undescended testes; Undescended testis","HPO_Name__c":"Cryptorchidism","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3157","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The term intellectual disability or intellectual developmental disorder is used to describe significantly sub-average intellectual and adaptive functioning based on clinical assessment and as measured by individually administered, appropriately normed, standardized and validated tests of intellectual functioning and adaptive behavior, with onset during the developmental period from infancy through adolescence.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001249","HPO_Synonym__c":"Intellectual disability; Mental deficiency; Mental retardation; Mental retardation, nonspecific; Mental-retardation; Nonprogressive intellectual disability; Nonprogressive mental retardation","HPO_Name__c":"Intellectual disability","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3157","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008736","HPO_Synonym__c":"Underdeveloped penis","HPO_Name__c":"Hypoplasia of penis","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3157","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormal pattern in the quality, quantity, or characteristics of sleep.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002360","HPO_Synonym__c":"Difficulty sleeping; Sleep abnormality; Sleep disturbances; Sleep dysfunction; Sleep-wake disturbance; Trouble sleeping","HPO_Name__c":"Sleep disturbance","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3157","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A misalignment of the eyes so that the visual axes deviate from bifoveal fixation. The classification of strabismus may be based on a number of features including the relative position of the eyes, whether the deviation is latent or manifest, intermittent or constant, concomitant or otherwise and according to the age of onset and the relevance of any associated refractive error.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000486","HPO_Synonym__c":"Cross-eyed; Squint; Squint eyes","HPO_Name__c":"Strabismus","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3157","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Underdevelopment of the optic nerve and absence of the septum pellucidum.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100842","HPO_Synonym__c":"De Morsier syndrome","HPO_Name__c":"Septo-optic dysplasia","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3157","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A state of excessive water intake and hypotonic (dilute) polyuria. Diabetes insipidus may be due to failure of vasopressin (AVP) release (central or neurogenic diabetes insipidus) or to a failure of the kidney to respond to AVP (nephrogenic diabetes insipidus).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000873","HPO_Name__c":"Diabetes insipidus","Feature_System__c":"Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3157","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Cleft palate is a developmental defect of the palate resulting from a failure of fusion of the palatine processes and manifesting as a separation of the roof of the mouth (soft and hard palate).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000175","HPO_Synonym__c":"Cleft hard and soft palate; Cleft of hard and soft palate; Cleft of palate; Cleft palate; Cleft roof of mouth; Palatoschisis; Uranostaphyloschisis","HPO_Name__c":"Cleft palate","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3157","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"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_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001274","HPO_Synonym__c":"Absence of corpus callosum; Absent corpus callosum; Agenesis of the corpus callosum; Callosal agenesis; Corpus callosum agenesis; Dysplastic or absent corpus callosum","HPO_Name__c":"Agenesis of corpus callosum","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3157","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Absence of the septum pellucidum (meaning translucent wall in Latin - SP), also known as the ventricle of Sylvius. The septum pellucidum is a thin, triangular double membrane separating the frontal horns of the right and left lateral ventricles of the brain. It extends between the anterior portion of the corpus callosum, and the body of the fornix and its width varies from 1.5 to 3.0 mm.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001331","HPO_Synonym__c":"Absence of septum pellucidum; Absence of the septum pellucidum; Agenesis of the septum pellucidum; Missing septum pellucidum","HPO_Name__c":"Absent septum pellucidum","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3157","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Underdevelopment of the optic nerve.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000609","HPO_Synonym__c":"Hypoplastic optic nerves; Underdeveloped optic nerves","HPO_Name__c":"Optic nerve hypoplasia","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3157","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormal connection (fistula) between the esophagus and the trachea.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002575","HPO_Name__c":"Tracheoesophageal fistula","Feature_System__c":"Respiratory system; Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3157","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001263","HPO_Synonym__c":"Delayed cognitive development; Delayed development; Delayed developmental milestones; Delayed intellectual development; Delayed milestones; Delayed psychomotor development; Developmental delay; Developmental delay in early childhood; Developmental delay, global; Developmental retardation; GDD; Lack of psychomotor development; Motor and developmental delay; Motormental retardation; Psychomotor delay; Psychomotor development deficiency; Psychomotor development failure; Psychomotor developmental delay; Retarded development; Retarded mental development; Retarded psychomotor development","HPO_Name__c":"Global developmental delay","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3157","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Abnormally diminished capacity to sweat.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000966","HPO_Synonym__c":"Decreased ability to sweat; Decreased sweating; Impaired sweating; Inadequate sweating; Oligohidrosis; Sweating, decreased","HPO_Name__c":"Hypohidrosis","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3157","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Autism is a neurodevelopmental disorder characterized by impaired social interaction and communication, and by restricted and repetitive behavior. Autism begins in childhood. It is marked by the presence of markedly abnormal or impaired development in social interaction and communication and a markedly restricted repertoire of activity and interest. Manifestations of the disorder vary greatly depending on the developmental level and chronological age of the individual (DSM-IV).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000717","HPO_Synonym__c":"Autism","HPO_Name__c":"Autism","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3157","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Any structural anomaly of the heart and blood vessels.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030680","HPO_Synonym__c":"Abnormality of cardiovascular system morphology; Cardiovascular malformations","HPO_Name__c":"Abnormal cardiovascular system morphology","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3157","HPO_Frequency__c":"Frequent (30-79%)","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:3157","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Underdevelopment of the anterior pituitary gland.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010627","HPO_Synonym__c":"Small anterior pituitary lobe; Underdeveloped pituitary gland","HPO_Name__c":"Anterior pituitary hypoplasia","Feature_System__c":"Nervous System; Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3157","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Abnormality of the pituitary gland (also known as hypophysis), which is an endocrine gland that protrudes from the bottom of the hypothalamus at the base of the brain. The pituitary gland secretes the hormones ACTH, TSH, PRL, GH, endorphins, FSH, LH, oxytocin, and antidiuretic hormone. The secretion of hormones from the anterior pituitary is under the strict control of hypothalamic hormones, and the posterior pituitary is essentially an extension of the hypothalamus, so that hypothalamus and pituitary gland may be regarded as a functional unit.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000864","HPO_Name__c":"Abnormality of the hypothalamus-pituitary axis","Feature_System__c":"Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3157","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Skin characterized by the lack of natural or normal moisture.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000958","HPO_Synonym__c":"Dry skin; Xerosis","HPO_Name__c":"Dry skin","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3157","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Accumulation of substantial excess body fat.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001513","HPO_Synonym__c":"Having too much body fat; Obesity","HPO_Name__c":"Obesity","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3157","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Loss of strength in the arm, leg, and sometimes face on one side of the body. Hemiplegia refers to a severe or complete loss of strength, whereas hemiparesis refers to a relatively mild loss of strength.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004374","HPO_Synonym__c":"Paralysis or weakness of one side of body","HPO_Name__c":"Hemiplegia/hemiparesis","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3157","HPO_Frequency__c":"Frequent (30-79%)","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:3157","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007360","HPO_Synonym__c":"Absent/small cerebellum; Absent/underdeveloped cerebellum; Atrophy/Degeneration affecting the cerebellum; Atrophy/Hypoplasia of the cerebellum; Cerebellar hypoplasia/atrophy","HPO_Name__c":"Aplasia/Hypoplasia of the cerebellum","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3157","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Excessive thirst manifested by excessive fluid intake.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001959","HPO_Synonym__c":"Extreme thirst","HPO_Name__c":"Polydipsia","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3157","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A subjective feeling of tiredness characterized by a lack of energy and motivation.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012378","HPO_Synonym__c":"Fatigue; Tired; Tiredness","HPO_Name__c":"Fatigue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3157","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A type of hearing impairment in one or both ears related to an abnormal functionality of the cochlear nerve.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000407","HPO_Synonym__c":"Hearing loss, sensorineural; Sensorineural deafness; Sensorineural hearing loss","HPO_Name__c":"Sensorineural hearing impairment","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3157","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Visual impairment (or vision impairment) is vision loss (of a person) to such a degree as to qualify as an additional support need through a significant limitation of visual capability resulting from either disease, trauma, or congenital or degenerative conditions that cannot be corrected by conventional means, such as refractive correction, medication, or surgery.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000505","HPO_Synonym__c":"Impaired vision; Loss of eyesight; Poor vision; Visual impairment","HPO_Name__c":"Visual impairment","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3157","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A developmental defect resulting in complete obliteration of the lumen of the esophagus such that the esophagus ends in a blind pouch rather than connecting to the stomach.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002032","HPO_Synonym__c":"Birth defect in which part of esophagus did not develop","HPO_Name__c":"Esophageal atresia","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3157","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Infrequent or difficult evacuation of feces.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002019","HPO_Synonym__c":"Constipation; Costiveness; Dyschezia","HPO_Name__c":"Constipation","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Neurology","Endocrine","Congenital Abnormality"],"Specialist":["Genetics","Neurology","Ophthalmology","Endocrine","Neuro-Ophthalmology","Neurodevelopmental disabilities","Pediatrics"],"Account":["Pituitary deficiency"]},"synonyms":["de morsier syndrome"," hesx1-related combined pituitary hormone deficiency"," septo optic dysplasia"," septo-optic dysplasia"," septo-optic dysplasia spectrum"," septooptic dysplasia"," sod"],"spanishId":13586,"spanishName":"espectro-de-la-displasia-septo-optica"}