{"Name":"Hypogonadism with anosmia","DiseaseID__c":"GARD:0010771","id":10771,"encodedName":"hypogonadism-with-anosmia","IsDeleted":false,"Disease_Name_Full__c":"Hypogonadism with anosmia","Xref_IDs__c":"93559003; C0162809; C75479; D017436; DOID:3614; MEDGEN:102469; MONDO:0018800; ORPHA:478","USA_Estimate__c":"50,000","No_of_Specialist_Tagsa__c":5,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":2,"World_Estimate__c":"80,000 to 800,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":2,"No_of_Disease_Descriptions__c":3,"Disease_Characteristics_Score__c":7,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0018800","Disease_Description__c":"Kallmann syndrome (KS) is a developmental genetic disorder characterized by the association of congenital hypogonadotropic hypogonadism (CHH) due to gonadotropin-releasing hormone (GnRH) deficiency, and anosmia or hyposmia (with hypoplasia or aplasia of the olfactory bulbs).","GARD_Name__c":"Hypogonadism with anosmia","GARD_Synonym__c":"anosmia eunuchoidism; anosmic hypogonadism; anosmic idiopathic hypogonadotropic hypogonadism; congenital hypogonadotropic hypogonadism with anosmia; dysplasia olfactogenitalis of de morsier; dysplasia olfactogenitalis of de morsier (formerly); familial hypogonadism with anosmia; gonadotrophin deficiency with anosmia; hypogonadotropic hypogonadism with anosmia; hypogonadotropic hypogonadism-anosmia syndrome; kallman syndrome; kallman's syndrome; kallmann syndrome; kallmann's syndrome; ks; olfacto-genital pathological sequence; olfactogenital dysplasia","Curated_Disease_Description_Source__c":"GARD:0010771","Curated_Disease_Description__c":"Kallmann syndrome (KS) is a condition that causes hypogonadotropic hypogonadism (HH) and an impaired sense of smell. HH affects the production of the hormones needed for sexual development. It is present from birth and is due to deficiency of gonadotropin-releasing hormone (GnRH). KS is often diagnosed at puberty due to lack of sexual development. It may first be suspected in infancy in males with undescended testicles or a small penis. Symptoms in untreated, adult males may include decreased bone density and muscle mass; small testicles; erectile dysfunction; low sex drive; and infertility. Untreated adult females with KS usually do not have menstrual periods (amenorrhea) and normal, little, or no breast development. Most cases of KS are sporadic (not inherited) but some cases are inherited. The mode of inheritance depends on the gene involved.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"50,000","Age_at_Onset_Snippet_Text__c":"as a Child and as a Teenager","SourceID__c":"ORPHA:478","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0018800","ORPHANET_ID__c":"ORPHA:478","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de kallmann","Spanish_Description_Source__c":"ORPHA:478","Spanish_Description__c":"El síndrome de Kallmann (KS) es una enfermedad genética del desarrollo que se caracteriza por la asociación de un hipogonadismo hipogonadotrófico (CHH) congénito por déficit de hormona liberadora de gonadotropina (GnRH) y anosmia o hiposmia (con hipoplasia o aplasia de los bulbos olfativos).","Spanish_Disease_Name__c":"síndrome de kallmann","Spanish_GARD_Synonym__c":"hipogonadismo hipogonadotrópico congénito con anosmia; secuencia patológica olfato-genital","Category_Linearization__c":"ORPHA:97978","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":"Kallmann syndrome (KS) is a condition that causes hypogonadotropic hypogonadism (HH) and an impaired sense of smell. HH affects the production of the hormones needed for sexual development. It is present from birth and is due to deficiency of gonadotropin-releasing hormone (GnRH). KS is often diagnosed at puberty due to lack of sexual development. It may first be suspected in infancy in males with undescended testicles or a small penis. Symptoms in untreated, adult males may include decreased bone density and muscle mass; small testicles; erectile dysfunction; low sex drive; and infertility. Untreated adult females with KS usually do not have menstrual periods (amenorrhea) and normal, little, or no breast development. Most cases of KS are sporadic (not inherited) but some cases are inherited. The mode of inheritance depends on the gene involved.","Curated_Disease_Description_Source__c":"GARD:0010771","GARD_Synonym__c":"anosmia eunuchoidism; anosmic hypogonadism; anosmic idiopathic hypogonadotropic hypogonadism; congenital hypogonadotropic hypogonadism with anosmia; dysplasia olfactogenitalis of de morsier; dysplasia olfactogenitalis of de morsier (formerly); familial hypogonadism with anosmia; gonadotrophin deficiency with anosmia; hypogonadotropic hypogonadism with anosmia; hypogonadotropic hypogonadism-anosmia syndrome; kallman syndrome; kallman's syndrome; kallmann syndrome; kallmann's syndrome; ks; olfacto-genital pathological sequence; olfactogenital dysplasia","Name":"Hypogonadism with anosmia","Curated_USA_Estimate__c":"50,000","estimateUsa":"50,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"The Pituitary Foundation","Website__c":"https://www.pituitary.org.uk/"},{"Account_Name__c":"GNRH Network","Website__c":"https://www.chuv.ch/en/hhn/hhn-home/"}],"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":"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":"Urogenital Disorders","Tag_Category__c":"Disease Category","category_description":"Urinary and reproductive diseases affect the kidneys, ureters, bladder, urethra, or the reproductive organs.","curated_tag_name":"Urinary and reproductive diseases"},{"Tag_Name__c":"Obstetrics / Gynecology","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Urologist","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Infertility","Tag_Category__c":"Account","curated_tag_name":"Infertility"},{"Tag_Name__c":"Pituitary deficiency","Tag_Category__c":"Account","curated_tag_name":"Pituitary deficiencies"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Childhood","Provided_By__c":"ORPHA:478"},{"Age_At_Onset__c":"Adolescent","Provided_By__c":"ORPHA:478"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C0162809"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0010771","Source__c":"RareSource"},{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK1334","Source__c":"Gene Review","Xref__c":"NBK1334"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C017436","Source__c":"C0162809; MONDO:0018800","Xref__c":"D017436"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=102469","Source__c":"C0162809","Xref__c":"MEDGEN:102469"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0162809","Source__c":"C0162809","Xref__c":"C0162809"},{"URL__c":"https://www.orpha.net/en/disease/detail/478","Source__c":"C0162809; MONDO:0018800; ORPHA:478","Xref__c":"ORPHA:478"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=93559003","Source__c":"C0162809; MONDO:0018800","Xref__c":"93559003"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A3614","Source__c":"MONDO:0018800","Xref__c":"DOID:3614"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C75479","Source__c":"C0162809; MONDO:0018800","Xref__c":"C75479"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0018800","Source__c":"GARD:0010771","Xref__c":"MONDO:0018800"},{"URL__c":"https://medlineplus.gov/genetics/condition/kallmann-syndrome"},{"URL__c":"https://medlineplus.gov/genetics/condition/kallmann-syndrome","Source__c":"GARD:0010771","Xref__c":"https://medlineplus.gov/genetics/condition/kallmann-syndrome"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"CHD7","GHR_URL__c":"https://medlineplus.gov/genetics/gene/chd7","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"ANOS1","GHR_URL__c":"https://medlineplus.gov/genetics/gene/anos1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"FEZF1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"DCC","GHR_URL__c":"https://medlineplus.gov/genetics/gene/dcc","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"FLRT3","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"HESX1","GHR_URL__c":"https://medlineplus.gov/genetics/gene/hesx1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"FGFR1","GHR_URL__c":"https://medlineplus.gov/genetics/gene/fgfr1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"SOX10","GHR_URL__c":"https://medlineplus.gov/genetics/gene/sox10","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"WDR11","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"IL17RD","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"SEMA3A","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"TACR3","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"CCDC141","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"FGF8","GHR_URL__c":"https://medlineplus.gov/genetics/gene/fgf8","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"SPRY4","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"PROK2","GHR_URL__c":"https://medlineplus.gov/genetics/gene/prok2","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"NDNF","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"HS6ST1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"DUSP6","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"PROKR2","GHR_URL__c":"https://medlineplus.gov/genetics/gene/prokr2","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"FGF17","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["X-linked recessive","Autosomal dominant","Autosomal recessive","Non-Mendelian inheritance"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:478","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:478","HPO_Frequency__c":"Very frequent (80-99%)","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:478","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Abnormal development of large mammary glands in males resulting in breast enlargement.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000771","HPO_Synonym__c":"Enlarged male breast; Gynaecomastia","HPO_Name__c":"Gynecomastia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:478","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormality of the female internal genitalia.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000008","HPO_Synonym__c":"Abnormality of female internal genitalia","HPO_Name__c":"Abnormal morphology of female internal genitalia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:478","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A condition of reduced function of the anterior pituitary gland characterized by decreased secretion of one or more of the pituitary hormones growth hormone, thyroid-stimulating hormone, adrenocorticotropic hormone, prolactin, luteinizing hormone, and follicle-stimulating hormone.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000830","HPO_Name__c":"Anterior hypopituitarism","Feature_System__c":"Nervous System; Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:478","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A multidimensional but common male sexual dysfunction that involves an alteration in any of the components of the erectile response, including organic, relational and psychological.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100639","HPO_Synonym__c":"Abnormal erection; Erectile abnormalities","HPO_Name__c":"Erectile dysfunction","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:478","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:478","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001608","HPO_Synonym__c":"Abnormality of the voice; Voice abnormality","HPO_Name__c":"Abnormality of the voice","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:478","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:478","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Hypogonadotropic hypogonadism is characterized by reduced function of the gonads (testes in males or ovaries in females) and results from the absence of the gonadal stimulating pituitary hormones: follicle stimulating hormone (FSH) and luteinizing hormone (LH).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000044","HPO_Synonym__c":"Hypogonadotrophic hypogonadism; Low gonadotropins (secondary hypogonadism)","HPO_Name__c":"Hypogonadotropic hypogonadism","Feature_System__c":"Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:478","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:478","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Reduced volume of the testicle (the male gonad).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008734","HPO_Synonym__c":"Decreased testicular size; Decreased testicular volume; Hypoplastic testes; Reduced testicular volume; Small testes; Small testis; Testicular hypoplasia","HPO_Name__c":"Decreased testicular size","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:478","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A decreased sensitivity to odorants (that is, a decreased ability to perceive odors).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004409","HPO_Synonym__c":"Decreased smell sensation; Sense of smell impaired","HPO_Name__c":"Hyposmia","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:478","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:478","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Underdevelopment of the breast.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003187","HPO_Synonym__c":"Underdeveloped breasts","HPO_Name__c":"Breast hypoplasia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:478","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Ataxia refers to impaired coordination of voluntary muscle movement. Cerebellar ataxia refers to ataxia due to dysfunction of the cerebellum. This causes a variety of elementary neurological deficits including asynergy (lack of coordination between muscles, limbs and joints), dysmetria (lack of ability to judge distances that can lead to under- or overshoot in grasping movements), and dysdiadochokinesia (inability to perform rapid movements requiring antagonizing muscle groups to be switched on and off repeatedly).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001251","HPO_Synonym__c":"Cerebellar ataxia","HPO_Name__c":"Ataxia","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:478","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Involuntary movements of one hand that accompany and mirror intentional movements of the opposite hand.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001335","HPO_Synonym__c":"Hand mirror movements; Mirror hand movements; Mirror movements","HPO_Name__c":"Bimanual synkinesia","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:478","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000144","HPO_Synonym__c":"Abnormal fertility; Decreased fertility","HPO_Name__c":"Decreased fertility","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:478","HPO_Frequency__c":"Very frequent (80-99%)","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:478","HPO_Frequency__c":"Occasional (5-29%)","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:478","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Recurrent or persistent genital pain associated with sexual intercourse.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030016","HPO_Name__c":"Dyspareunia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:478","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Severe or complete weakness of both lower extremities with sparing of the upper extremities.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010550","HPO_Synonym__c":"Leg paralysis","HPO_Name__c":"Paraplegia","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:478","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Passing the age when puberty normally occurs with no physical or hormonal signs of the onset of puberty.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000823","HPO_Synonym__c":"Delayed pubertal development; Delayed pubertal growth; Delayed puberty; Pubertal delay","HPO_Name__c":"Delayed puberty","Feature_System__c":"Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:478","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An anomaly in the ability to discriminate between or recognize colors.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000551","HPO_Synonym__c":"Abnormal color vision; Abnormality of color vision; Disturbed color vision","HPO_Name__c":"Color vision defect","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:478","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The term gait disturbance can refer to any disruption of the ability to walk.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001288","HPO_Synonym__c":"Abnormal gait; Abnormal walk; Difficulty in walking; Gait abnormalities; Gait difficulties; Gait disturbances; Impaired gait; Walking disability","HPO_Name__c":"Gait disturbance","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:478","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000786","HPO_Name__c":"Primary amenorrhea","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:478","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Dysarthric speech is a general description referring to a neurological speech disorder characterized by poor articulation. Depending on the involved neurological structures, dysarthria may be further classified as spastic, flaccid, ataxic, hyperkinetic and hypokinetic, or mixed.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001260","HPO_Synonym__c":"Difficulty articulating speech; Dysarthric speech","HPO_Name__c":"Dysarthria","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:478","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormality of the skin characterized the presence of excessive amounts of dry surface scales on the skin resulting from an abnormality of keratinization.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008064","HPO_Synonym__c":"Ichthyosiform abnormality of the skin; Ichthyotic skin","HPO_Name__c":"Ichthyosis","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:478","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Agenesis, that is, failure of the kidney to develop during embryogenesis and development.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000104","HPO_Synonym__c":"Absent kidney; Missing kidney; Renal aplasia","HPO_Name__c":"Renal agenesis","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:478","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Gonadotropin-releasing hormone (GnRH) deficiency (IGD) is characterized by inappropriately low serum concentrations of the gonadotropins LH (luteinizing hormone) and FSH (follicle-stimulating hormone) in the presence of low circulating concentrations of sex steroids (primarily testosterone or estradiol). GnRH is not typically assayed directly because it is released in pulses from the hypothalamus, and its concentration can fluctuate rapidly and in a complex pattern that makes single blood measurements less informative than the pituitary's response.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003164","HPO_Synonym__c":"Hypothalamic GNRH deficiency; Hypothalamic gonadotropin-releasing hormone deficiency","HPO_Name__c":"Gonadotropin-releasing hormone deficiency","Feature_System__c":"Nervous System; Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:478","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A general term describing features characterized by abnormal development of bones and connective tissues.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002652","HPO_Name__c":"Skeletal dysplasia","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:478","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A decreased rate of skeletal maturation. Delayed skeletal maturation can be diagnosed on the basis of an estimation of the bone age from radiographs of specific bones in the human body.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002750","HPO_Synonym__c":"Delayed bone age; Delayed bone age before puberty; Delayed bone maturation; Delayed skeletal development; Retarded bone age; Skeletal maturation retardation","HPO_Name__c":"Delayed skeletal maturation","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:478","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A reduction of bone mineral density, that is, of the amount of matter per cubic centimeter of bones.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004349","HPO_Synonym__c":"Decreased bone mineral density; Decreased bone mineral density Z score; Low solidness and mass of the bones","HPO_Name__c":"Reduced bone mineral density","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:478","HPO_Frequency__c":"Occasional (5-29%)","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:478","HPO_Frequency__c":"Occasional (5-29%)","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:478","HPO_Frequency__c":"Occasional (5-29%)","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:478","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:478","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The absence of one or more teeth from the normal series by a failure to develop","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0009804","HPO_Synonym__c":"Decreased tooth count; Dental agenesis; Failure of development of some teeth; Reduced number of teeth; Teeth, agenesis","HPO_Name__c":"Tooth agenesis","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:478","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An increase in height of the medial longitudinal arch of the foot that does not flatten on weight bearing (i.e., a distinctly hollow form of the sole of the foot when it is bearing weight).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001761","HPO_Synonym__c":"Cavus foot; High-arched foot","HPO_Name__c":"Pes cavus","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:478","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The repeated occurrence of bone fractures (implying an abnormally increased tendency for fracture).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002757","HPO_Synonym__c":"Frequent fractures; Increased fracture rate; Increased fractures; Multiple fractures; Multiple spontaneous fractures; Recurrent fractures; Varying degree of multiple fractures","HPO_Name__c":"Recurrent fractures","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:478","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A foot where the longitudinal arch of the foot is in contact with the ground or floor when the individual is standing; or, in a patient lying supine, a foot where the arch is in contact with the surface of a flat board pressed against the sole of the foot by the examiner with a pressure similar to that expected from weight bearing; or, the height of the arch is reduced.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001763","HPO_Synonym__c":"Flat feet; Flat foot","HPO_Name__c":"Pes planus","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:478","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An unintentional, oscillating to-and-fro muscle movement about a joint axis.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001337","HPO_Synonym__c":"Tremor; Tremors","HPO_Name__c":"Tremor","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:478","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Reduced strength of muscles.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001324","HPO_Synonym__c":"Muscle weakness; Muscular weakness","HPO_Name__c":"Muscle weakness","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:478","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Abnormally small penis. At birth, the normal penis is about 3 cm (stretched length from pubic tubercle to tip of penis) with micropenis less than 2.0-2.5 cm.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000054","HPO_Synonym__c":"Short penis; Small penis","HPO_Name__c":"Micropenis","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Endocrine","Urogenital Disorders"],"Specialist":["Genetics","Endocrine","Obstetrics / Gynecology","Urologist","Pediatrics"],"Account":["Infertility","Pituitary deficiency"]},"synonyms":["anosmia eunuchoidism"," anosmic hypogonadism"," anosmic idiopathic hypogonadotropic hypogonadism"," congenital hypogonadotropic hypogonadism with anosmia"," dysplasia olfactogenitalis of de morsier"," dysplasia olfactogenitalis of de morsier (formerly)"," familial hypogonadism with anosmia"," gonadotrophin deficiency with anosmia"," hypogonadotropic hypogonadism with anosmia"," hypogonadotropic hypogonadism-anosmia syndrome"," kallman syndrome"," kallman's syndrome"," kallmann syndrome"," kallmann's syndrome"," ks"," olfacto-genital pathological sequence"," olfactogenital dysplasia"]}