eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| kallmann syndrome | ||||
| Disease ID | 75 |
|---|---|
| Disease | kallmann syndrome |
| Definition | A genetically heterogeneous disorder caused by hypothalamic GNRH deficiency and OLFACTORY NERVE defects. It is characterized by congenital HYPOGONADOTROPIC HYPOGONADISM and ANOSMIA, possibly with additional midline defects. It can be transmitted as an X-linked (GENETIC DISEASES, X-LINKED), an autosomal dominant, or an autosomal recessive trait. |
| Synonym | anosmia eunuchoidism anosmic hypogonadism anosmic hypogonadisms anosmic idiopathic hypogonadotropic hypogonadism de morsier syndrome dysplasia olfactogenitalis of de morsier familial hypogonadism with anosmia gonadotrophin deficiency with anosmia hha hypogonadism with anosmia hypogonadism with anosmia (disorder) hypogonadism, anosmic hypogonadism, hypogonadotropic, with anosmia hypogonadisms, anosmic hypogonadotropic hypogonadism and anosmia hypogonadotropic hypogonadism with anosmia hypogonadotropic hypogonadism-anosmia syndrome kallman syndrome kallman's syndrome kallmann syndrome [disease/finding] kallmann's syndrome kallmanns syndrome kallmans syndrome olfactogenital dysplasia syndrome, kallmann syndrome, kallmann's |
| Orphanet | |
| OMIM | |
| DOID | |
| UMLS | C0162809 |
| MeSH | |
| SNOMED-CT | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:10) C0020619 | hypogonadism | 4 C0022735 | hypogonadotropic hypogonadism | 4 C0034012 | delayed puberty | 2 C0026769 | multiple sclerosis | 1 C0158646 | cleft lip/palate | 1 C0271623 | gonadotropin deficiency | 1 C0948740 | pituitary hypoplasia | 1 C1535927 | charge syndrome | 1 C0008924 | cleft lip | 1 C0158699 | renal agenesis | 1 |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:20) 2260 | FGFR1 | CTD_human;GHR;ORPHANET;UNIPROT;UniProtKB-KW 128674 | PROKR2 | CTD_human;GHR;ORPHANET;UNIPROT;UniProtKB-KW 60675 | PROK2 | CTD_human;GHR;ORPHANET;UNIPROT;UniProtKB-KW 2253 | FGF8 | CTD_human;ORPHANET;UNIPROT;UniProtKB-KW 8822 | FGF17 | ORPHANET;UniProtKB-KW 6663 | SOX10 | ORPHANET;UniProtKB-KW 389549 | FEZF1 | ORPHANET;UniProtKB-KW 81848 | SPRY4 | ORPHANET;UniProtKB-KW 55717 | WDR11 | ORPHANET;UniProtKB-KW 6870 | TACR3 | ORPHANET 8820 | HESX1 | ORPHANET 2796 | GNRH1 | UniProtKB-KW 54756 | IL17RD | ORPHANET;UniProtKB-KW 1848 | DUSP6 | ORPHANET;UniProtKB-KW 84634 | KISS1R | ORPHANET 55636 | CHD7 | CTD_human;ORPHANET;UniProtKB-KW 9394 | HS6ST1 | ORPHANET;UniProtKB-KW 10371 | SEMA3A | ORPHANET;UniProtKB-KW 23767 | FLRT3 | ORPHANET;UniProtKB-KW 26012 | NSMF | ORPHANET |
| Inferring Gene | Entrez_id | Symbol | Resource(Total Genes:6) |
| Text Mined Gene | Entrez_id | Symbol | Score | Resource(Total Genes:62) 11217 | AKAP2 | 3.426 | DISEASES 265 | AMELX | 1.775 | DISEASES 415 | ARSE | 3.425 | DISEASES 653 | BMP5 | 1.596 | DISEASES 285025 | CCDC141 | 3.991 | DISEASES 64072 | CDH23 | 1.21 | DISEASES 55636 | CHD7 | 5.652 | DISEASES 7401 | CLRN1 | 1.997 | DISEASES 1297 | COL9A1 | 1.692 | DISEASES 1438 | CSF2RA | 1.252 | DISEASES 64641 | EBF2 | 2.033 | DISEASES 2018 | EMX2 | 1.777 | DISEASES 80712 | ESX1 | 3.842 | DISEASES 389549 | FEZF1 | 2.973 | DISEASES 2258 | FGF13 | 2.546 | DISEASES 8822 | FGF17 | 3.739 | DISEASES 2253 | FGF8 | 5.964 | DISEASES 2260 | FGFR1 | 6.32 | DISEASES 23767 | FLRT3 | 3.897 | DISEASES 8928 | FOXH1 | 1.649 | DISEASES 2492 | FSHR | 1.853 | DISEASES 2737 | GLI3 | 1.192 | DISEASES 4935 | GPR143 | 1.64 | DISEASES 3293 | HSD17B3 | 1.574 | DISEASES 3295 | HSD17B4 | 1.324 | DISEASES 3640 | INSL3 | 2.052 | DISEASES 3749 | KCNC4 | 2.181 | DISEASES 3814 | KISS1 | 4.212 | DISEASES 3953 | LEPR | 1.71 | DISEASES 8022 | LHX3 | 3.286 | DISEASES 389421 | LIN28B | 2.009 | DISEASES 84930 | MASTL | 2.004 | DISEASES 4692 | NDN | 1.075 | DISEASES 4693 | NDP | 1.432 | DISEASES 190 | NR0B1 | 3.665 | DISEASES 2516 | NR5A1 | 2.069 | DISEASES 54780 | NSMCE4A | 3.72 | DISEASES 114299 | PALM2 | 2.808 | DISEASES 65217 | PCDH15 | 1.312 | DISEASES 5139 | PDE3A | 1.612 | DISEASES 54477 | PLEKHA5 | 3.246 | DISEASES 5361 | PLXNA1 | 1.805 | DISEASES 8228 | PNPLA4 | 3.775 | DISEASES 343035 | RD3 | 1.444 | DISEASES 6023 | RMRP | 2.366 | DISEASES 64221 | ROBO3 | 2.622 | DISEASES 57556 | SEMA6A | 1.578 | DISEASES 6473 | SHOX | 2.365 | DISEASES 23557 | SNAPIN | 1.989 | DISEASES 6663 | SOX10 | 3.491 | DISEASES 10253 | SPRY2 | 1.343 | DISEASES 81848 | SPRY4 | 3.067 | DISEASES 7050 | TGIF1 | 2.054 | DISEASES 83696 | TRAPPC9 | 1.824 | DISEASES 10194 | TSHZ1 | 1.522 | DISEASES 10381 | TUBB3 | 1.641 | DISEASES 89766 | UMODL1 | 2.765 | DISEASES 26609 | VCX | 4.101 | DISEASES 51480 | VCX2 | 4.058 | DISEASES 51481 | VCX3A | 4.345 | DISEASES 425054 | VCX3B | 4.015 | DISEASES 7499 | XG | 2.87 | DISEASES |
| Locus | Symbol | Locus(Total Locus:20) |
| Disease ID | 75 |
|---|---|
| Disease | kallmann syndrome |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:44) HP:0000044 | Hypogonadotrophic hypogonadism HP:0000028 | Cryptorchidism HP:0000639 | Nystagmus HP:0000786 | Primary amenorrhea HP:0100639 | Erectile abnormalities HP:0004409 | Hyposmia HP:0008734 | Decreased testicular size HP:0000508 | Ptosis HP:0001260 | Dysarthria HP:0008736 | Hypoplasia of penis HP:0010550 | Paraplegia HP:0001251 | Ataxia HP:0002652 | Skeletal dysplasia HP:0002564 | Malformation of the heart and great vessels HP:0000104 | Renal agenesis HP:0009804 | Reduced number of teeth HP:0000407 | Sensorineural hearing impairment HP:0000008 | Abnormality of female internal genitalia HP:0001250 | Seizures HP:0000175 | Cleft palate HP:0000771 | Gynecomastia HP:0001288 | Gait disturbance HP:0003187 | Breast hypoplasia HP:0001608 | Abnormality of the voice HP:0000458 | Anosmia HP:0000551 | Abnormality of color vision HP:0002757 | Recurrent fractures HP:0030016 | Dyspareunia HP:0000823 | Delayed puberty HP:0000830 | Anterior hypopituitarism HP:0001761 | Pes cavus HP:0001513 | Obesity HP:0000505 | Visual impairment HP:0003164 | Hypothalamic gonadotropin-releasing hormone (GNRH) deficiency HP:0001324 | Muscle weakness HP:0001337 | Tremor HP:0002750 | Delayed skeletal maturation HP:0001763 | Pes planus HP:0001252 | Muscular hypotonia HP:0000054 | Micropenis HP:0004349 | Reduced bone mineral density HP:0000144 | Decreased fertility HP:0001335 | Bimanual synkinesia HP:0008064 | Ichthyosis |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:11) HP:0000135 | Hypogonadism | 4 HP:0000458 | Anosmia | 3 HP:0000823 | Pubertal delay | 2 HP:0004322 | Stature below 3rd percentile | 1 HP:0001335 | Bimanual synkinesia | 1 HP:0008213 | Pituitary gonadotropin deficiency | 1 HP:0000835 | Hypoplastic adrenal glands | 1 HP:0004409 | Decreased smell sensation | 1 HP:0000089 | Small kidneys | 1 HP:0000674 | Anodontia | 1 HP:0000104 | Renal agenesis | 1 |
| Disease ID | 75 |
|---|---|
| Disease | kallmann syndrome |
| Manually Symptom | UMLS | Name(Total Manually Symptoms:7) |
| Text Mined Symptom | UMLS | Name | Sentences' Count(Total Symptoms:3) |
Manually Genotype(Total Manually Genotypes:2) | |||
|---|---|---|---|
| Gene | Mutation | DOI | Article Title |
| FGFR1 | - | doi:10.1038/gim.2015.51 | Clinical performance of the CytoScan Dx Assay in diagnosing developmental delay/intellectual disability |
| KAL1 | - | doi:10.1038/gim.2015.51 | Clinical performance of the CytoScan Dx Assay in diagnosing developmental delay/intellectual disability |
Text Mining Genotype(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
All Snps(Total Genotypes:5) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs114077338 | 21543378 | 2260 | FGFR1 | umls:C0162809 | BeFree | A rare variant of necdin (p.V318A) was described in a family with Kallmann syndrome associated with a FGFR1 mutation. | 0.262950464 | 2011 | NDN | 15 | 23686265 | A | G |
| rs114077338 | 21543378 | 4692 | NDN | umls:C0162809 | BeFree | A rare variant of necdin (p.V318A) was described in a family with Kallmann syndrome associated with a FGFR1 mutation. | 0.000271442 | 2011 | NDN | 15 | 23686265 | A | G |
| rs138672528 | 18559922 | 60675 | PROK2 | umls:C0162809 | BeFree | Among them, six had KS, four nIHH, and one KS proband carried both a PROKR2 (p.V115M) and PROK2 (p.A24P) mutation. | 0.257521627 | 2008 | PROKR2;FLJ33544 | 20 | 5314027 | C | T |
| rs267607165 | 23378218 | 10381 | TUBB3 | umls:C0162809 | BeFree | We now confirm by electrophysiology that a progressive sensorimotor polyneuropathy does indeed segregate with the mutation, and expand the TUBB3 E410K phenotype to include Kallmann syndrome (hypogonadotropic hypogonadism and anosmia), stereotyped midface hypoplasia, intellectual disabilities and, in some cases, vocal cord paralysis, tracheomalacia and cyclic vomiting. | 0.000542884 | 2013 | TUBB3 | 16 | 89935679 | G | A |
| rs267607165 | 25559402 | 10381 | TUBB3 | umls:C0162809 | BeFree | A heterozygous de novo c.1228G>A mutation (E410K) in the TUBB3 gene encoding the neuronal-specific β-tubulin isotype 3 (TUBB3) causes the TUBB3 E410K syndrome characterized by congenital fibrosis of the extraocular muscles (CFEOM), facial weakness, intellectual and social disabilities, and Kallmann syndrome (anosmia with hypogonadotropic hypogonadism). | 0.000542884 | 2015 | TUBB3 | 16 | 89935679 | G | A |
GWASdb Annotation(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
Mapped by lexical matching(Total Items:17) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0008734 | Decreased testicular size | MP:0003205 | testicular atrophy | acquired diminution of the size of the testis associated with wasting as from death and reabsorbtion of cells, diminished cellular proliferation, decreased cellular volume, pressure, ischemia, malnutrition, reduced function or malfunction, or hormonal cha |
| HP:0000175 | Cleft palate | MP:0013550 | abnormal secondary palate morphology | |
| HP:0000830 | Anterior hypopituitarism | MP:0003348 | hypopituitarism | reduction or cessation of secretion of one or more hormones from the anterior pituitary gland; this may result from ablation, tumors, infarction, or other trauma |
| HP:0009804 | Reduced number of teeth | MP:0012069 | abnormal horizontal basal cell of olfactory epithelium morphology | any structural anomaly of the flat or angular epithelial cell with condensed nuclei and darkly staining cytoplasm containing numerous intermediate filaments inserted into desmosomes contacting surrounding supporting cells, that lie in contact with the bas |
| HP:0001608 | Abnormality of the voice | MP:0013283 | failure of ventral body wall closure | failure of the lateral body wall folds (a combination of mesoderm and ectoderm arising on each side of the embryo) to progress ventrally and meet in the midline and/or fuse to close the ventral body wall; normally, this closure is aided by growth of the h |
| HP:0000407 | Sensorineural hearing impairment | MP:0006330 | syndromic hearing impairment | hearing impairment that is usually associated with malformations of the external ear and other inherited signs and symptoms |
| HP:0000551 | Abnormality of color vision | MP:0011665 | d-loop transposition of the great arteries | complete transposition of the great arteries; the d- refers to the dextroposition of the bulboventricular loop (ie, the position of the right ventricle, which is on the right side); in addition, the aorta also tends to be on the right and anterior, and th |
| HP:0003164 | Hypothalamic gonadotropin-releasing hormone (GNRH) deficiency | MP:0003969 | abnormal luteinizing hormone level | aberrant levels in the bloodstream of LH, the hormone that regulates steroid production by the interstitial cells of the testis and the ovary |
| HP:0001324 | Muscle weakness | MP:0000746 | weakness | state of being infirm or less strong than normal |
| HP:0001252 | Muscular hypotonia | MP:0004144 | hypotonia | decreased muscle tension resulting in limpness of the muscles in the resting state, not to be confused with weakness |
| HP:0004349 | Reduced bone mineral density | MP:0013630 | increased bone trabecular spacing | increase in the amount of space between trabeculae in cancellous bone |
| HP:0000144 | Decreased fertility | MP:0008975 | delayed male fertility | ability of a male organism to produce live offspring occurring at a later than expected age |
| HP:0003187 | Breast hypoplasia | MP:0009101 | clitoris hypoplasia | underdevelopment or reduced size of the clitoris, usually due to a reduced number of cells |
| HP:0000008 | Abnormality of female internal genitalia | MP:0009403 | increased variability of skeletal muscle fiber size | greater range or dispersion within a distribution of skeletal muscle fiber size within a muscle compared to controls |
| HP:0008736 | Hypoplasia of penis | MP:0013283 | failure of ventral body wall closure | failure of the lateral body wall folds (a combination of mesoderm and ectoderm arising on each side of the embryo) to progress ventrally and meet in the midline and/or fuse to close the ventral body wall; normally, this closure is aided by growth of the h |
| HP:0002757 | Recurrent fractures | MP:0004675 | rib fractures | a crack or break in the bones forming the bony wall of the chest |
| HP:0002750 | Delayed skeletal maturation | MP:0003379 | absent sexual maturation | failure to initiate pubertal changes that result in achievement of full sexual capacity |
Mapped by homologous gene(Total Items:42) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0001252 | Muscular hypotonia | MP:3000003 | abnormal Ebner's gland morphology | any structural anomaly of the serous salivary glands which reside adjacent to the moats surrounding the circumvallate and foliate papillae just anterior to the posterior third of the tongue, anterior to the terminal sulcus; these exocrine glands secrete l |
| HP:0001335 | Bimanual synkinesia | MP:0014198 | absent pituitary infundibular stalk | absence of the apical portion of the tubular structure extending from the hypothalamus to the posterior lobe of the pituitary gland |
| HP:0000508 | Ptosis | MP:0020321 | increased vascular endothelial cell apoptosis | increase in the timing or the number of vascular endothelial cells undergoing programmed cell death |
| HP:0000044 | Hypogonadotrophic hypogonadism | MP:3000003 | abnormal Ebner's gland morphology | any structural anomaly of the serous salivary glands which reside adjacent to the moats surrounding the circumvallate and foliate papillae just anterior to the posterior third of the tongue, anterior to the terminal sulcus; these exocrine glands secrete l |
| HP:0004409 | Hyposmia | MP:0013504 | increased embryonic tissue cell apoptosis | increase in the timing or the number of cells in embryonic tissue undergoing programmed cell death |
| HP:0001250 | Seizures | MP:3000003 | abnormal Ebner's gland morphology | any structural anomaly of the serous salivary glands which reside adjacent to the moats surrounding the circumvallate and foliate papillae just anterior to the posterior third of the tongue, anterior to the terminal sulcus; these exocrine glands secrete l |
| HP:0001288 | Gait disturbance | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0000054 | Micropenis | MP:3000003 | abnormal Ebner's gland morphology | any structural anomaly of the serous salivary glands which reside adjacent to the moats surrounding the circumvallate and foliate papillae just anterior to the posterior third of the tongue, anterior to the terminal sulcus; these exocrine glands secrete l |
| HP:0010550 | Paraplegia | MP:0011234 | abnormal retinol level | any anomaly in the concentration of retinol, which plays an essential role in metabolic functioning of the retina, and growth and differentiation |
| HP:0100639 | Erectile abnormalities | MP:0014198 | absent pituitary infundibular stalk | absence of the apical portion of the tubular structure extending from the hypothalamus to the posterior lobe of the pituitary gland |
| HP:0000008 | Abnormality of female internal genitalia | MP:0013785 | abnormal mammary gland bud morphology | any structural anomaly of the morphologically distinct bulb of epithelial cells formed once each mammary placode expands and invaginates into the underlying mesenchyme; in mouse embryos at E12.5, each epithelial bud with its contiguous mesenchyme is eleva |
| HP:0000407 | Sensorineural hearing impairment | MP:3000003 | abnormal Ebner's gland morphology | any structural anomaly of the serous salivary glands which reside adjacent to the moats surrounding the circumvallate and foliate papillae just anterior to the posterior third of the tongue, anterior to the terminal sulcus; these exocrine glands secrete l |
| HP:0000028 | Cryptorchidism | MP:3000003 | abnormal Ebner's gland morphology | any structural anomaly of the serous salivary glands which reside adjacent to the moats surrounding the circumvallate and foliate papillae just anterior to the posterior third of the tongue, anterior to the terminal sulcus; these exocrine glands secrete l |
| HP:0001337 | Tremor | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0001260 | Dysarthria | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0009804 | Reduced number of teeth | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0001324 | Muscle weakness | MP:0020309 | increased creatine kinase activity | increased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+). |
| HP:0002757 | Recurrent fractures | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0000551 | Abnormality of color vision | MP:0014059 | abnormal photoreceptor connecting cilium morphology | any structural anomaly of the nonmotile primary cilium that has a 9+0 microtubule array and forms the portion of the axoneme traversing the boundary between the retinal photoreceptor inner and outer segments |
| HP:0001761 | Pes cavus | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0001513 | Obesity | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0003164 | Hypothalamic gonadotropin-releasing hormone (GNRH) deficiency | MP:0014198 | absent pituitary infundibular stalk | absence of the apical portion of the tubular structure extending from the hypothalamus to the posterior lobe of the pituitary gland |
| HP:0008734 | Decreased testicular size | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0000175 | Cleft palate | MP:3000003 | abnormal Ebner's gland morphology | any structural anomaly of the serous salivary glands which reside adjacent to the moats surrounding the circumvallate and foliate papillae just anterior to the posterior third of the tongue, anterior to the terminal sulcus; these exocrine glands secrete l |
| HP:0001608 | Abnormality of the voice | MP:0020214 | susceptible to malignant hyperthermia | increased susceptibility to hyperthermia triggered by exposure to certain drugs used for general anesthesia, specifically the volatile anesthetic agents and the neuromuscular blocking agent, succinylcholine |
| HP:0000786 | Primary amenorrhea | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0000823 | Delayed puberty | MP:0020087 | increased susceptibility to non-insulin-dependent diabetes | increased likelihood to develop non-insulin-dependent diabetes |
| HP:0001251 | Ataxia | MP:0020301 | short tongue | decreased length of the mobile mass of muscular tissue and surrounding epithelial tissue occupying the cavity of the mouth and forming part of the floor |
| HP:0003187 | Breast hypoplasia | MP:0013886 | increased CD4-negative, CD25-positive NK T cell number | increase in the number of CD4-negative NK T cells expressing the activation marker CD25 |
| HP:0000639 | Nystagmus | MP:3000003 | abnormal Ebner's gland morphology | any structural anomaly of the serous salivary glands which reside adjacent to the moats surrounding the circumvallate and foliate papillae just anterior to the posterior third of the tongue, anterior to the terminal sulcus; these exocrine glands secrete l |
| HP:0002652 | Skeletal dysplasia | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0000458 | Anosmia | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0008064 | Ichthyosis | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0008736 | Hypoplasia of penis | MP:3000003 | abnormal Ebner's gland morphology | any structural anomaly of the serous salivary glands which reside adjacent to the moats surrounding the circumvallate and foliate papillae just anterior to the posterior third of the tongue, anterior to the terminal sulcus; these exocrine glands secrete l |
| HP:0002750 | Delayed skeletal maturation | MP:0020169 | increased thyroid gland weight | higher than average weight of the thyroid gland |
| HP:0001763 | Pes planus | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0004349 | Reduced bone mineral density | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0000104 | Renal agenesis | MP:0020039 | increased bone ossification | increase in the formation of bone or of a bony substance, or the conversion of fibrous tissue or of cartilage into bone or a bony substance |
| HP:0000505 | Visual impairment | MP:3000003 | abnormal Ebner's gland morphology | any structural anomaly of the serous salivary glands which reside adjacent to the moats surrounding the circumvallate and foliate papillae just anterior to the posterior third of the tongue, anterior to the terminal sulcus; these exocrine glands secrete l |
| HP:0000830 | Anterior hypopituitarism | MP:3000003 | abnormal Ebner's gland morphology | any structural anomaly of the serous salivary glands which reside adjacent to the moats surrounding the circumvallate and foliate papillae just anterior to the posterior third of the tongue, anterior to the terminal sulcus; these exocrine glands secrete l |
| HP:0000771 | Gynecomastia | MP:0014198 | absent pituitary infundibular stalk | absence of the apical portion of the tubular structure extending from the hypothalamus to the posterior lobe of the pituitary gland |
| HP:0000144 | Decreased fertility | MP:0014198 | absent pituitary infundibular stalk | absence of the apical portion of the tubular structure extending from the hypothalamus to the posterior lobe of the pituitary gland |
| Disease ID | 75 |
|---|---|
| Disease | kallmann syndrome |
| Case | (Waiting for update.) |