Human Phenotype Ontology 
Grandparent Node:
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Phenotypic abnormality (HP:0000118)help
Parent Node:
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Abnormality of the endocrine system (HP:0000818)help
..Starting node
..expand
Diabetes insipidus (HP:0000873)help
Term ID: 873
Name: Diabetes insipidus
Synonym:
Definition: 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).
Comments:
Reference: HP:0000873
Genes and Diseases:
 
       Child Nodes:
........expandCentral diabetes insipidus (HP:0000863) help
........expandNephrogenic diabetes insipidus (HP:0009806) help

 Sister Nodes: 
..expandAbnormal circulating hormone concentration (HP:0003117) help
..expandAbnormal endocrine morphology (HP:0031071) help
..expandAbnormal endocrine physiology (HP:0031072) help
..expandAbnormal urine hormone level (HP:0012029) help
..expandAbnormality of endocrine pancreas physiology (HP:0012093) help
..expandAbnormality of renin-angiotensin system (HP:0000847) help
..expandAbnormality of the adrenal glands (HP:0000834) help
..expandAbnormality of the hypothalamus-pituitary axis (HP:0000864) help
..expandAbnormality of the parathyroid gland (HP:0000828) help
..expandAbnormality of the pineal gland (HP:0012680) help
..expandAbnormality of the thymus (HP:0000777) help
..expandAbnormality of the thyroid gland (HP:0000820) help
..expandDiabetes mellitus (HP:0000819) help
..expandNeoplasm of the endocrine system (HP:0100568) help
..expandPuberty and gonadal disorders (HP:0008373) help
InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0000873HP:0000873Diabetes insipidus0AKT1 CL E G H207391ORPHA:744Proteus syndromeHP:0040283 - Occasional54
HP:0000873HP:0000873Diabetes insipidus0ALMS1 CL E G H7840428OMIM:203800Alstrom syndrome.404
HP:0000873HP:0000873Diabetes insipidus0ALX3 CL E G H257449ORPHA:391474FrontorhinyHP:0040283 - Occasional9
HP:0000873HP:0000873Diabetes insipidus0AQP2 CL E G H359634OMIM:125800Diabetes insipidus, nephrogenic, 275
HP:0000873HP:0000873Diabetes insipidus0AQP2 CL E G H359634ORPHA:223Nephrogenic diabetes insipidus75
HP:0000873HP:0000873Diabetes insipidus0ARL6 CL E G H8410013210OMIM:209900Bardet-Biedl syndrome 129
HP:0000873HP:0000873Diabetes insipidus0ARNT2 CL E G H991516876ORPHA:3157Septo-optic dysplasia spectrumHP:0040283 - Occasional
HP:0000873HP:0000873Diabetes insipidus0ARNT2 CL E G H991516876OMIM:615926Webb-Dattani syndrome.
HP:0000873HP:0000873Diabetes insipidus0AVP CL E G H551894OMIM:125700Diabetes insipidus, Neurohypophyseal type22
HP:0000873HP:0000873Diabetes insipidus0AVP CL E G H551894ORPHA:30925Hereditary central diabetes insipidusHP:0040281 - Very frequent22
HP:0000873HP:0000873Diabetes insipidus0AVPR2 CL E G H554897OMIM:304800Diabetes insipidus, nephrogenic, X-linked.67
HP:0000873HP:0000873Diabetes insipidus0AVPR2 CL E G H554897ORPHA:223Nephrogenic diabetes insipidus67
HP:0000873HP:0000873Diabetes insipidus0BBS1 CL E G H582966OMIM:209900Bardet-Biedl syndrome 1114
HP:0000873HP:0000873Diabetes insipidus0BRAF CL E G H6731097ORPHA:54595Craniopharyngioma276
HP:0000873HP:0000873Diabetes insipidus0BTNL2 CL E G H562441142ORPHA:797SarcoidosisHP:0040283 - Occasional1
HP:0000873HP:0000873Diabetes insipidus0CCDC28B CL E G H7914028163OMIM:209900Bardet-Biedl syndrome 14
HP:0000873HP:0000873Diabetes insipidus0CDON CL E G H5093717104ORPHA:93925Alobar holoprosencephalyHP:0040283 - Occasional200
HP:0000873HP:0000873Diabetes insipidus0CDON CL E G H5093717104ORPHA:93924Lobar holoprosencephalyHP:0040282 - Frequent200
HP:0000873HP:0000873Diabetes insipidus0CDON CL E G H5093717104ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040283 - Occasional200
HP:0000873HP:0000873Diabetes insipidus0CDON CL E G H5093717104ORPHA:95496Pituitary stalk interruption syndromeHP:0040283 - Occasional200
HP:0000873HP:0000873Diabetes insipidus0CDON CL E G H5093717104ORPHA:220386Semilobar holoprosencephalyHP:0040283 - Occasional200
HP:0000873HP:0000873Diabetes insipidus0CDON CL E G H5093717104ORPHA:280195Septopreoptic holoprosencephaly200
HP:0000873HP:0000873Diabetes insipidus0CISD2 CL E G H49385624212ORPHA:3463Wolfram syndromeHP:0040281 - Very frequent3
HP:0000873HP:0000873Diabetes insipidus0CNOT1 CL E G H230197877OMIM:618500Holoprosencephaly 12 with or without pancreatic agenesisHP:0040284 - Very rare2
HP:0000873HP:0000873Diabetes insipidus0CTLA4 CL E G H14932505ORPHA:900Granulomatosis with polyangiitisHP:0040283 - Occasional10
HP:0000873HP:0000873Diabetes insipidus0CTNNB1 CL E G H14992514ORPHA:54595Craniopharyngioma88
HP:0000873HP:0000873Diabetes insipidus0DISP1 CL E G H8497619711ORPHA:93925Alobar holoprosencephalyHP:0040283 - Occasional22
HP:0000873HP:0000873Diabetes insipidus0DISP1 CL E G H8497619711ORPHA:93924Lobar holoprosencephalyHP:0040282 - Frequent22
HP:0000873HP:0000873Diabetes insipidus0DISP1 CL E G H8497619711ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040283 - Occasional22
HP:0000873HP:0000873Diabetes insipidus0DISP1 CL E G H8497619711ORPHA:220386Semilobar holoprosencephalyHP:0040283 - Occasional22
HP:0000873HP:0000873Diabetes insipidus0DISP1 CL E G H8497619711ORPHA:280195Septopreoptic holoprosencephaly22
HP:0000873HP:0000873Diabetes insipidus0DLL1 CL E G H285142908ORPHA:93925Alobar holoprosencephalyHP:0040283 - Occasional3
HP:0000873HP:0000873Diabetes insipidus0DLL1 CL E G H285142908ORPHA:93924Lobar holoprosencephalyHP:0040282 - Frequent3
HP:0000873HP:0000873Diabetes insipidus0DLL1 CL E G H285142908ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040283 - Occasional3
HP:0000873HP:0000873Diabetes insipidus0DLL1 CL E G H285142908ORPHA:220386Semilobar holoprosencephalyHP:0040283 - Occasional3
HP:0000873HP:0000873Diabetes insipidus0DLL1 CL E G H285142908ORPHA:280195Septopreoptic holoprosencephaly3
HP:0000873HP:0000873Diabetes insipidus0FGF8 CL E G H22533686ORPHA:93925Alobar holoprosencephalyHP:0040283 - Occasional17
HP:0000873HP:0000873Diabetes insipidus0FGF8 CL E G H22533686ORPHA:93924Lobar holoprosencephalyHP:0040282 - Frequent17
HP:0000873HP:0000873Diabetes insipidus0FGF8 CL E G H22533686ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040283 - Occasional17
HP:0000873HP:0000873Diabetes insipidus0FGF8 CL E G H22533686ORPHA:220386Semilobar holoprosencephalyHP:0040283 - Occasional17
HP:0000873HP:0000873Diabetes insipidus0FGF8 CL E G H22533686ORPHA:280195Septopreoptic holoprosencephaly17
HP:0000873HP:0000873Diabetes insipidus0FGFR1 CL E G H22603688OMIM:615465Hartsfield syndrome.172
HP:0000873HP:0000873Diabetes insipidus0FGFR1 CL E G H22603688ORPHA:93924Lobar holoprosencephalyHP:0040282 - Frequent172
HP:0000873HP:0000873Diabetes insipidus0FGFR1 CL E G H22603688ORPHA:220386Semilobar holoprosencephalyHP:0040283 - Occasional172
HP:0000873HP:0000873Diabetes insipidus0FGFR1 CL E G H22603688ORPHA:3157Septo-optic dysplasia spectrumHP:0040283 - Occasional172
HP:0000873HP:0000873Diabetes insipidus0FOXH1 CL E G H89283814ORPHA:93925Alobar holoprosencephalyHP:0040283 - Occasional48
HP:0000873HP:0000873Diabetes insipidus0FOXH1 CL E G H89283814ORPHA:93924Lobar holoprosencephalyHP:0040282 - Frequent48
HP:0000873HP:0000873Diabetes insipidus0FOXH1 CL E G H89283814ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040283 - Occasional48
HP:0000873HP:0000873Diabetes insipidus0FOXH1 CL E G H89283814ORPHA:220386Semilobar holoprosencephalyHP:0040283 - Occasional48
HP:0000873HP:0000873Diabetes insipidus0FOXH1 CL E G H89283814ORPHA:280195Septopreoptic holoprosencephaly48
HP:0000873HP:0000873Diabetes insipidus0GAS1 CL E G H26194165ORPHA:93925Alobar holoprosencephalyHP:0040283 - Occasional2
HP:0000873HP:0000873Diabetes insipidus0GAS1 CL E G H26194165ORPHA:93924Lobar holoprosencephalyHP:0040282 - Frequent2
HP:0000873HP:0000873Diabetes insipidus0GAS1 CL E G H26194165ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040283 - Occasional2
HP:0000873HP:0000873Diabetes insipidus0GAS1 CL E G H26194165ORPHA:220386Semilobar holoprosencephalyHP:0040283 - Occasional2
HP:0000873HP:0000873Diabetes insipidus0GAS1 CL E G H26194165ORPHA:280195Septopreoptic holoprosencephaly2
HP:0000873HP:0000873Diabetes insipidus0GLA CL E G H27174296ORPHA:324Fabry diseaseHP:0040283 - Occasional291
HP:0000873HP:0000873Diabetes insipidus0GLI2 CL E G H27364318ORPHA:93925Alobar holoprosencephalyHP:0040283 - Occasional173
HP:0000873HP:0000873Diabetes insipidus0GLI2 CL E G H27364318OMIM:615849Culler-Jones syndromeHP:0040283 - Occasional173
HP:0000873HP:0000873Diabetes insipidus0GLI2 CL E G H27364318ORPHA:93924Lobar holoprosencephalyHP:0040282 - Frequent173
HP:0000873HP:0000873Diabetes insipidus0GLI2 CL E G H27364318ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040283 - Occasional173
HP:0000873HP:0000873Diabetes insipidus0GLI2 CL E G H27364318ORPHA:220386Semilobar holoprosencephalyHP:0040283 - Occasional173
HP:0000873HP:0000873Diabetes insipidus0GLI2 CL E G H27364318ORPHA:280195Septopreoptic holoprosencephaly173
HP:0000873HP:0000873Diabetes insipidus0GPR161 CL E G H2343223694ORPHA:95496Pituitary stalk interruption syndromeHP:0040283 - Occasional2
HP:0000873HP:0000873Diabetes insipidus0HESX1 CL E G H88204877ORPHA:95496Pituitary stalk interruption syndromeHP:0040283 - Occasional21
HP:0000873HP:0000873Diabetes insipidus0HESX1 CL E G H88204877ORPHA:3157Septo-optic dysplasia spectrumHP:0040283 - Occasional21
HP:0000873HP:0000873Diabetes insipidus0HESX1 CL E G H88204877OMIM:182230Septooptic dysplasia.21
HP:0000873HP:0000873Diabetes insipidus0HLA-B CL E G H31064932ORPHA:397Giant cell arteritisHP:0040283 - Occasional4
HP:0000873HP:0000873Diabetes insipidus0HLA-DPA1 CL E G H31134938ORPHA:900Granulomatosis with polyangiitisHP:0040283 - Occasional
HP:0000873HP:0000873Diabetes insipidus0HLA-DPB1 CL E G H31154940ORPHA:900Granulomatosis with polyangiitisHP:0040283 - Occasional1
HP:0000873HP:0000873Diabetes insipidus0HLA-DRB1 CL E G H31234948ORPHA:397Giant cell arteritisHP:0040283 - Occasional2
HP:0000873HP:0000873Diabetes insipidus0HLA-DRB1 CL E G H31234948ORPHA:797SarcoidosisHP:0040283 - Occasional2
HP:0000873HP:0000873Diabetes insipidus0LHX4 CL E G H8988421734ORPHA:95496Pituitary stalk interruption syndromeHP:0040283 - Occasional43
HP:0000873HP:0000873Diabetes insipidus0NODAL CL E G H48387865ORPHA:93925Alobar holoprosencephalyHP:0040283 - Occasional45
HP:0000873HP:0000873Diabetes insipidus0NODAL CL E G H48387865ORPHA:93924Lobar holoprosencephalyHP:0040282 - Frequent45
HP:0000873HP:0000873Diabetes insipidus0NODAL CL E G H48387865ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040283 - Occasional45
HP:0000873HP:0000873Diabetes insipidus0NODAL CL E G H48387865ORPHA:220386Semilobar holoprosencephalyHP:0040283 - Occasional45
HP:0000873HP:0000873Diabetes insipidus0NODAL CL E G H48387865ORPHA:280195Septopreoptic holoprosencephaly45
HP:0000873HP:0000873Diabetes insipidus0OCRL CL E G H49528108ORPHA:534Oculocerebrorenal syndrome of LoweHP:0040283 - Occasional88
HP:0000873HP:0000873Diabetes insipidus0OTX2 CL E G H50158522ORPHA:3157Septo-optic dysplasia spectrumHP:0040283 - Occasional41
HP:0000873HP:0000873Diabetes insipidus0P4HA2 CL E G H89748547ORPHA:397Giant cell arteritisHP:0040283 - Occasional3
HP:0000873HP:0000873Diabetes insipidus0PLCH1 CL E G H2300729185ORPHA:93925Alobar holoprosencephalyHP:0040283 - Occasional
HP:0000873HP:0000873Diabetes insipidus0PROKR2 CL E G H12867415836ORPHA:95496Pituitary stalk interruption syndromeHP:0040283 - Occasional34
HP:0000873HP:0000873Diabetes insipidus0PROKR2 CL E G H12867415836ORPHA:3157Septo-optic dysplasia spectrumHP:0040283 - Occasional34
HP:0000873HP:0000873Diabetes insipidus0PRPS1 CL E G H56319462ORPHA:423479X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndromeHP:0040282 - Frequent49
HP:0000873HP:0000873Diabetes insipidus0PRTN3 CL E G H56579495ORPHA:900Granulomatosis with polyangiitisHP:0040283 - Occasional
HP:0000873HP:0000873Diabetes insipidus0PTCH1 CL E G H57279585ORPHA:93925Alobar holoprosencephalyHP:0040283 - Occasional665
HP:0000873HP:0000873Diabetes insipidus0PTCH1 CL E G H57279585ORPHA:93924Lobar holoprosencephalyHP:0040282 - Frequent665
HP:0000873HP:0000873Diabetes insipidus0PTCH1 CL E G H57279585ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040283 - Occasional665
HP:0000873HP:0000873Diabetes insipidus0PTCH1 CL E G H57279585ORPHA:220386Semilobar holoprosencephalyHP:0040283 - Occasional665
HP:0000873HP:0000873Diabetes insipidus0PTCH1 CL E G H57279585ORPHA:280195Septopreoptic holoprosencephaly665
HP:0000873HP:0000873Diabetes insipidus0PTEN CL E G H57289588ORPHA:744Proteus syndromeHP:0040283 - Occasional948
HP:0000873HP:0000873Diabetes insipidus0PTPN22 CL E G H261919652ORPHA:397Giant cell arteritisHP:0040283 - Occasional3
HP:0000873HP:0000873Diabetes insipidus0PTPN22 CL E G H261919652ORPHA:900Granulomatosis with polyangiitisHP:0040283 - Occasional3
HP:0000873HP:0000873Diabetes insipidus0ROBO1 CL E G H609110249ORPHA:95496Pituitary stalk interruption syndromeHP:0040283 - Occasional7
HP:0000873HP:0000873Diabetes insipidus0SHH CL E G H646910848ORPHA:93925Alobar holoprosencephalyHP:0040283 - Occasional67
HP:0000873HP:0000873Diabetes insipidus0SHH CL E G H646910848OMIM:142945Holoprosencephaly 367
HP:0000873HP:0000873Diabetes insipidus0SHH CL E G H646910848ORPHA:93924Lobar holoprosencephalyHP:0040282 - Frequent67
HP:0000873HP:0000873Diabetes insipidus0SHH CL E G H646910848ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040283 - Occasional67
HP:0000873HP:0000873Diabetes insipidus0SHH CL E G H646910848ORPHA:220386Semilobar holoprosencephalyHP:0040283 - Occasional67
HP:0000873HP:0000873Diabetes insipidus0SHH CL E G H646910848ORPHA:280195Septopreoptic holoprosencephaly67
HP:0000873HP:0000873Diabetes insipidus0SIX3 CL E G H649610889ORPHA:93925Alobar holoprosencephalyHP:0040283 - Occasional32
HP:0000873HP:0000873Diabetes insipidus0SIX3 CL E G H649610889OMIM:157170Holoprosencephaly 2.32
HP:0000873HP:0000873Diabetes insipidus0SIX3 CL E G H649610889ORPHA:93924Lobar holoprosencephalyHP:0040282 - Frequent32
HP:0000873HP:0000873Diabetes insipidus0SIX3 CL E G H649610889ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040283 - Occasional32
HP:0000873HP:0000873Diabetes insipidus0SIX3 CL E G H649610889ORPHA:220386Semilobar holoprosencephalyHP:0040283 - Occasional32
HP:0000873HP:0000873Diabetes insipidus0SIX3 CL E G H649610889ORPHA:280195Septopreoptic holoprosencephaly32
HP:0000873HP:0000873Diabetes insipidus0SMC1A CL E G H824311111ORPHA:220386Semilobar holoprosencephalyHP:0040283 - Occasional135
HP:0000873HP:0000873Diabetes insipidus0SOX2 CL E G H665711195ORPHA:3157Septo-optic dysplasia spectrumHP:0040283 - Occasional33
HP:0000873HP:0000873Diabetes insipidus0SOX3 CL E G H665811199ORPHA:3157Septo-optic dysplasia spectrumHP:0040283 - Occasional24
HP:0000873HP:0000873Diabetes insipidus0STAG2 CL E G H1073511355ORPHA:93925Alobar holoprosencephalyHP:0040283 - Occasional1
HP:0000873HP:0000873Diabetes insipidus0STAG2 CL E G H1073511355ORPHA:220386Semilobar holoprosencephalyHP:0040283 - Occasional1
HP:0000873HP:0000873Diabetes insipidus0STIL CL E G H649110879ORPHA:93925Alobar holoprosencephalyHP:0040283 - Occasional99
HP:0000873HP:0000873Diabetes insipidus0STIL CL E G H649110879ORPHA:93924Lobar holoprosencephalyHP:0040282 - Frequent99
HP:0000873HP:0000873Diabetes insipidus0STIL CL E G H649110879ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040283 - Occasional99
HP:0000873HP:0000873Diabetes insipidus0STIL CL E G H649110879ORPHA:220386Semilobar holoprosencephalyHP:0040283 - Occasional99
HP:0000873HP:0000873Diabetes insipidus0STIL CL E G H649110879ORPHA:280195Septopreoptic holoprosencephaly99
HP:0000873HP:0000873Diabetes insipidus0STRADA CL E G H9233530172OMIM:611087Polyhydramnios, megalencephaly, and symptomatic epilepsy6
HP:0000873HP:0000873Diabetes insipidus0STRADA CL E G H9233530172ORPHA:500533Polyhydramnios-megalencephaly-symptomatic epilepsy syndromeHP:0040283 - Occasional6
HP:0000873HP:0000873Diabetes insipidus0TDGF1 CL E G H699711701ORPHA:93925Alobar holoprosencephalyHP:0040283 - Occasional1
HP:0000873HP:0000873Diabetes insipidus0TDGF1 CL E G H699711701ORPHA:93924Lobar holoprosencephalyHP:0040282 - Frequent1
HP:0000873HP:0000873Diabetes insipidus0TDGF1 CL E G H699711701ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040283 - Occasional1
HP:0000873HP:0000873Diabetes insipidus0TDGF1 CL E G H699711701ORPHA:220386Semilobar holoprosencephalyHP:0040283 - Occasional1
HP:0000873HP:0000873Diabetes insipidus0TDGF1 CL E G H699711701ORPHA:280195Septopreoptic holoprosencephaly1
HP:0000873HP:0000873Diabetes insipidus0TGIF1 CL E G H705011776ORPHA:93925Alobar holoprosencephalyHP:0040283 - Occasional32
HP:0000873HP:0000873Diabetes insipidus0TGIF1 CL E G H705011776ORPHA:93924Lobar holoprosencephalyHP:0040282 - Frequent32
HP:0000873HP:0000873Diabetes insipidus0TGIF1 CL E G H705011776ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040283 - Occasional32
HP:0000873HP:0000873Diabetes insipidus0TGIF1 CL E G H705011776ORPHA:220386Semilobar holoprosencephalyHP:0040283 - Occasional32
HP:0000873HP:0000873Diabetes insipidus0TGIF1 CL E G H705011776ORPHA:280195Septopreoptic holoprosencephaly32
HP:0000873HP:0000873Diabetes insipidus0TP63 CL E G H862615979OMIM:604292Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3140
HP:0000873HP:0000873Diabetes insipidus0TREX1 CL E G H1127712269OMIM:225750Aicardi-Goutieres syndrome 156
HP:0000873HP:0000873Diabetes insipidus0TTC26 CL E G H7998921882OMIM:619534BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME; BRENS
HP:0000873HP:0000873Diabetes insipidus0VIPAS39 CL E G H6389420347OMIM:613404Arthrogryposis, renal dysfunction, and cholestasis 227
HP:0000873HP:0000873Diabetes insipidus0VPS33B CL E G H2627612712OMIM:208085Arthrogryposis, renal dysfunction, and cholestasis 163
HP:0000873HP:0000873Diabetes insipidus0WDR11 CL E G H5571713831ORPHA:95496Pituitary stalk interruption syndromeHP:0040283 - Occasional10
HP:0000873HP:0000873Diabetes insipidus0WFS1 CL E G H746612762ORPHA:3463Wolfram syndromeHP:0040281 - Very frequent389
HP:0000873HP:0000873Diabetes insipidus0WFS1 CL E G H746612762OMIM:222300Wolfram syndrome 1.389
HP:0000873HP:0000873Diabetes insipidus0WFS1 CL E G H746612762ORPHA:411590Wolfram-like syndrome389
HP:0000873HP:0000873Diabetes insipidus0ZIC2 CL E G H754612873ORPHA:93925Alobar holoprosencephalyHP:0040283 - Occasional34
HP:0000873HP:0000873Diabetes insipidus0ZIC2 CL E G H754612873OMIM:609637Holoprosencephaly 534
HP:0000873HP:0000873Diabetes insipidus0ZIC2 CL E G H754612873ORPHA:93924Lobar holoprosencephalyHP:0040282 - Frequent34
HP:0000873HP:0000873Diabetes insipidus0ZIC2 CL E G H754612873ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040283 - Occasional34
HP:0000873HP:0000873Diabetes insipidus0ZIC2 CL E G H754612873ORPHA:220386Semilobar holoprosencephalyHP:0040283 - Occasional34
HP:0000873HP:0000873Diabetes insipidus0ZIC2 CL E G H754612873ORPHA:280195Septopreoptic holoprosencephaly34
HP:0000873HP:0009806Nephrogenic diabetes insipidus1AQP2 CL E G H359634OMIM:125800Diabetes insipidus, nephrogenic, 275
HP:0000873HP:0009806Nephrogenic diabetes insipidus1AQP2 CL E G H359634ORPHA:223Nephrogenic diabetes insipidusHP:0040280 - Obligate75
HP:0000873HP:0009806Nephrogenic diabetes insipidus1ARL6 CL E G H8410013210OMIM:209900Bardet-Biedl syndrome 1.29
HP:0000873HP:0000863Central diabetes insipidus1AVP CL E G H551894OMIM:125700Diabetes insipidus, Neurohypophyseal type.22
HP:0000873HP:0009806Nephrogenic diabetes insipidus1AVPR2 CL E G H554897ORPHA:223Nephrogenic diabetes insipidusHP:0040280 - Obligate67
HP:0000873HP:0009806Nephrogenic diabetes insipidus1BBS1 CL E G H582966OMIM:209900Bardet-Biedl syndrome 1.114
HP:0000873HP:0000863Central diabetes insipidus1BRAF CL E G H6731097ORPHA:54595CraniopharyngiomaHP:0040282 - Frequent276
HP:0000873HP:0009806Nephrogenic diabetes insipidus1CCDC28B CL E G H7914028163OMIM:209900Bardet-Biedl syndrome 1.4
HP:0000873HP:0000863Central diabetes insipidus1CDON CL E G H5093717104ORPHA:280195Septopreoptic holoprosencephalyHP:0040282 - Frequent200
HP:0000873HP:0000863Central diabetes insipidus1CTNNB1 CL E G H14992514ORPHA:54595CraniopharyngiomaHP:0040282 - Frequent88
HP:0000873HP:0000863Central diabetes insipidus1DISP1 CL E G H8497619711ORPHA:280195Septopreoptic holoprosencephalyHP:0040282 - Frequent22
HP:0000873HP:0000863Central diabetes insipidus1DLL1 CL E G H285142908ORPHA:280195Septopreoptic holoprosencephalyHP:0040282 - Frequent3
HP:0000873HP:0000863Central diabetes insipidus1FGF8 CL E G H22533686ORPHA:280195Septopreoptic holoprosencephalyHP:0040282 - Frequent17
HP:0000873HP:0000863Central diabetes insipidus1FOXH1 CL E G H89283814ORPHA:280195Septopreoptic holoprosencephalyHP:0040282 - Frequent48
HP:0000873HP:0000863Central diabetes insipidus1GAS1 CL E G H26194165ORPHA:280195Septopreoptic holoprosencephalyHP:0040282 - Frequent2
HP:0000873HP:0000863Central diabetes insipidus1GLI2 CL E G H27364318ORPHA:280195Septopreoptic holoprosencephalyHP:0040282 - Frequent173
HP:0000873HP:0000863Central diabetes insipidus1NODAL CL E G H48387865ORPHA:280195Septopreoptic holoprosencephalyHP:0040282 - Frequent45
HP:0000873HP:0000863Central diabetes insipidus1PTCH1 CL E G H57279585ORPHA:280195Septopreoptic holoprosencephalyHP:0040282 - Frequent665
HP:0000873HP:0000863Central diabetes insipidus1SHH CL E G H646910848OMIM:142945Holoprosencephaly 3.67
HP:0000873HP:0000863Central diabetes insipidus1SHH CL E G H646910848ORPHA:280195Septopreoptic holoprosencephalyHP:0040282 - Frequent67
HP:0000873HP:0000863Central diabetes insipidus1SIX3 CL E G H649610889ORPHA:280195Septopreoptic holoprosencephalyHP:0040282 - Frequent32
HP:0000873HP:0000863Central diabetes insipidus1STIL CL E G H649110879ORPHA:280195Septopreoptic holoprosencephalyHP:0040282 - Frequent99
HP:0000873HP:0000863Central diabetes insipidus1TDGF1 CL E G H699711701ORPHA:280195Septopreoptic holoprosencephalyHP:0040282 - Frequent1
HP:0000873HP:0000863Central diabetes insipidus1TGIF1 CL E G H705011776ORPHA:280195Septopreoptic holoprosencephalyHP:0040282 - Frequent32
HP:0000873HP:0000863Central diabetes insipidus1TP63 CL E G H862615979OMIM:604292Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3.140
HP:0000873HP:0009806Nephrogenic diabetes insipidus1VIPAS39 CL E G H6389420347OMIM:613404Arthrogryposis, renal dysfunction, and cholestasis 2HP:0040283 - Occasional27
HP:0000873HP:0009806Nephrogenic diabetes insipidus1VPS33B CL E G H2627612712OMIM:208085Arthrogryposis, renal dysfunction, and cholestasis 1HP:0040283 - Occasional63
HP:0000873HP:0000863Central diabetes insipidus1WFS1 CL E G H746612762ORPHA:411590Wolfram-like syndromeHP:0040282 - Frequent389
HP:0000873HP:0000863Central diabetes insipidus1ZIC2 CL E G H754612873OMIM:609637Holoprosencephaly 534
HP:0000873HP:0000863Central diabetes insipidus1ZIC2 CL E G H754612873ORPHA:280195Septopreoptic holoprosencephalyHP:0040282 - Frequent34


Genes (62) :AKT1 ALMS1 ALX3 AQP2 ARL6 ARNT2 AVP AVPR2 BBS1 BRAF BTNL2 CCDC28B CDON CISD2 CNOT1 CTLA4 CTNNB1 DISP1 DLL1 FGF8 FGFR1 FOXH1 GAS1 GLA GLI2 GPR161 HESX1 HLA-B HLA-DPA1 HLA-DPB1 HLA-DRB1 LHX4 NODAL OCRL OTX2 P4HA2 PLCH1 PROKR2 PRPS1 PRTN3 PTCH1 PTEN PTPN22 ROBO1 SHH SIX3 SMC1A SOX2 SOX3 STAG2 STIL STRADA TDGF1 TGIF1 TP63 TREX1 TTC26 VIPAS39 VPS33B WDR11 WFS1 ZIC2

Diseases (41) :ORPHA:744 OMIM:203800 ORPHA:391474 OMIM:125800 ORPHA:223 OMIM:209900 ORPHA:3157 OMIM:615926 OMIM:125700 ORPHA:30925 OMIM:304800 ORPHA:54595 ORPHA:797 ORPHA:93925 ORPHA:93924 ORPHA:93926 ORPHA:95496 ORPHA:220386 ORPHA:280195 ORPHA:3463 OMIM:618500 ORPHA:900 OMIM:615465 ORPHA:324 OMIM:615849 OMIM:182230 ORPHA:397 ORPHA:534 ORPHA:423479 OMIM:142945 OMIM:157170 OMIM:611087 ORPHA:500533 OMIM:604292 OMIM:225750 OMIM:619534 OMIM:613404 OMIM:208085 OMIM:222300 ORPHA:411590 OMIM:609637
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.