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Gene: Nr1h2 MGI:1352463

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Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
nuclear receptor subfamily 1, group H, member 2
Synonyms:
Unr2,  LXRB,  LXRbeta,  RIP15

Order Alleles

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Phenotype associated images not available

Human diseases caused by Nr1h2 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Nr1h2 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Testicular Microlithiasis
Testicular microlithiasis OMIM:610441
Hereditary Palmoplantar Keratoderma, Gamborg-Nielsen Type
Diffuse palmoplantar hyperkeratosis, Hyperkeratosis with erythema ORPHA:86923
Hyperkeratosis Lenticularis Perstans
Hyperkeratosis lenticularis perstans OMIM:144150
Ichthyosis Hystrix, Lambert Type
Orthokeratotic hyperkeratosis, Hyperkeratosis OMIM:146600
Angioma Serpiginosum, Autosomal Dominant
Hyperkeratosis OMIM:106050
Papillomatosis, Confluent And Reticulated
Hyperkeratosis OMIM:167900
Retinal Dysplasia, Primary
Retinal dysplasia, Falciform retinal fold OMIM:312550
Palmoplantar Keratoderma-Deafness Syndrome
Palmoplantar keratoderma, Hyperkeratosis ORPHA:2202
Retinitis Pigmentosa 36
Macular degeneration, Attenuation of retinal blood vessels, Bone spicule pigmentation of the reti... OMIM:610599
Mannose-Binding Lectin Deficiency
Recurrent herpes, Recurrent Klebsiella infections, Recurrent meningococcal disease, Disseminated ... OMIM:614372
Leber Congenital Amaurosis 13
Optic disc pallor, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina,... OMIM:612712
Immunodeficiency 34
Recurrent mycobacterial infections, Pulmonary tuberculosis, BCGosis OMIM:300645
Complement Component 7 Deficiency
Recurrent Neisserial infections, Recurrent meningococcal disease OMIM:610102
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein
Recurrent bacterial infections, Recurrent viral infections, Recurrent protozoan infections OMIM:308220
Immunodeficiency 38 With Basal Ganglia Calcification
Recurrent mycobacterial infections, Recurrent viral infections, Severe viral infection, BCGitis OMIM:616126
Immunodeficiency 30
Recurrent mycobacterial infections, Recurrent infections OMIM:614891
Complement Component 8 Deficiency, Type Ii
Meningitis, Recurrent Neisserial infections OMIM:613789
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency
Recurrent bacterial infections, Recurrent streptococcus pneumoniae infections, Recurrent staphylo... ORPHA:70592
Complement Factor D Deficiency
Recurrent bacterial infections OMIM:613912
Complement Component 6 Deficiency
Recurrent meningococcal disease OMIM:612446
X-Linked Retinal Dysplasia
Retinal dysplasia, Abnormal retinal vascular morphology, Abnormality of retinal pigmentation ORPHA:1852
Myelolymphatic Insufficiency
Recurrent bacterial infections, Recurrent viral infections OMIM:310350
Retinitis Pigmentosa 30
Optic atrophy, Attenuation of retinal blood vessels, Chorioretinal atrophy, Bone spicule pigmenta... OMIM:607921
Retinitis Pigmentosa 57
Attenuation of retinal blood vessels, Cystoid macular edema, Bone spicule pigmentation of the ret... OMIM:613582
Immunodeficiency, partial combined, with absence of hla determinantsand beta-2-microglobulin from lymphocytes
Recurrent bacterial infections, Recurrent candida infections OMIM:242870
Birdshot Chorioretinopathy
Abnormal chorioretinal morphology, Choroidal neovascularization, Retinal thinning, Epiretinal mem... ORPHA:179
Neutropenia, Severe Congenital, 6, Autosomal Recessive
Recurrent otitis media, Recurrent respiratory infections, Recurrent bacterial infections OMIM:616022
Retinitis Pigmentosa 33
Attenuation of retinal blood vessels, Optic disc pallor, Bone spicule pigmentation of the retina,... OMIM:610359
Immunodeficiency 51
Chronic mucocutaneous candidiasis, Recurrent respiratory infections, Recurrent otitis media, Recu... OMIM:613953
Retinoschisis 1, X-Linked, Juvenile
Mizuo phenomenon, Retinal degeneration, Vitreous hemorrhage, Retinal atrophy, Retinal detachment,... OMIM:312700
Whim Syndrome 1
Abnormal female external genitalia morphology, Recurrent upper respiratory tract infections, Recu... OMIM:193670
Immunodeficiency 28
Recurrent mycobacterial infections OMIM:614889
Neutrophil Actin Dysfunction
Recurrent bacterial infections OMIM:257150
Immunodeficiency, Common Variable, 5
Recurrent bacterial infections, Recurrent respiratory infections OMIM:613495
Pelizaeus-Merzbacher Disease
Optic atrophy, Reduction of oligodendroglia OMIM:312080
Testicular Regression Syndrome
Abnormal morphology of female internal genitalia, Decreased testicular size, Decreased fertility,... ORPHA:983
Exudative Vitreoretinopathy 7
Exudative vitreoretinopathy, Retinal degeneration, Retinal detachment, Retinal hole, Retinal fold OMIM:617572
Retinitis Pigmentosa 11
Macular edema, Macular degeneration, Bone spicule pigmentation of the retina, Rod-cone dystrophy,... OMIM:600138
Retinitis Pigmentosa 81
Optic disc pallor, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina,... OMIM:617871
Ficolin 3 Deficiency
Recurrent lower respiratory tract infections, Recurrent Staphylococcus aureus infections, Recurre... OMIM:613860
Immunodeficiency 35
Recurrent mycobacterial infections, Recurrent fungal infections, Recurrent viral infections, Recu... OMIM:611521
Leydig Cell Hypoplasia
Male hypogonadism, Hypoplasia of the Leydig cells, Breast aplasia, Abnormal external genitalia, I... ORPHA:755
Glut1 Deficiency Syndrome 1
Spasticity, Myoclonus, Hemiparesis, Babinski sign, Paralysis, Ataxia, Choreoathetosis OMIM:606777
Perrault Syndrome 6
Irregular menstruation, Streak ovary, Primary amenorrhea, Premature ovarian insufficiency, Hypopl... OMIM:617565
Premature Ovarian Failure 7
Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Gonadal dysgenesis, Elevate... OMIM:612964
Ovarian Dysgenesis 2
Streak ovary, Primary amenorrhea, Premature ovarian insufficiency, Hypoplasia of the uterus, Seco... OMIM:300510
Retinitis Pigmentosa 70
Macular degeneration, Attenuation of retinal blood vessels, Retinal degeneration, Rod-cone dystro... OMIM:615922
Premature Ovarian Failure 3
Premature ovarian insufficiency, Hypoplasia of the uterus, Secondary amenorrhea OMIM:608996
Classic Glucose Transporter Type 1 Deficiency Syndrome
Spasticity, Chorea, Myoclonus, Hemiparesis, Paralysis, Apraxia, Hypertonia, Ataxia, Choreoathetos... ORPHA:71277
46,Xy Sex Reversal 11
Elevated circulating luteinizing hormone level, Vanishing testis, Primary amenorrhea, Aplasia of ... OMIM:273250
Immunodeficiency 31A
BCGitis, Recurrent viral infections, Recurrent mycobacterium avium complex infections, Herpes sim... OMIM:614892
Immunodeficiency With Hyper-Igm, Type 5
Recurrent bacterial infections, Epididymitis, Recurrent upper and lower respiratory tract infections OMIM:608106
Variant Abeta2M Amyloidosis
Renal amyloidosis, Amyloidosis of peripheral nerves, Hepatic amyloidosis, Cutaneous amyloidosis, ... ORPHA:314652
Progressive Multifocal Leukoencephalopathy
Abnormal astrocyte morphology, Abnormal oligodendroglia morphology ORPHA:217260
Immunodeficiency 31B
Recurrent mycobacterial infections, Recurrent viral infections, Herpes simplex encephalitis OMIM:613796
Hereditary Butyrylcholinesterase Deficiency
Paralysis, Chronic infection ORPHA:132
Griscelli Syndrome, Type 2
Recurrent bacterial infections, Spasticity OMIM:607624
Premature Ovarian Failure 6
Elevated circulating luteinizing hormone level, Female infertility, Streak ovary, Elevated circul... OMIM:612310
Immunodeficiency 61
Recurrent otitis media, Recurrent respiratory infections, Recurrent sinusitis, Recurrent bacteria... OMIM:300310
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 3
Paralysis OMIM:608634
Immunodeficiency 116
Recurrent bacterial infections, Recurrent respiratory infections, Recurrent viral infections OMIM:608957
Diethylstilbestrol Syndrome
Hypoplasia of the uterus, Abnormality of the uterus, Vaginal neoplasm, Cryptorchidism, Testicular... ORPHA:1916
Premature Ovarian Failure 13
Female infertility, Amenorrhea, Elevated circulating follicle stimulating hormone level, Oligomen... OMIM:617442
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 2
Paralysis OMIM:158590
Ovarian Dysgenesis 6
Hypoplasia of the uterus, Hypergonadotropic hypogonadism, Primary amenorrhea OMIM:618078
Retinitis Pigmentosa 13
Attenuation of retinal blood vessels, Asteroid hyalosis, Cystoid macular edema, Retinal degenerat... OMIM:600059
Vocal Cord Paralysis And Ptosis
Vocal cord paralysis OMIM:193240
Complement Component 3 Deficiency, Autosomal Recessive
Recurrent bacterial infections, Recurrent pneumonia, Recurrent tonsillitis OMIM:613779
Laryngeal Adductor Paralysis
Paralysis OMIM:150270
Agammaglobulinemia 2, Autosomal Recessive
Recurrent pneumonia, Recurrent otitis media, Recurrent bacterial infections, Meningitis, Recurren... OMIM:613500
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Male hypogonadism, Abnormal vagina morphology, Gonadal dysgenesis, Abnormal female external genit... ORPHA:168563
Immunodeficiency With Hyper-Igm, Type 2
Recurrent bacterial infections, Recurrent respiratory infections, Recurrent infection of the gast... OMIM:605258
Immunodeficiency 110 With Lymphoproliferation
Recurrent upper respiratory tract infections, Recurrent viral infections, Recurrent pneumonia, Ch... OMIM:614868
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Hyperlipidemia, Axonal degeneration, Decreased number of peripheral myelinated nerve fibers, Glio... OMIM:604484
Immunodeficiency, Common Variable, 4
Recurrent bacterial infections, Recurrent pneumonia, Recurrent sinusitis OMIM:613494
Mitochondrial Complex Iv Deficiency, Nuclear Type 6
Retinopathy, Gliosis OMIM:615119
Premature Ovarian Failure 18
Irregular menstruation, Elevated circulating luteinizing hormone level, Hypoplasia of the ovary, ... OMIM:619203
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7
Vocal cord paresis, Vocal cord paralysis, Tremor OMIM:158580
Familial Exudative Vitreoretinopathy
Macular edema, Vitreoretinopathy, Subretinal fluid, Epiretinal membrane, Tractional retinal detac... ORPHA:891
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency
Recurrent mycobacterial infections, Recurrent Klebsiella infections, Recurrent candida infections... ORPHA:319552
46,Xx Ovotesticular Difference Of Sex Development
Small scrotum, Hypospadias, Bifid scrotum, Abnormal morphology of female internal genitalia, Abno... ORPHA:2138
Leg, Absence Deformity Of, With Congenital Cataract
Optic nerve dysplasia OMIM:246000
Partial Androgen Insensitivity Syndrome
Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Male sexual dysfunction, Bi... ORPHA:90797
Porphyria, Acute Hepatic
Respiratory paralysis, Paralysis OMIM:612740
46,Xy Sex Reversal 8
Male pseudohermaphroditism, Ambiguous genitalia, Cryptorchidism, Sex reversal OMIM:614279
Agammaglobulinemia 3, Autosomal Recessive
Recurrent otitis media, Recurrent lower respiratory tract infections, Recurrent bronchitis, Recur... OMIM:613501
Horner Syndrome, Congenital
Paralysis OMIM:143000
Complete Androgen Insensitivity Syndrome
Elevated circulating luteinizing hormone level, Abnormal morphology of female internal genitalia,... ORPHA:99429
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Decreased testicular size, Azoospermia, Cryptorchidism, Hypogonadotropic hypogonadism, Primary am... OMIM:614837
Perrault Syndrome 4
Gait ataxia, Hypoplasia of the ovary, Oligomenorrhea, Primary amenorrhea, Increased circulating g... OMIM:615300
Immunodeficiency, Common Variable, 3
Recurrent otitis media, Recurrent respiratory infections, Recurrent sinusitis, Recurrent bacteria... OMIM:613493
Granulomatous disease with defect in neutrophil chemotaxis
Recurrent staphylococcal infections OMIM:233670
Complement Factor H Deficiency
Recurrent bacterial infections OMIM:609814
Immunodeficiency 112
Recurrent viral infections, Chronic mucocutaneous candidiasis, BCGitis, BCGosis, Recurrent bacter... OMIM:620449
Retinitis Pigmentosa 86
Nummular pigmentation of the fundus, Attenuation of retinal blood vessels, Cystoid macular edema,... OMIM:618613
Ovarian Dysgenesis 9
Elevated circulating luteinizing hormone level, Hypoplasia of the ovary, Elevated circulating fol... OMIM:619665
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Recurrent enteroviral infections, Enteroviral dermatomyositis syndrome, Recurrent otitis media, P... OMIM:307200
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Decreased testicular size, Cryptorchidism, Hypogonadotropic hypogonadism, Hypoplasia of the ovary... OMIM:614841
Inherited Creutzfeldt-Jakob Disease
Astrocytosis, Abnormal autonomic nervous system physiology, Amyloidosis of peripheral nerves, Ves... ORPHA:282166
L-2-Hydroxyglutaric Aciduria
Optic atrophy, Gliosis, L-2-hydroxyglutaric acidemia OMIM:236792
Immunodeficiency, Common Variable, 13
Recurrent bacterial infections, Recurrent fungal infections, Recurrent viral infections OMIM:616873
Ovarian Dysgenesis 7
Hypoplasia of the uterus, Elevated circulating luteinizing hormone level, Elevated circulating fo... OMIM:618117
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type)
Paralysis OMIM:613710
Immunodeficiency 84
Recurrent bacterial infections, Persistent EBV viremia OMIM:619437
Mirage Syndrome
Sepsis, Microphallus, Recurrent urinary tract infections, Decreased testicular size, Paraplegia, ... OMIM:617053
Neutropenia, Severe Congenital, 3, Autosomal Recessive
Recurrent bacterial infections, Clumsiness OMIM:610738
Agammaglobulinemia 4, Autosomal Recessive
Recurrent otitis media, Recurrent pneumonia, Recurrent bacterial infections OMIM:613502
Immunodeficiency 33
Recurrent bacterial infections, Pneumocystis jirovecii pneumonia, Disseminated nontuberculous myc... OMIM:300636
Immunodeficiency, Common Variable, 2
Recurrent pneumonia, Recurrent otitis media, Recurrent bronchitis, Recurrent sinusitis, Recurrent... OMIM:240500
Mhc Class Ii Deficiency 1
Recurrent upper respiratory tract infections, Recurrent viral infections, Chronic mucocutaneous c... OMIM:209920
T-Cell Immunodeficiency With Thymic Aplasia
Sepsis, Invasive fungal infection, Opportunistic infection, Severe viral infection, Recurrent can... ORPHA:83471
Ovarian Dysgenesis 5
Hypoplasia of the uterus, Elevated circulating luteinizing hormone level, Elevated circulating fo... OMIM:617690
Variegate Porphyria
Paralysis OMIM:176200
Perrault Syndrome 3
Elevated circulating luteinizing hormone level, Streak ovary, Elevated circulating follicle stimu... OMIM:614129
Neuropathy, Hereditary Motor And Sensory, Russe Type
Paralysis OMIM:605285
Acute Peripheral Arterial Occlusion
Paralysis ORPHA:90064
Complement Factor B Deficiency
Recurrent bacterial infections, Meningitis, Recurrent meningococcal disease OMIM:615561
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia
Axonal loss, Gliosis, Amyotrophic lateral sclerosis OMIM:300857
Leigh Syndrome, Nuclear
Optic atrophy, Pigmentary retinopathy, Gliosis OMIM:256000
Lethal Congenital Contracture Syndrome 7
Paralysis OMIM:616286
Immunodeficiency By Defective Expression Of Mhc Class Ii
Recurrent viral infections, Chronic mucocutaneous candidiasis, Recurrent protozoan infections, Re... ORPHA:572
Leukoencephalopathy With Ataxia
Choroidal neovascularization, Retinoschisis, Optic neuropathy, Chorioretinal atrophy OMIM:615651
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections
Recurrent pneumonia, Recurrent viral infections, Sepsis, Severe viral infection, Recurrent otitis... OMIM:243700
Agammaglobulinemia 6, Autosomal Recessive
Recurrent otitis media, Recurrent pneumonia, Recurrent bronchitis, Recurrent bacterial infections OMIM:612692
Immunodeficiency With Hyper-Igm, Type 4
Recurrent bacterial infections, Recurrent upper respiratory tract infections, Recurrent infection... OMIM:608184
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Recurrent mycobacterial infections, Recurrent viral infections, Recurrent gastroenteritis, Recurr... ORPHA:275
46,Xy Sex Reversal 7
Sex reversal, Hypoplasia of the fallopian tube, Streak ovary, Abnormal epididymis morphology, Gon... OMIM:233420
Mayer-Rokitansky-Kuster-Hauser Syndrome
Hematocolpos, Abnormal female external genitalia morphology, Aplasia of the vagina, Polycystic ov... OMIM:277000
Amyloidosis, Finnish Type
Generalized amyloid deposition, Orthostatic hypotension, Renal glomerular amyloid deposition, Opt... OMIM:105120
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Recurrent mycobacterial infections, Invasive fungal infection, Chronic mucocutaneous candidiasis,... ORPHA:98813
46,Xy Sex Reversal 3
Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Gonadal dysgenesis, Ambiguo... OMIM:612965
Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1
Paralysis, Parkinsonism OMIM:105500
Normosmic Congenital Hypogonadotropic Hypogonadism
Male hypogonadism, Non-obstructive azoospermia, Decreased testicular size, Azoospermia, Breast hy... ORPHA:432
Mullerian Aplasia And Hyperandrogenism
Aplasia of the fallopian tube, Aplasia of the vagina, Aplasia of the uterus, Primary amenorrhea, ... OMIM:158330
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Sepsis, Chronic mucocutaneous candidiasis, Severe recurrent varicella, Recurrent cutaneous fungal... ORPHA:276
Immunodeficiency 27B
Recurrent mycobacterial infections, Recurrent mycobacterium avium complex infections OMIM:615978
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Recurrent upper respiratory tract infections, Recurrent pneumonia, Sepsis, Recurrent tonsillitis,... ORPHA:183675
Hydatidiform Mole
Menometrorrhagia, Enlarged uterus ORPHA:99927
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Irregular menstruation, Male hypogonadism, Precocious puberty in females, Elevated circulating lu... ORPHA:90793
Immunodeficiency, Common Variable, 1
Recurrent pneumonia, Recurrent otitis media, Recurrent bronchitis, Recurrent sinusitis, Recurrent... OMIM:607594
Adult Idiopathic Neutropenia
Recurrent bacterial infections, Helicobacter pylori infection, Recurrent infections, Recurrent fu... ORPHA:2688
X-Linked Adrenoleukodystrophy
Progressive spastic paraparesis, Incoordination, Hemiparesis, Clumsiness, Paralysis, Paraparesis,... ORPHA:43
Cerebral Cavernous Malformations 3
Paralysis OMIM:603285
Immunodeficiency 115 With Autoinflammation
Recurrent bacterial infections, Recurrent viral infections, Candida esophagitis OMIM:620632
Cernunnos-Xlf Deficiency
Recurrent bacterial infections, Recurrent viral infections ORPHA:169079
Primary Angiitis Of The Central Nervous System
Tetraparesis, Hemiparesis, Paralysis, Parkinsonism, Paraparesis, Ataxia ORPHA:140989
Immunodeficiency With Hyper-Igm, Type 3
Recurrent bacterial infections OMIM:606843
Hypokalemic Periodic Paralysis
Respiratory paralysis, Paralysis, Periodic hypokalemic paresis ORPHA:681
Coloboma Of Optic Nerve
Retinal detachment, Optic disc coloboma OMIM:120430
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness
Recurrent Haemophilus influenzae infections, Recurrent bronchitis OMIM:300455
Immunodeficiency 21
Recurrent fungal infections, Recurrent viral infections, Recurrent mycobacterium avium complex in... OMIM:614172
Specific Granule Deficiency 2
Recurrent otitis media, Recurrent pneumonia, Sepsis, Recurrent bacterial infections OMIM:617475
Combined Immunodeficiency Due To Zap70 Deficiency
Recurrent mycobacterial infections, Recurrent viral infections, Chronic mucocutaneous candidiasis... ORPHA:911
Reese Retinal Dysplasia
Retinal dysplasia, Remnants of the hyaloid vascular system OMIM:266400
Myeloma, Multiple
Paraproteinemia, Amyloidosis OMIM:254500
Myasthenic Syndrome, Congenital, 16
Periodic paralysis OMIM:614198
Selective Igm Deficiency
Recurrent bronchitis, Meningitis, Recurrent sinusitis, Recurrent infections, Recurrent herpes, Re... ORPHA:331235
Immunodeficiency, Common Variable, 6
Recurrent bacterial infections, Recurrent respiratory infections OMIM:613496
Renal Coloboma Syndrome
Optic nerve dysplasia, Optic disc coloboma, Retinal coloboma ORPHA:1475
46,Xx Sex Reversal 2
Small scrotum, Elevated circulating luteinizing hormone level, Bifid scrotum, Non-obstructive azo... OMIM:278850
Purine Nucleoside Phosphorylase Deficiency
Recurrent upper respiratory tract infections, Recurrent viral infections, Recurrent urinary tract... OMIM:613179
Combined Immunodeficiency Due To Crac Channel Dysfunction
Recurrent mycobacterial infections, Recurrent viral infections, Sepsis, Recurrent fungal infectio... ORPHA:169090
Juvenile Glaucoma
Abnormal optic nerve morphology, Retinal vein occlusion, Retinal arterial occlusion, Increased cu... ORPHA:98977
Vaginal Atresia
Imperforate hymen, Uterus didelphys, Abnormality of the uterus, Vaginal hematocele, Transverse va... ORPHA:65681
Spinocerebellar Ataxia Type 3
Abnormality of extrapyramidal motor function, Clumsiness, Abnormal pyramidal sign, Vocal cord par... ORPHA:98757
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Elevated circulating luteinizing hormone level, Decreased testicular size, Decreased fertility, C... ORPHA:90796
Immunodeficiency 10
Recurrent pneumonia, Sepsis, Recurrent urinary tract infections, Recurrent otitis media, Recurren... OMIM:612783
X-Linked Severe Congenital Neutropenia
Recurrent bacterial infections ORPHA:86788
Aapoaiv Amyloidosis
Renal amyloidosis, Paraproteinemia, Elevated circulating creatinine concentration, Hyperlipidemia... ORPHA:439232
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Recurrent bacterial infections OMIM:202700
Congenital Disorder Of Glycosylation, Type Iif
Recurrent bacterial infections, Ataxia OMIM:603585
Autosomal Dominant Severe Congenital Neutropenia
Recurrent viral infections, Recurrent infection of the gastrointestinal tract, Recurrent sinopulm... ORPHA:486
Satoyoshi Syndrome
Abnormality of the uterus, Abnormality of the ovary, Amenorrhea, Hypoplasia of the ovary, Hypopla... ORPHA:3130
Papillorenal Syndrome
Macular degeneration, Optic disc coloboma, Retinal coloboma, Elevated circulating creatinine conc... OMIM:120330
Testicular Agenesis
Absent external genitalia, Hypoplasia of the uterus, Vanishing testis, Ambiguous genitalia, Uroge... ORPHA:325124
Familial Cervical Artery Dissection
Paralysis ORPHA:36382
Neutropenia, Severe Congenital, X-Linked
Recurrent bacterial infections OMIM:300299
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Decreased response to growth hormone stimulation test, Cryptorchidism, Recurrent bacterial infect... OMIM:241410
Mayer-Rokitansky-Küster-Hauser Syndrome
Ectopic ovary, Aplasia of the ovary, Endometriosis, Aplasia of the uterus, Dyspareunia, Primary a... ORPHA:3109
Complement Factor I Deficiency
Recurrent urinary tract infections, Recurrent otitis media, Recurrent sinusitis, Recurrent mening... OMIM:610984
Specific Granule Deficiency 1
Recurrent otitis media, Recurrent pneumonia, Recurrent bacterial infections OMIM:245480
Snakebite Envenomation
Hypopituitarism, Paralysis, Respiratory paralysis, Pseudobulbar paralysis ORPHA:449285
Immunodeficiency 23
Chronic mucocutaneous candidiasis, Recurrent respiratory infections, Molluscum contagiosum, Myocl... OMIM:615816
Amyloidosis, Hereditary Systemic 1
Amyloidosis, Pulmonary edema, Peripheral axonal neuropathy, Orthostatic hypotension due to autono... OMIM:105210
Toxin-Mediated Infectious Botulism
Diaphragmatic paralysis, Paralysis, Cerebral palsy ORPHA:230800
Hypocomplementemic Urticarial Vasculitis
Cerebral palsy, Hemiplegia/hemiparesis, Ataxia, Recurrent bacterial infections, Meningitis ORPHA:36412
Complement Component 5 Deficiency
Recurrent Neisserial infections, Recurrent meningococcal disease OMIM:609536
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak
Periodic paralysis, Hand tremor OMIM:609153
Primary Ciliary Dyskinesia
Recurrent mycobacterial infections, Abnormal sperm motility, Female infertility, Recurrent otitis... ORPHA:244
Immunodeficiency With Hyper-Igm, Type 1
Pneumocystis carinii pneumonia, Sepsis, Enteroviral encephalitis, Ankle clonus, Meningitis, Recur... OMIM:308230
Whim Syndrome
Recurrent upper respiratory tract infections, Sepsis, Recurrent pneumonia, Parotitis, Limb ataxia... ORPHA:51636
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia
Hypogonadotropic hypogonadism, Hypoplasia of the uterus OMIM:614842
Gm2-Gangliosidosis, Ab Variant
Chorea, Paralysis, Abnormal pyramidal sign, Hypertonia, Exaggerated startle response, Spastic tet... OMIM:272750
Proteasome-Associated Autoinflammatory Syndrome 2
Recurrent bacterial infections, Recurrent viral infections OMIM:618048
Leukocyte Adhesion Deficiency, Type I
Chronic mucocutaneous candidiasis, Recurrent gram-negative bacterial infections, Recurrent bacter... OMIM:116920
Hypokalemic Periodic Paralysis, Type 2
Periodic paralysis OMIM:613345
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Midshaft hypospadias, Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Abnor... ORPHA:168558
Renal And Mullerian Duct Hypoplasia
Aplasia of the uterus, Anteriorly displaced urethral meatus, Hydrocele testis OMIM:266810
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Recurrent Klebsiella infections, Recurrent pneumonia, Recurrent Burkholderia cepacia infections, ... OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Recurrent Klebsiella infections, Recurrent pneumonia, Recurrent Burkholderia cepacia infections, ... OMIM:233710
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Midshaft hypospadias, Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Abnor... ORPHA:289548
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Severe varicella zoster infection, Recurrent viral infections, Recurrent fungal infections, Recur... OMIM:606367
Estrogen Resistance
Primary amenorrhea, Hypoplasia of the uterus, Breast aplasia, Polycystic ovaries OMIM:615363
Amyloidosis, Primary Localized Cutaneous, 2
Cutaneous amyloidosis OMIM:613955
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome
Uterus didelphys, Septate vagina, Aplasia of the vagina, Aplasia of the uterus, Primary amenorrhe... OMIM:146255
Pgm3-Cdg
Recurrent pneumonia, Recurrent viral infections, Sepsis, Recurrent respiratory infections, Myoclo... ORPHA:443811
46,Xy Sex Reversal 4
Gonadal dysgenesis, Recurrent otitis media, Hypoplastic labia majora, Hypoplasia of the uterus, A... OMIM:154230
Immunodeficiency 36 With Lymphoproliferation
Persistent CMV viremia, Recurrent upper respiratory tract infections, Recurrent bacterial infecti... OMIM:616005
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Paralysis, Goiter ORPHA:83601
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Recurrent Klebsiella infections, Recurrent pneumonia, Recurrent Burkholderia cepacia infections, ... OMIM:233690
Ichthyosis, Congenital, Autosomal Recessive 2
Paralysis, External genital hypoplasia OMIM:242100
Leukocyte Adhesion Deficiency, Type Iii
Recurrent bacterial infections, Sepsis OMIM:612840
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Periodic paralysis, Tremor, Goiter OMIM:613239
Japanese Encephalitis
Pill-rolling tremor, Cogwheel rigidity, Myoclonus, Tremor, Infectious encephalitis, Abnormality o... ORPHA:79139
Machado-Joseph Disease Type 1
Spasticity, Abnormality of extrapyramidal motor function, Babinski sign, Progressive gait ataxia,... ORPHA:276238
Machado-Joseph Disease Type 2
Spasticity, Abnormality of extrapyramidal motor function, Babinski sign, Progressive gait ataxia,... ORPHA:276241
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies
Recurrent viral infections, Recurrent urinary tract infections, Recurrent fungal infections, Atax... ORPHA:221139
Hypokalemic Periodic Paralysis, Type 1
Periodic paralysis OMIM:170400
Mannosidosis, Alpha B, Lysosomal
Spasticity, Limb ataxia, Gait ataxia, Babinski sign, Abnormal pyramidal sign, Recurrent bacterial... OMIM:248500
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Recurrent viral infections, Recurrent enteroviral infections, Recurrent fungal infections, Recurr... ORPHA:331206
Amyloidosis, Hereditary Systemic 2
Generalized amyloid deposition, Renal amyloidosis OMIM:105200
Agammaglobulinemia 1, Autosomal Recessive
Recurrent pneumonia, Recurrent enteroviral infections, Recurrent otitis media, Recurrent sinusiti... OMIM:601495
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Recurrent upper respiratory tract infections, Sepsis, Recurrent urinary tract infections, Cryptor... OMIM:612541
Idiopathic Bronchiectasis
Recurrent Haemophilus influenzae infections, Recurrent lower respiratory tract infections ORPHA:60033
Foodborne Botulism
Diaphragmatic paralysis, Paralysis, Cerebral palsy ORPHA:228371
Immunodeficiency 12
Recurrent bacterial infections, Recurrent lower respiratory tract infections, Recurrent viral inf... OMIM:615468
Cystic Fibrosis
Absent vas deferens, Recurrent respiratory infections, Recurrent Burkholderia cepacia infections,... ORPHA:586
Tsh-Secreting Pituitary Adenoma
Periodic hypokalemic paresis, Increased circulating prolactin concentration, Decreased fertility ... ORPHA:91347
Infantile Systemic Hyalinosis
Recurrent bacterial infections, Polycystic ovaries ORPHA:2176
Glioblastoma
Paralysis ORPHA:360
Sickle Cell Disease
Recurrent bacterial infections, Cholelithiasis, Priapism OMIM:603903
Patent Urachus
Recurrent gram-negative bacterial infections, Cystocele, Recurrent urinary tract infections ORPHA:431341
Amyloidosis, Primary Localized Cutaneous, 1
Cutaneous amyloidosis OMIM:105250
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Periodic paralysis, Goiter OMIM:188580
Postinfectious Vasculitis
Recurrent mycobacterial infections, Invasive fungal infection, Severe viral infection, Recurrent ... ORPHA:48435
Amyloidosis, Cutaneous Bullous
Amyloidosis OMIM:204900
Machado-Joseph Disease Type 3
Spasticity, Abnormality of extrapyramidal motor function, Babinski sign, Progressive gait ataxia,... ORPHA:276244
Kenny-Caffey Syndrome, Type 1
Recurrent bacterial infections, Congenital hypoparathyroidism OMIM:244460
Omenn Syndrome
Recurrent bacterial infections, Hypoplasia of the thymus, Recurrent fungal infections, Recurrent ... OMIM:603554
Immunodeficiency 67
Meningitis, Recurrent streptococcal infections, Recurrent staphylococcal infections OMIM:607676
Pseudohypoaldosteronism Type 2
Periodic paralysis ORPHA:757
Woodhouse-Sakati Syndrome
Decreased testicular size, Abnormality of extrapyramidal motor function, Hypogonadotropic hypogon... OMIM:241080
Chédiak-Higashi Syndrome
Recurrent streptococcal infections, Spastic paraplegia, Recurrent respiratory infections, Tremor,... ORPHA:167
Lumbar Syndrome
Bifid scrotum, Cryptorchidism, Hypoplastic labia majora, Ambiguous genitalia, Micropenis, Bifid u... ORPHA:83628
Amyloidosis Of Gingiva And Conjunctiva With Impaired Intellectual Development
Amyloidosis OMIM:204850
Pontocerebellar Hypoplasia Type 7
Clitoral hypertrophy, Spasticity, Involuntary movements, Microphallus, Gonadal dysgenesis, Fascic... ORPHA:284339
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Clitoral hypertrophy, Long penis, Precocious puberty in females, Abnormality of the menstrual cyc... ORPHA:90794
Cerebral Amyloid Angiopathy, Cst3-Related
Generalized amyloid deposition OMIM:105150
Poliomyelitis
Fasciculations, Infectious encephalitis, Hyperkinetic movements, Paralysis, Paraparesis, Meningitis ORPHA:2912
Immunodeficiency 113 With Autoimmunity And Autoinflammation
Spasticity, Recurrent viral infections, Recurrent fungal infections, Recurrent bacterial infectio... OMIM:620565
Amyotrophic Lateral Sclerosis
Babinski sign, Spasticity, Paralysis, Fasciculations ORPHA:803
Hyperkalemic Periodic Paralysis
Periodic hyperkalemic paralysis OMIM:170500
Ectodermal Dysplasia And Immunodeficiency 1
Molluscum contagiosum, Severe cytomegalovirus infection, Aplasia of the eccrine sweat glands, Rec... OMIM:300291
Granulomatous Disease, Chronic, X-Linked
Recurrent Klebsiella infections, Recurrent pneumonia, Recurrent Burkholderia cepacia infections, ... OMIM:306400
Agammaglobulinemia 9, Autosomal Recessive
Recurrent bacterial infections OMIM:619693
Woodhouse-Sakati Syndrome
Hypogonadism, Decreased testicular size, Decreased response to growth hormone stimulation test, S... ORPHA:3464
Pseudohypoaldosteronism, Type Iia
Periodic hyperkalemic paralysis OMIM:145260
Hemolytic Anemia, Cd59-Mediated, With Or Without Immune-Mediated Polyneuropathy
Paralysis OMIM:612300
Vici Syndrome
Recurrent viral infections, Chronic mucocutaneous candidiasis, Penile hypospadias, Recurrent fung... OMIM:242840
Hermansky-Pudlak Syndrome 2
Recurrent pneumonia, Recurrent otitis media, Recurrent abscess formation, Recurrent bacterial inf... OMIM:608233
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Recurrent pneumonia, Recurrent viral infections, Chronic mucocutaneous candidiasis, Aplasia of th... OMIM:102700
Periodic Fever, Familial, Autosomal Dominant
Pleuritis, AA amyloidosis, Hepatic amyloidosis OMIM:142680
Aa Amyloidosis
Renal amyloidosis, Amyloidosis ORPHA:85445
Chediak-Higashi Syndrome
Tremor, Recurrent systemic pyogenic infections, Ataxia, Recurrent infections, Recurrent bacterial... OMIM:214500
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Irregular menstruation, Recurrent bacterial infections, Menorrhagia, Polycystic ovaries ORPHA:79259
Chromomycosis
Recurrent bacterial infections ORPHA:182
Hyperkalemic Periodic Paralysis
Periodic hyperkalemic paralysis, Hypertonia, Cerebral palsy, Fasciculations ORPHA:682
Inhalational Botulism
Paralysis ORPHA:254504
Rift Valley Fever
Severe viral infection, Hemiparesis, Infectious encephalitis, Paralysis, Paraparesis, Decerebrate... ORPHA:319251
Palmoplantar Carcinoma, Multiple Self-Healing
Amyloidosis, Cutaneous macular amyloidosis OMIM:615225
Renal Tubular Acidosis Iii
Periodic paralysis OMIM:267200
Tick-Borne Encephalitis
Tongue fasciculations, Unusual CNS infection, Incoordination, Speech apraxia, Tremor, Hyperkineti... ORPHA:297
Porphyria, Acute Intermittent
Respiratory paralysis, Paralysis OMIM:176000
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Clitoral hypertrophy, Long penis, Precocious puberty in males, Congenital adrenal hyperplasia, De... OMIM:202010
Paramyotonia Congenita Of Von Eulenburg
Periodic hypokalemic paresis ORPHA:684
Leukocyte Adhesion Deficiency
Sepsis, Recurrent tonsillitis, Recurrent urinary tract infections, Vaginitis, BCGosis, Recurrent ... ORPHA:2968
Andersen-Tawil Syndrome
Periodic hyperkalemic paralysis, Periodic paralysis, Periodic hypokalemic paresis ORPHA:37553
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Elevated circulating luteinizing hormone level, Female infertility, Lacrimal gland hypoplasia, St... ORPHA:572333
Familial Mediterranean Fever
Renal amyloidosis, Pleural effusion, Amyloidosis, Elevated circulating amyloid A concentration, E... OMIM:249100
Idiopathic Trachyonychia
Amyloidosis ORPHA:79153
Encephalocraniocutaneous Lipomatosis
Spasticity, Hemiplegia, Rigidity, Hemiparesis, Paralysis, Tetraplegia, Hypertonia ORPHA:2396
Thyrotoxic Periodic Paralysis
Periodic hypokalemic paresis, Tremor, Respiratory paralysis, Paralysis, Tetraplegia ORPHA:79102
Exstrophy-Epispadias Complex
Penoscrotal transposition, Male sexual dysfunction, Bifid scrotum, Female sexual dysfunction, Cys... ORPHA:322
Oeis Complex
Ambiguous genitalia, female, Absent scrotum, Cryptorchidism, Ambiguous genitalia, male, Bifid ute... OMIM:258040
Q Fever
Pneumonia, Pleural effusion, Amyloidosis, Increased circulating antibody level, Abnormal pulmonar... ORPHA:781
Limb-Mammary Syndrome
Absent nipple, Breast aplasia, Aplasia of the ovary, Aplasia of the uterus, Hypoplastic nipples, ... ORPHA:69085
Immunodeficiency 87 And Autoimmunity
Recurrent viral infections, Sepsis, Severe cytomegalovirus infection, Recurrent fungal infections... OMIM:619573
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Recurrent bacterial infections OMIM:615895
Townes-Brocks Syndrome 2
Bifid uterus, Rectovaginal fistula, Hypospadias OMIM:617466
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Spastic paraplegia, Cholelithiasis, Azoospermia, Limb ataxia, Paralysis, Oculomotor apraxia, Hype... ORPHA:2072
Shwachman-Diamond Syndrome
Recurrent viral infections, Sepsis, Pancreatic hypoplasia, Decreased response to growth hormone s... ORPHA:811
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Parathyroid hypoplasia, Uterus didelphys, Septate vagina, Hypoparathyroidism, Aplasia of the uter... ORPHA:2237
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Tetraparesis, Myoclonus, Paralysis, Hypertonia, Ataxia, Bile duct proliferation OMIM:203700
Acys Amyloidosis
Amyloidosis, Cerebral amyloid angiopathy ORPHA:100008
Immunodeficiency 47
Recurrent bacterial infections, Recurrent infections OMIM:300972
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked
Cutaneous amyloidosis, Recurrent pneumonia, Bronchiectasis OMIM:301220
Glycogen Storage Disease Ib
Recurrent bacterial infections, Pancreatic fibrosis OMIM:232220
Chromosome 17Q12 Deletion Syndrome
Recurrent urinary tract infections, Cryptorchidism, Ovarian cyst, Aplasia of the vagina, Aplasia ... OMIM:614527
Andersen Cardiodysrhythmic Periodic Paralysis
Periodic paralysis, Periodic hypokalemic paresis OMIM:170390
African Trypanosomiasis
Involuntary movements, Fasciculations, Abnormality of the menstrual cycle, Abnormal central motor... ORPHA:3385
Lethal Omphalocele-Cleft Palate Syndrome
Bifid uterus ORPHA:2736
Meckel Syndrome 14
Aplasia of the uterus, Ambiguous genitalia OMIM:619879
Gitelman Syndrome
Paralysis, Ataxia OMIM:263800
Alzheimer Disease 4
Neurofibrillary tangles, Cerebral amyloid angiopathy OMIM:606889
Thrombocytopenia-Absent Radius Syndrome
Aplasia of the uterus ORPHA:3320
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Aplasia of the uterus, Absent external genitalia, Aplasia of the vagina OMIM:271520
Systemic Mastocytosis With Associated Hematologic Neoplasm
Amyloidosis, Abnormal mast cell morphology ORPHA:98849
Igg4-Related Thyroid Disease
Euthyroid goiter, Goiter, Sialadenitis, Vocal cord paralysis, Pancreatic fibrosis, Nodular goiter... ORPHA:64744
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Recurrent bacterial infections, Recurrent infections, Cryptorchidism, Recurrent respiratory infec... ORPHA:2273
Phocomelia, Schinzel Type
Aplasia of the uterus, Hypoplasia of penis, Cryptorchidism ORPHA:2879
Cerebral Amyloid Angiopathy, Itm2B-Related, 2
Neurofibrillary tangles, Cerebral amyloid angiopathy OMIM:117300
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome
Abnormal reproductive system morphology, Bifid uterus, Supernumerary nipple ORPHA:1521
Atrial Septal Defect, Coronary Sinus Type
Recurrent bacterial infections ORPHA:99104
Cardiac-Urogenital Syndrome
Bifid scrotum, Cryptorchidism, Aplasia of the uterus, Ambiguous genitalia, Penoscrotal hypospadia... OMIM:618280
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections
Recurrent pneumonia, Recurrent upper respiratory tract infections, Chronic mucocutaneous candidia... OMIM:147060
Abeta Amyloidosis, Dutch Type
Cerebral amyloid angiopathy ORPHA:100006
Lysinuric Protein Intolerance
Recurrent bacterial infections, Decreased response to growth hormone stimulation test ORPHA:470
Atrial Septal Defect, Ostium Secundum Type
Recurrent bacterial infections ORPHA:99103
Fanconi Anemia, Complementation Group L
Micropenis, Aplasia of the uterus OMIM:614083
Distal Renal Tubular Acidosis
Paralysis ORPHA:18
Gitelman Syndrome
Paralysis, Neoplasm of the pancreas, Parathyroid adenoma ORPHA:358
Cerebral Amyloid Angiopathy, Itm2B-Related, 1
Cerebral amyloid angiopathy OMIM:176500
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Aplasia of the uterus, Aplasia of the vagina ORPHA:457284
Pineoblastoma
Pinealoma, Paralysis ORPHA:251909
Cerebral Amyloid Angiopathy, App-Related
Cerebral amyloid angiopathy OMIM:605714
Familial Mediterranean Fever
Pleuritis, Amyloidosis ORPHA:342
Norrie Disease
Uterine rupture, Cryptorchidism, Clonus, Hypertonia, Erectile dysfunction ORPHA:649
Coffin-Siris Syndrome 1
Clitoral hypertrophy, Gait ataxia, Cryptorchidism, Aplasia of the uterus, Recurrent respiratory i... OMIM:135900
Thrombocytopenia-Absent Radius Syndrome
Aplasia of the uterus, Pancreatic cysts OMIM:274000
Osteopetrosis, Autosomal Recessive 3
Periodic hypokalemic paresis OMIM:259730
Tyrosinemia, Type I
Periodic paralysis OMIM:276700
Ehlers-Danlos Syndrome, Vascular Type
Uterine rupture, Cystocele, Cryptorchidism, Uterine prolapse, Cervical insufficiency OMIM:130050
Wolf-Hirschhorn Syndrome
Precocious puberty, Aplasia of the uterus, Hypospadias, Cryptorchidism OMIM:194190
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Small scrotum, Cryptorchidism, Aplasia of the uterus, Anteriorly displaced genitalia, Hypoplastic... OMIM:276820
Alkaptonuria
Amyloidosis ORPHA:56
Hydrolethalus Syndrome 1
Bifid uterus, Adrenal gland dysgenesis, Hypospadias, Abnormal vagina morphology OMIM:236680
Townes-Brocks Syndrome 1
Bifid scrotum, Cryptorchidism, Rectoperineal fistula, Bifid uterus, Rectovaginal fistula, Hypospa... OMIM:107480
Neu-Laxova Syndrome 1
Bifid uterus, Cryptorchidism OMIM:256520
Okamoto Syndrome
Bifid uterus ORPHA:2729
Loeys-Dietz Syndrome
Uterine rupture ORPHA:60030
Pallister-Killian Syndrome
Small scrotum, Supernumerary nipple, Cryptorchidism, Aplasia of the uterus, Hypoplastic labia maj... OMIM:601803
Vascular Ehlers-Danlos Syndrome
Uterine rupture, Cystocele, Cryptorchidism, Uterine prolapse, Hypospadias ORPHA:286
Hereditary Sensory And Autonomic Neuropathy Type 4
Aplasia of the sweat glands, Recurrent Staphylococcus aureus infections ORPHA:642

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Nr1h2

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Nr1h2.

No publications found that use IMPC mice or data for Nr1h2.

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