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Gene: Elapor1 MGI:1923930

Gene Summary

Name:

endosome-lysosome associated apoptosis and autophagy regulator 1

Synonyms:

Iir, Inceptor, 5330417C22Rik

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
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.

Phenotype	Allele	Zyg	Life Stage	P Value
preweaning lethality, incomplete penetrance	Elapor1^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	0.00
decreased exploration in new environment	Elapor1^{tm1b(EUCOMM)Hmgu}	HET	Early adult	2.86×10^-23
short tibia	Elapor1^{tm1b(EUCOMM)Hmgu}	HET	Early adult	2.68×10^-07
increased fluid intake	Elapor1^{tm1b(EUCOMM)Hmgu}	HET	Early adult	2.12×10^-05
abnormal retina blood vessel morphology	Elapor1^{tm1b(EUCOMM)Hmgu}	HET	Early adult	4.44×10^-06
abnormal retina vasculature morphology	Elapor1^{tm1b(EUCOMM)Hmgu}	HET	Early adult	5.57×10^-06
abnormal vitreous body morphology	Elapor1^{tm1b(EUCOMM)Hmgu}	HET	Early adult	7.03×10^-06
decreased lymphocyte cell number	Elapor1^{tm1b(EUCOMM)Hmgu}	HET	Early adult	7.96×10^-05
increased circulating glucose level	Elapor1^{tm1b(EUCOMM)Hmgu}	HET	Early adult	4.78×10^-05

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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.

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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X-ray

XRay Images Whole Body Dorso Ventral

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Immunophenotyping

Panel B FCS file(s)

4 Images

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Immunophenotyping

Panel A FCS file(s)

4 Images

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Human diseases caused by Elapor1 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.

Human diseases associated with Elapor1 (0 diseases)
Human diseases predicted to be associated with Elapor1 (467 diseases)

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

The table below shows human diseases predicted to be associated to Elapor1 by phenotypic similarity.

Disease	Matching phenotypes	Source
Spermatogenic Failure 35	Absent sperm axoneme central pair complex, Short sperm flagella, Absent sperm flagella, Male infe...	OMIM:618341
Spermatogenic Failure 20	Absent sperm flagella, Short sperm flagella, Male infertility, Coiled sperm flagella	OMIM:617593
Spermatogenic Failure, X-Linked, 3	Reduced sperm motility, Irregularly shaped sperm tail, Short sperm flagella, Oligozoospermia, Abs...	OMIM:301059
Spermatogenic Failure 36	Abnormal sperm morphology, Male infertility	OMIM:618420
Spermatogenic Failure 1	Cryptozoospermia, Male infertility, Oligozoospermia	OMIM:258150
Spermatogenic Failure 40	Immotile sperm, Short sperm flagella, Absent sperm flagella, Oligozoospermia, Male infertility, C...	OMIM:618664
Spermatogenic Failure 80	Reduced progressive sperm motility, Short sperm flagella, Absent sperm flagella, Oligozoospermia,...	OMIM:620222
Spermatogenic Failure 76	Irregularly shaped sperm tail, Short sperm flagella, Oligozoospermia, Reduced sperm motility, Abs...	OMIM:620084
Spermatogenic Failure 47	Immotile sperm, Short sperm flagella, Absent sperm flagella, Oligozoospermia, Male infertility	OMIM:619102
Spermatogenic Failure 11	Male infertility, Abnormal sperm morphology, Oligozoospermia, Reduced sperm motility	OMIM:615081
Spermatogenic Failure 10	Abnormal sperm morphology, Reduced sperm motility, Male infertility, Oligozoospermia	OMIM:614822
Spermatogenic Failure 54	Abnormal sperm axoneme morphology, Cryptozoospermia, Tapered sperm head, Short sperm flagella, Ol...	OMIM:619379
Spermatogenic Failure 48	Spermatogenesis maturation arrest, Azoospermia, Oligozoospermia, Male infertility	OMIM:619108
Spermatogenic Failure 65	Irregularly shaped sperm tail, Reduced progressive sperm motility, Abnormal sperm mid-piece morph...	OMIM:619712
Spermatogenic Failure 84	Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Bent spe...	OMIM:620409
Spermatogenic Failure 79	Reduced sperm motility, Coiled sperm flagella, Male infertility, Oligozoospermia	OMIM:620196
Spermatogenic Failure 39	Tapered sperm head, Short sperm flagella, Oligozoospermia, Reduced sperm motility, Absent sperm f...	OMIM:618643
Spermatogenic Failure 56	Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Absent s...	OMIM:619515
Spermatogenic Failure 41	Tapered sperm head, Immotile sperm, Short sperm flagella, Oligozoospermia, Male infertility	OMIM:618670
Male Infertility Due To Acephalic Spermatozoa	Acephalic spermatozoa, Abnormal sperm mid-piece morphology, Oligozoospermia, Reduced sperm motili...	ORPHA:529970
Spermatogenic Failure 72	Absent sperm axoneme central pair complex, Irregularly shaped sperm tail, Reduced progressive spe...	OMIM:619867
Spermatogenic Failure 34	Absent sperm axoneme central pair complex, Irregularly shaped sperm tail, Short sperm flagella, A...	OMIM:618153
Spermatogenic Failure 58	Irregularly shaped sperm tail, Reduced progressive sperm motility, Immotile sperm, Short sperm fl...	OMIM:619585
Spermatogenic Failure 37	Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit...	OMIM:618429
Spermatogenic Failure 18	Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit...	OMIM:617576
Spermatogenic Failure 33	Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit...	OMIM:618152
Spermatogenic Failure 46	Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit...	OMIM:619095
Spermatogenic Failure 27	Absent sperm axoneme central pair complex, Short sperm flagella, Absent sperm flagella, Reduced s...	OMIM:617965
Spermatogenic Failure 51	Absent sperm axoneme central pair complex, Irregularly shaped sperm tail, Microcephalic sperm hea...	OMIM:619177
Spermatogenic Failure 25	Cryptozoospermia, Non-obstructive azoospermia, Decreased testicular size, Spermatocyte maturation...	OMIM:617960
Spermatogenic Failure 43	Absent sperm axoneme central pair complex, Absent sperm flagella, Reduced sperm motility, Male in...	OMIM:618751
Spermatogenic Failure 19	Short sperm flagella, Absent sperm flagella, Reduced sperm motility, Male infertility, Coiled spe...	OMIM:617592
Spermatogenic Failure 82	Reduced progressive sperm motility, Short sperm flagella, Absent sperm flagella, Male infertility...	OMIM:620353
Spermatogenic Failure 49	Short sperm flagella, Absent sperm flagella, Reduced sperm motility, Male infertility, Coiled spe...	OMIM:619144
Spermatogenic Failure 45	Short sperm flagella, Absent sperm flagella, Reduced sperm motility, Male infertility, Coiled spe...	OMIM:619094
Spermatogenic Failure 22	Cryptozoospermia, Non-obstructive azoospermia, Male infertility	OMIM:617706
Spermatogenic Failure 64	Abnormal sperm head morphology, Reduced progressive sperm motility, Male infertility, Oligozoospe...	OMIM:619696
Partial Chromosome Y Deletion	Decreased testicular size, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal...	ORPHA:1646
Spermatogenic Failure, X-Linked, 5	Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Absent s...	OMIM:301099
Spermatogenic Failure 78	Microcephalic sperm head, Tapered sperm head, Male infertility	OMIM:620170
Spermatogenic Failure 30	Cryptozoospermia, Azoospermia, Cryptorchidism, Spermatogenesis maturation arrest, Male infertility	OMIM:618110
Spermatogenic Failure 63	Decreased testicular size, Reduced progressive sperm motility, Male infertility, Oligozoospermia	OMIM:619689
Spermatogenic Failure 7	Immotile sperm, Reduced sperm motility, Male infertility, Oligozoospermia	OMIM:612997
Spermatogenic Failure 5	Multiflagellar spermatozoa, Macrozoospermia, Male infertility	OMIM:243060
Spermatogenic Failure 86	Acephalic spermatozoa, Acrosomal hypoplasia, Abnormal sperm head morphology, Ruffled acrosome, Ma...	OMIM:620499
Spermatogenic Failure 70	Azoospermia, Reduced sperm motility, Male infertility, Oligozoospermia	OMIM:619828
Spermatogenic Failure 42	Microcephalic sperm head, Tapered sperm head, Short sperm flagella, Absent sperm flagella, Reduce...	OMIM:618745
Spermatogenic Failure 87	Ruffled acrosome, Male infertility	OMIM:620500
Spermatogenic Failure 31	Acephalic spermatozoa, Male infertility	OMIM:618112
Spermatogenic Failure 53	Tapered sperm head, Male infertility	OMIM:619258
Spermatogenic Failure 26	Acephalic spermatozoa, Male infertility	OMIM:617961
Spermatogenic Failure 62	Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest	OMIM:619673
Spermatogenic Failure 61	Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest	OMIM:619672
Spermatogenic Failure 88	Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest	OMIM:620547
Spermatogenic Failure 73	Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility	OMIM:619878
Spermatogenic Failure 59	Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility	OMIM:619645
Spermatogenic Failure 60	Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility	OMIM:619646
Spermatogenic Failure 74	Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility	OMIM:619937
Spermatogenic Failure 83	Altered location of the longitudinal column in the fibrous sheath, Reduced progressive sperm moti...	OMIM:620354
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm	Abnormal sperm morphology, Immotile sperm, Male infertility	OMIM:608653
Spermatogenic Failure 8	Cryptozoospermia, Azoospermia, Oligozoospermia	OMIM:613957
Spermatogenic Failure 16	Acephalic spermatozoa, Male infertility, Reduced sperm motility	OMIM:617187
Spermatogenic Failure 21	Acephalic spermatozoa, Male infertility, Reduced sperm motility	OMIM:617644
Spermatogenic Failure 57	Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility, Decreased testi...	OMIM:619528
Spermatogenic Failure 50	Spermatogenesis maturation arrest, Decreased testicular size, Azoospermia, Male infertility	OMIM:619145
Spermatogenic Failure 24	Microcephalic sperm head, Tapered sperm head, Short sperm flagella, Reduced sperm motility, Coile...	OMIM:617959
Spermatogenic Failure 17	Male infertility	OMIM:617214
Spermatogenic Failure 32	Sertoli cell-only phenotype, Non-obstructive azoospermia, Male infertility	OMIM:618115
Spermatogenic Failure 71	Sertoli cell-only phenotype, Non-obstructive azoospermia, Male infertility	OMIM:619831
Spermatogenic Failure 81	Acrosomal hypoplasia, Reduced progressive sperm motility, Oligozoospermia, Male infertility	OMIM:620277
Deafness-Infertility Syndrome	Reduced sperm motility, Abnormal sperm head morphology, Abnormal spermatogenesis, Male infertilit...	OMIM:611102
Spermatogenic Failure 52	Azoospermia, Male infertility	OMIM:619202
Spermatogenic Failure, Y-Linked, 2	Azoospermia, Male infertility	OMIM:415000
Spermatogenic Failure 4	Azoospermia, Male infertility	OMIM:270960
Spermatogenic Failure 23	Azoospermia, Male infertility	OMIM:617707
Spermatogenic Failure 29	Non-obstructive azoospermia, Immotile sperm, Male infertility	OMIM:618091
Spermatogenic Failure 38	Abnormal axonemal organization of respiratory motile cilia, Tapered sperm head, Abnormal sperm he...	OMIM:618433
Spermatogenic Failure 12	Infertility, Azoospermia, Abnormal male germ cell morphology	OMIM:615413
Spermatogenic Failure, X-Linked, 6	Absent sperm axoneme central pair complex, Abnormal male external genitalia morphology, Microceph...	OMIM:301101
Spermatogenic Failure, X-Linked, 7	Excess residual spermatozoal cytoplasm, Multiflagellar spermatozoa, Globozoospermia, Reduced sper...	OMIM:301106
Spermatogenic Failure 3	Male infertility, Reduced sperm motility	OMIM:606766
Spermatogenic Failure, Y-Linked, 1	Male infertility, Reduced sperm motility	OMIM:400042
Spermatogenic Failure 55	Male infertility, Reduced sperm motility	OMIM:619380
Deafness-Infertility Syndrome	Azoospermia, Male infertility	ORPHA:94064
Spermatogenic Failure 85	Acephalic spermatozoa, Reduced progressive sperm motility, Globozoospermia, Male infertility, Coi...	OMIM:620490
Spermatogenic Failure 6	Decreased acrosin in sperm head, Globozoospermia, Male infertility	OMIM:102530
Isochromosomy Yp	Decreased testicular size, Azoospermia, Ambiguous genitalia, Male infertility	ORPHA:98797
Male Infertility With Teratozoospermia Due To Single Gene Mutation	Decreased testicular size, Non-obstructive azoospermia, Globozoospermia, Abnormal spermatogenesis...	ORPHA:399808
Spermatogenic Failure, X-Linked, 2	Spermatogenesis maturation arrest, Azoospermia, Testicular atrophy, Male infertility	OMIM:309120
Deleted in azoospermia	Azoospermia	OMIM:400003
Spermatogenic Failure 44	Decreased testicular size, Acephalic spermatozoa, Male infertility, Reduced sperm motility	OMIM:619044
Spermatogenic Failure 66	Globozoospermia, Male infertility	OMIM:619799
Spermatogenic Failure 9	Globozoospermia, Male infertility	OMIM:613958
Spermatogenic Failure 67	Globozoospermia, Male infertility	OMIM:619803
Spermatogenic Failure 68	Globozoospermia, Male infertility	OMIM:619805
Spermatogenic Failure 69	Globozoospermia, Male infertility	OMIM:619826
Isochromosomy Yq	Varicocele, Decreased testicular size, Azoospermia, Gonadal tissue inappropriate for external gen...	ORPHA:98798
Spermatogenic Failure 75	Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest	OMIM:619949
Ciliary Dyskinesia, Primary, 50	Reduced progressive sperm motility, Short sperm flagella, Absent inner dynein arms, Reduced sperm...	OMIM:620356
Spermatogenic Failure 2	Non-obstructive azoospermia, Azoospermia, Male infertility, Oligozoospermia	OMIM:108420
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation	Obstructive azoospermia, Non-obstructive azoospermia, Decreased testicular size, Azoospermia, Abn...	ORPHA:399805
Spermatogenic Failure 77	Azoospermia, Multiflagellar spermatozoa, Cryptorchidism, Oligozoospermia, Male infertility	OMIM:620103
Congenital Bilateral Absence Of Vas Deferens	Obstructive azoospermia, Absent vas deferens, Oligozoospermia, Male infertility	ORPHA:48
Ciliary Dyskinesia, Primary, 51	Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Oligozoo...	OMIM:620438
Young Syndrome	Obstructive azoospermia, Decreased fertility	ORPHA:3471
Azoospermia, Obstructive, With Nephrolithiasis	Obstructive azoospermia, Male infertility, Spermatocele	OMIM:301060
Persistent Mullerian Duct Syndrome, Types I And Ii	Male infertility, Bilateral cryptorchidism	OMIM:261550
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly	Male hypogonadism, Azoospermia	OMIM:241000
Spermatogenic Failure 15	Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility	OMIM:616950
Familial Peripheral Male-Limited Precocious Puberty	Precocious puberty, Long penis, Oligozoospermia, Macroorchidism, Male infertility	ORPHA:3000
Bardet-Biedl Syndrome 9	Postaxial foot polydactyly, Polydipsia, Hyperglycemia, Attenuation of retinal blood vessels, Reti...	OMIM:615986
Syndactyly Type 4	Toe syndactyly, Short tibia, Camptodactyly of finger, Hand polydactyly, Triphalangeal thumb, Foot...	ORPHA:93405
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked	Azoospermia, Absent vas deferens, Male infertility	OMIM:300985
Vas Deferens, Congenital Bilateral Aplasia Of	Azoospermia, Absent vas deferens, Male infertility	OMIM:277180
Acromesomelic Dysplasia 2A	Acromesomelia, Short tibia, Aplasia/Hypoplasia involving the metacarpal bones, Distal tibiofibula...	OMIM:200700
Acromesomelic Dysplasia 2C	Shortening of all middle phalanges of the fingers, Hip dislocation, Short tibia, Radial bowing, S...	OMIM:201250
Spinocerebellar Ataxia Type 32	Testicular atrophy, Azoospermia, Male infertility	ORPHA:276183
Chondrodysplasia Punctata, Tibia-Metacarpal Type	Short 3rd metacarpal, Short tibia, Micromelia, Epiphyseal stippling, Short 4th metacarpal, Limb u...	OMIM:118651
Osebold-Remondini Syndrome	Mesomelia, Short tibia, Short toe, Type A brachydactyly, Radial deviation of finger, Carpal synos...	OMIM:112910
Ring Chromosome Y Syndrome	Male hypogonadism, Female infertility, Abnormality of the male genitalia, Bifid scrotum, Gonadal ...	ORPHA:261529
Acromesomelic Dysplasia, Grebe Type	Synostosis of carpal bones, Short tibia, Micromelia, Short toe, Aplasia of the middle phalanges o...	ORPHA:2098
Langer Mesomelic Dysplasia	Short tibia, Radial bowing, Rudimentary fibula, Rhizomelic arm shortening, Micrognathia, Broad ul...	OMIM:249700
Bardet-Biedl Syndrome 17	Postaxial foot polydactyly, Polydipsia, Short fourth metatarsal, Mesoaxial hand polydactyly, Cone...	OMIM:615994
Spinocerebellar Ataxia 32	Testicular atrophy, Infertility, Azoospermia	OMIM:613909
Leri-Weill Dyschondrosteosis	Abnormal femoral neck morphology, Short tibia, Radial bowing, Short toe, Abnormal metatarsal morp...	OMIM:127300
Morbid Obesity And Spermatogenic Failure	Infertility, Azoospermia, Oligozoospermia	OMIM:615703
Fibular Hemimelia	Toe syndactyly, Structural foot deformity, Finger syndactyly, Short tibia, Limited knee flexion/e...	ORPHA:93323
Type 1 Diabetes Mellitus	Hyperglycemia, Polydipsia, Diabetes mellitus, Polyphagia	OMIM:222100
Spermatogenic Failure 28	Decreased testicular size, Non-obstructive azoospermia, Male infertility	OMIM:618086
Léri-Weill Dyschondrosteosis	Short tibia, Radial bowing, Abnormal tibia morphology, Genu valgum, Patellar aplasia, Diaphyseal ...	ORPHA:240
Isolated Follicle Stimulating Hormone Deficiency	Male hypogonadism, Decreased testicular size, Delayed menarche, Azoospermia, Decreased female lib...	ORPHA:52901
Kleine-Levin Syndrome	Transient global amnesia, Depression, Polydipsia, Confusion, Abnormal eating behavior, Irritabili...	ORPHA:33543
Spermatogenic Failure 14	Azoospermia, Male infertility, Round spermatid arrest	OMIM:615842
Acheiropody	Lower limb peromelia, Short tibia, Absent radius, Fibular aplasia, Absent hand, Carpal bone aplas...	OMIM:200500
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome	Finger aplasia, Short tibia, Foot oligodactyly, Fibular aplasia, Tibial bowing, Syndactyly	OMIM:246570
Lethal Faciocardiomelic Dysplasia	Short 5th finger, Microretrognathia, Short tibia, Short thumb, Sandal gap, Radial club hand, Fibu...	ORPHA:1972
Young Syndrome	Azoospermia	OMIM:279000
Acrocapitofemoral Dysplasia	Short tibia, Radial bowing, Hypoplastic iliac wing, Dysplasia of the femoral head, Cone-shaped ep...	OMIM:607778
Mesomelic Dysplasia, Savarirayan Type	Short forearm, Short tibia, Abnormal foot morphology, Talipes equinovalgus, Mesomelic leg shorten...	OMIM:605274
Nephronophthisis 9	Anemia, Polydipsia, Retinal degeneration	OMIM:613824
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus	Short sperm flagella, Male infertility, Coiled sperm flagella	OMIM:620197
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly	Short tibia, Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication	OMIM:188740
Senior-Loken Syndrome 4	Anemia, Polydipsia, Rod-cone dystrophy	OMIM:606996
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive	Optic disc pallor, Hyperglycemia, Retinal thinning	OMIM:618970
Spermatogenic Failure 13	Azoospermia, Male infertility	OMIM:615841
Central Retinal Vein Occlusion	Pigmentary retinopathy, Macular degeneration, Macular edema, Retinal vascular tortuosity, Epireti...	ORPHA:411527
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development	Aplasia/Hypoplasia of the radius, Absent thumb, Short tibia, Fibular hypoplasia, Hypoplasia of th...	OMIM:612447
Spermatogenic Failure, X-Linked, 4	Azoospermia, Male infertility	OMIM:301077
Maturity-Onset Diabetes Of The Young, Type 10	Hyperglycemia, Diabetes mellitus, Maturity-onset diabetes of the young, Diabetic ketoacidosis	OMIM:613370
Endove Syndrome, Limb-Only Type	Cutaneous syndactyly of toes, Aplasia of the distal phalanges of the toes, Short middle phalanx o...	OMIM:619217
Orofaciodigital Syndrome Type 10	Polysyndactyly of hallux, Radial deviation of the hand, Short tibia, Short toe, Preaxial polydact...	ORPHA:2756
Gollop-Wolfgang Complex	Aplasia/Hypoplasia of the tibia, Bifid femur, Ectrodactyly, Aplasia/Hypoplasia of the ulna, Hand ...	ORPHA:1986
Exudative Vitreoretinopathy 2, X-Linked	Exudative vitreoretinopathy, Peripheral retinal avascularization, Retinal vascular tortuosity, Su...	OMIM:305390
Maturity-Onset Diabetes Of The Young, Type 3	Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young	OMIM:600496
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia	Hypogonadism, Decreased testicular size, Azoospermia, Primary amenorrhea, Infertility	OMIM:229070
Renal Glucosuria	Polyphagia, Polydipsia, Glycosuria	OMIM:233100
Androgen Insensitivity, Partial	Absent vas deferens, Perineal hypospadias, Bifid scrotum, Hypogonadism, Azoospermia, Cryptorchidi...	OMIM:312300
Hereditary Central Diabetes Insipidus	Polydipsia, Irritability	ORPHA:30925
Diabetes And Deafness, Maternally Inherited	Hyperglycemia, Pigmentary retinopathy, Type II diabetes mellitus, Retinal degeneration	OMIM:520000
Familial Exudative Vitreoretinopathy	Macular edema, Vitreoretinopathy, Subretinal fluid, Epiretinal membrane, Tractional retinal detac...	ORPHA:891
Immunodeficiency 24	Lymphopenia, Decreased proportion of memory B cells, Reduced proportion of mucosal-associated inv...	OMIM:615897
Exudative Vitreoretinopathy 1	Retinal exudate, Exudative vitreoretinopathy, Ectopic fovea, Posterior vitreous detachment, Vitre...	OMIM:133780
Orofaciodigital Syndrome Viii	Syndactyly, Short tibia, Polydactyly	OMIM:300484
Vitreoretinopathy, Neovascular Inflammatory	Posterior retinal neovascularization, Vitreoretinopathy, Peripheral retinal neovascularization, V...	OMIM:193235
Laurin-Sandrow Syndrome	Patellar aplasia, Broad foot, Hand polydactyly, Triphalangeal thumb, Absent tibia, Absent radius,...	OMIM:135750
Tibial Hemimelia	Aplasia of the 2nd metacarpal, Short tibia, Radial club hand, Cutaneous finger syndactyly, Talipe...	ORPHA:93322
Orofaciodigital Syndrome Ix	Toe syndactyly, Short tibia, Retinal coloboma, Hand polydactyly, Camptodactyly	OMIM:258865
Chromosome 17P13.3, Telomeric, Duplication Syndrome	3-4 finger syndactyly, Short tibia, Short toe, Absent hallux, Oligodactyly, Ectrodactyly, Contrac...	OMIM:612576
Ciliary Dyskinesia, Primary, 45	Male infertility, Absent inner and outer dynein arms	OMIM:618801
Congenital Disorder Of Glycosylation, Type Ig	Rhizomelia, Short tibia, Hypoglycemia, Sandal gap, Short humerus, Short ribs, Talipes equinovarus...	OMIM:607143
Immunodeficiency 8 With Lymphoproliferation	Lymphopenia, Attention deficit hyperactivity disorder	OMIM:615401
Macular Dystrophy, Retinal, 3	Retinal pigment epithelial atrophy, Hyperautofluorescent macular lesion, Retinal neovascularizati...	OMIM:608850
Acrofacial Dysostosis Syndrome Of Rodriguez	Short tibia, Clinodactyly, Oligodactyly, Overlapping toe, Micrognathia, 11 pairs of ribs, Fibular...	OMIM:201170
Glycogen Storage Disease 0, Liver	Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia	OMIM:240600
Autosomal Recessive Spastic Paraplegia Type 46	Decreased testicular size, Infertility, Abnormal sperm head morphology, Reduced sperm motility, A...	ORPHA:320391
Premature Ovarian Failure 10	Decreased testicular size, Azoospermia, Hypoplasia of the ovary, Primary amenorrhea, Premature ov...	OMIM:612885
Central Diabetes Insipidus	Depression, Polydipsia, Anorexia	ORPHA:178029
Tibial Aplasia-Ectrodactyly Syndrome	Aplasia/Hypoplasia of the tibia, Finger syndactyly, Ectrodactyly, Preaxial hand polydactyly, Abno...	ORPHA:3329
Reese Retinal Dysplasia	Retinal dysplasia, Remnants of the hyaloid vascular system	OMIM:266400
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility	Male infertility	OMIM:618948
Brachydactyly, Type A1, C	Short distal phalanx of finger, Short 1st metacarpal, Short middle phalanx of the 2nd finger, Fib...	OMIM:615072
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly	Aplasia/Hypoplasia of fingers, Toe syndactyly, Finger syndactyly, Radial bowing, Clinodactyly, Hy...	OMIM:228930
Microphthalmia With Limb Anomalies	Toe syndactyly, Postaxial foot polydactyly, Short tibia, Synostosis of carpal bones, Finger synda...	ORPHA:1106
Ciliary Dyskinesia, Primary, 36, X-Linked	Male infertility	OMIM:300991
Orofaciodigital Syndrome Iv	Toe syndactyly, Short tibia, Clinodactyly, Short finger, Micrognathia, Postaxial polydactyly, Han...	OMIM:258860
Stuve-Wiedemann Syndrome 1	Short tibia, Micrognathia, Metaphyseal rarefaction, Talipes, Bowing of the long bones, Hypoplasti...	OMIM:601559
47,Xyy Syndrome	Varicocele, Azoospermia, Cryptorchidism, Oligozoospermia, Micropenis, Macroorchidism, Hypospadias...	ORPHA:8
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Metaphyseal chondrodysplasia, Lymphopenia, Hypoplasia of the thymus	OMIM:200900
Ciliary Dyskinesia, Primary, 34	Immotile sperm, Male infertility, Absent central microtubular pair morphology of respiratory moti...	OMIM:617091
Spondyloepimetaphyseal Dysplasia, Missouri Type	Flared metaphysis, Small epiphyses, Femoral bowing, Tibial bowing, Knee osteoarthritis, Flattened...	ORPHA:93356
Eales Disease	Macular edema, Retinal thinning, Peripheral retinal neovascularization, Vitritis, Epiretinal memb...	ORPHA:40923
Hyperproinsulinemia	Hyperglycemia, Hyperinsulinemia	OMIM:616214
Split-Hand/Foot Malformation With Long Bone Deficiency 1	Patellar aplasia, Short hallux, Absent tibia, Split hand, Aplasia/Hypoplasia of the ulna, Aplasia...	OMIM:119100
Acromesomelic Dysplasia 2B	Deformed tarsal bones, Rhizomelia, Deviation of finger, Talipes equinovalgus, Fibular aplasia, Ma...	OMIM:228900
Blount Disease	Abnormality of the knee, Abnormality of the proximal tibial epiphysis, Abnormal tibial metaphysis...	ORPHA:2768
Adrenal Hypoplasia, Congenital	Precocious puberty, Azoospermia, Cryptorchidism, Hypogonadotropic hypogonadism, Oligozoospermia	OMIM:300200
Weismann-Netter Syndrome	Aplasia/Hypoplasia of the radius, Abnormal tibia morphology, Abnormal hip bone morphology, Abnorm...	ORPHA:3344
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia	Cryptorchidism, Oligozoospermia	OMIM:314300
Eiken Syndrome	Abnormal fingertip morphology, Epiphyseal dysplasia, Delayed epiphyseal ossification, High iliac ...	ORPHA:79106
Hemochromatosis, Type 2A	Hypogonadotropic hypogonadism, Azoospermia, Infertility, Amenorrhea	OMIM:602390
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome	Aplasia/Hypoplasia of the tibia, Synostosis of carpal bones, Patellar aplasia, Aplasia/Hypoplasia...	ORPHA:988
Slc35A2-Cdg	Aplasia/hypoplasia involving bones of the extremities, Short tibia, Camptodactyly of finger, Abno...	ORPHA:356961
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia	Male hypogonadism, Abnormality of the Leydig cells, Azoospermia, Ovarian cyst, Hypogonadotropic h...	OMIM:228300
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly	Bifid femur, Aplasia of the ulna, Absent tibia, Split hand, Hand monodactyly, Foot monodactyly	OMIM:228250
Diabetes Mellitus, Transient Neonatal, 1	Transient neonatal diabetes mellitus, Hyperglycemia	OMIM:601410
Robin Sequence With Cleft Mandible And Limb Anomalies	Short tibia, Micrognathia, Talipes equinovarus, Short hallux, Mesomelic arm shortening, Short met...	OMIM:268305
Microcephaly-Micromelia Syndrome	Absent thumb, Short tibia, Micromelia, Oligodactyly, Micrognathia, Humeroradial synostosis, Missi...	OMIM:251230
Hypogonadism, Male, With Impaired Intellectual Development And Skeletal Anomalies	Hyperglycemia, Glucose intolerance	OMIM:307500
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia	Decreased testicular size, Azoospermia, Cryptorchidism, Hypogonadotropic hypogonadism, Primary am...	OMIM:614837
Metaphyseal Dysplasia, Braun-Tinschert Type	Radial bowing, Sclerosis of middle finger phalanx, Broad long bones, Humerus varus, Fibular bowin...	ORPHA:85188
Nephronophthisis 11	Anemia, Polydipsia, Retinal degeneration	OMIM:613550
Functioning Gonadotropic Adenoma	Abnormality of the menstrual cycle, Decreased female libido, Ovarian cyst, Enlarged polycystic ov...	ORPHA:91348
Transient Neonatal Diabetes Mellitus	Maturity-onset diabetes of the young, Hyperglycemia, Transient neonatal diabetes mellitus, Matern...	ORPHA:99886
Cystinosis	Polydipsia, Type I diabetes mellitus, Motor stereotypy, Retinopathy	ORPHA:213
Mesomelic Dysplasia, Savarirayan Type	High iliac wing, Hypoplasia of proximal radius, Fibular aplasia, Glenoid fossa hypoplasia, Metata...	ORPHA:85170
Immunodeficiency 18	Reduced natural killer cell count, Lymphopenia, Abnormal B cell count, Decreased proportion of CD...	OMIM:615615
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2	Azoospermia, Bicornuate uterus, Aplasia/hypoplasia of the uterus	ORPHA:2578
Partial Androgen Insensitivity Syndrome	Clitoral hypertrophy, Male sexual dysfunction, Bifid scrotum, Bilateral cryptorchidism, Azoosperm...	ORPHA:90797
Immunodeficiency 50	Lymphopenia, Neutropenia	OMIM:300988
Immunodeficiency 52	Increased proportion of gamma-delta T cells, Lymphopenia, Abnormal B cell count, Decreased propor...	OMIM:617514
Pediatric-Onset Graves Disease	Polydipsia, Splenomegaly, Emotional lability, Irritability, Polyphagia, Hyperactivity, Thrombocyt...	ORPHA:525731
Laurin-Sandrow Syndrome	Toe syndactyly, Finger syndactyly, Mirror image polydactyly, Preaxial hand polydactyly, Limb dupl...	ORPHA:2378
46,Xx Sex Reversal 2	Small scrotum, Perineal hypospadias, Bifid scrotum, Non-obstructive azoospermia, Azoospermia, Tru...	OMIM:278850
Greig Cephalopolysyndactyly Syndrome	Broad thumb, Postaxial foot polydactyly, Y-shaped metatarsals, Broad hallux, Preaxial hand polyda...	OMIM:175700
Nephronophthisis-Like Nephropathy 2	Polydipsia	OMIM:619468
Vitreoretinochoroidopathy	Pigmentary retinopathy, Retinal arteriolar constriction, Abnormality of chorioretinal pigmentatio...	OMIM:193220
Femoral-Facial Syndrome	Aplasia/Hypoplasia of the tibia, Abnormal pelvic girdle bone morphology, Preaxial foot polydactyl...	ORPHA:1988
Immunodeficiency 105	Reduced natural killer cell count, Lymphopenia, Hepatosplenomegaly, Pancytopenia, Impaired lympho...	OMIM:619924
Multiple Epiphyseal Dysplasia, Lowry Type	Epiphyseal dysplasia, Delayed epiphyseal ossification, Rhizomelia, Small epiphyses, Micrognathia,...	ORPHA:166016
Bent Bone Dysplasia Syndrome 2	Hypoplastic acetabulae, Short 1st metacarpal, Short tibia, Hypoplastic iliac wing, Femoral bowing...	OMIM:620076
Atelosteogenesis Type Iii	Hand clenching, Absent humerus, Short tibia, Knee dislocation, Short tubular bones of the hand, F...	ORPHA:56305
Combined Oxidative Phosphorylation Deficiency 54	Memory impairment, Microretrognathia, Hyperglycemia, Optic disc pallor, Retrobulbar optic neuritis	OMIM:619737
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia	Hypogonadism, Decreased testicular size, Azoospermia, Cryptorchidism, Primary amenorrhea, Micropenis	OMIM:614897
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Broad thumb, Toe syndactyly, Shallow acetabular fossae, Hypoplastic iliac wing, Micrognathia, Tal...	OMIM:609945
Testicular Germ Cell Tumor	Azoospermia	OMIM:273300
Whipple Disease	Insulin resistance, Depression, Polydipsia, Splenomegaly, Anorexia, Anemia, Pedal edema	ORPHA:3452
Reticular Dysgenesis	Lymphopenia, Leukopenia, Congenital agranulocytosis, Hypoplasia of the thymus	OMIM:267500
Familial Cold Urticaria	Polydipsia	ORPHA:47045
Ciliary Dyskinesia, Primary, 18	Absent inner dynein arms, Immotile sperm, Absent outer dynein arms, Male infertility	OMIM:614874
Rabson-Mendenhall Syndrome	Postprandial hyperglycemia, Insulin resistance, Polydipsia, Insulin-resistant diabetes mellitus, ...	ORPHA:769
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations	Normocytic anemia, Macular edema, Memory impairment, Depression, Avascular necrosis of the capita...	ORPHA:247691
Septo-Optic Dysplasia Spectrum	Polydipsia, Septo-optic dysplasia, Maternal diabetes, Optic nerve hypoplasia	ORPHA:3157
Maturity-Onset Diabetes Of The Young, Type 13	Maturity-onset diabetes of the young, Hyperglycemia, Maternal diabetes, Elevated hemoglobin A1c, ...	OMIM:616329
Ciliary Dyskinesia, Primary, 40	Infertility, Azoospermia, Absent outer dynein arms	OMIM:618300
Orofaciodigital Syndrome Type 2	Polysyndactyly of hallux, Finger syndactyly, Short tibia, Complete duplication of hallux phalanx,...	ORPHA:2751
Mody	Glycosuria, Insulin-resistant diabetes mellitus, Hyperglycemia, Elevated hemoglobin A1c, Glucose ...	ORPHA:552
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis	Lymphopenia, Autoimmune hemolytic anemia, Plasmacytosis	OMIM:247800
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities	Postprandial hyperglycemia, Insulin-resistant diabetes mellitus, Hypoglycemia, Hyperglycemia, Hyp...	OMIM:262190
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Rhizomelia, Microretrognathia, Short tibia, Preaxial polydactyly, Hypoplastic pelvis, Fibular hyp...	OMIM:616300
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Cone-shaped epiphysis, Metaphyseal spurs, Preaxial polydactyly, Acetabular spurs, Femoral bowing,...	OMIM:613091
Diabetes Mellitus, Permanent Neonatal, 4	Elevated hemoglobin A1c, Hyperglycemia, Type I diabetes mellitus, Diabetic ketoacidosis	OMIM:618858
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome	Retinal dystrophy, Chorioretinal coloboma, Remnants of the hyaloid vascular system	ORPHA:231736
Ciliary Dyskinesia, Primary, 9	Absent outer dynein arms, Male infertility	OMIM:612444
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility	Male infertility	OMIM:619607
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type	Ulnar deviation of finger, Synostosis of carpal bones, Micromelia, Abnormal tibia morphology, Fib...	ORPHA:2634
Diabetes Insipidus, Nephrogenic, 2, Autosomal	Polydipsia, Irritability	OMIM:125800
Diabetes Insipidus, Nephrogenic, 1, X-Linked	Polydipsia, Irritability	OMIM:304800
46,Xx Sex Reversal 1	Clitoral hypertrophy, Azoospermia, True hermaphroditism, Ovotestis, Bicornuate uterus, Hypospadia...	OMIM:400045
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Lymphopenia, Splenomegaly, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Hemolytic an...	ORPHA:444463
Acheiropodia	Abnormal epiphysis morphology, Fibular aplasia, Absent hand, Short humerus, Upper limb phocomelia...	ORPHA:931
Diabetes Mellitus, Permanent Neonatal, 2	Hyperglycemia, Type I diabetes mellitus	OMIM:618856
Faciocardiomelic Dysplasia, Lethal	Short 5th finger, Radial deviation of the hand, Short thumb, Micrognathia, Fibular hypoplasia, Ta...	OMIM:227270
Senior-Loken Syndrome 1	Anemia, Polydipsia, Retinal dystrophy	OMIM:266900
Acromesomelic Dysplasia 3	Aplasia of the proximal phalanx of the 2nd finger, Widened proximal tibial metaphyses, Short 1st ...	OMIM:609441
46,Xy Partial Gonadal Dysgenesis	Clitoral hypertrophy, Abnormal vagina morphology, Abnormal labia morphology, Abnormal scrotum mor...	ORPHA:251510
Immunodeficiency 21	Reduced natural killer cell count, Aplastic anemia, Lymphopenia, Anemia, Neutropenia, B lymphocyt...	OMIM:614172
Ciliary Dyskinesia, Primary, 14	Abnormal axonemal organization of respiratory motile cilia, Immotile sperm, Absent inner dynein a...	OMIM:613807
Diabetes Mellitus, Transient Neonatal, 3	Transient neonatal diabetes mellitus, Hyperglycemia, Elevated hemoglobin A1c, Maternal diabetes	OMIM:610582
Lead Poisoning	Decreased male libido, Abnormality of the menstrual cycle, Decreased female libido, Abnormal sper...	ORPHA:330015
Apparent Mineralocorticoid Excess	Hypertensive retinopathy, Polydipsia	ORPHA:320
Wolfram Syndrome	Optic atrophy, Polydipsia, Anemia, Dementia, Diabetes mellitus	ORPHA:3463
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy	Cone/cone-rod dystrophy, Hypoplastic inferior ilia, Short metacarpal, Optic disc coloboma, Retina...	OMIM:608940
Systemic Lupus Erythematosus 17	Lymphopenia, Leukopenia, Optic neuritis, Thrombocytopenia, Autoimmune thrombocytopenia	OMIM:301080
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Mesomelia, Polysyndactyly of hallux, Postaxial polysyndactyly of foot, Preaxial hand polydactyly,...	OMIM:263520
Cernunnos-Xlf Deficiency	Lymphopenia, Thrombocytopenia, B lymphocytopenia, Anemia, T lymphocytopenia	ORPHA:169079
Diabetes Mellitus, Permanent Neonatal, 1	Hyperglycemia, Type I diabetes mellitus, Diabetes mellitus, Elevated hemoglobin A1c	OMIM:606176
Thrombocytopenia-Absent Radius Syndrome	Broad thumb, Finger syndactyly, Tibial torsion, Absent radius, Fibular aplasia, Micrognathia, Apl...	ORPHA:3320
Optic Nerve Hypoplasia, Bilateral	Optic nerve aplasia, Morning glory anomaly, Remnants of the hyaloid vascular system, Optic nerve ...	OMIM:165550
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Hypoplastic scapulae, Short tibia, Thumb contracture, Hypoplastic iliac wing, Hepatosplenomegaly,...	ORPHA:96334
Pituitary Dermoid And Epidermoid Cysts	Hypogonadism, Amenorrhea, Oligomenorrhea, Oligozoospermia	ORPHA:91351
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome	Lymphopenia, Irritability, 2-3 toe syndactyly, Aggressive behavior, Hyperactivity, Motor stereotypy	ORPHA:391307
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly	Patellar hypoplasia, Preaxial foot polydactyly, Mirror image foot polydactyly, Talipes equinovaru...	OMIM:119800
Immunodeficiency 76	Lymphopenia, T lymphocytopenia, Splenomegaly, B lymphocytopenia	OMIM:619164
Acquired Central Diabetes Insipidus	Polydipsia	ORPHA:95626
Acromelic Frontonasal Dysostosis	Optic nerve hypoplasia, Short tibia, Patellar hypoplasia, Preaxial hand polydactyly, Preaxial foo...	OMIM:603671
Spondyloepimetaphyseal Dysplasia, Missouri Type	Rhizomelia, Metaphyseal cupping, Radial bowing, Flared metaphysis, Small epiphyses, Femoral bowin...	OMIM:602111
Infantile Nephropathic Cystinosis	Glycosuria, Pigmentary retinopathy, Polydipsia, Cognitive impairment	ORPHA:411629
Neurodegeneration And Seizures Due To Copper Transport Defect	Talipes equinovarus, Short tibia, Short femur	OMIM:620306
Complete Androgen Insensitivity Syndrome	Abnormal morphology of female internal genitalia, Bilateral cryptorchidism, Aplasia of the uterus...	ORPHA:99429
Ochoa Syndrome	Polydipsia	ORPHA:2704
Immunodeficiency 13	Lymphopenia, Decreased CD4:CD8 ratio, Decreased proportion of CD4-positive helper T cells, B lymp...	OMIM:615518
Normosmic Congenital Hypogonadotropic Hypogonadism	Male hypogonadism, Non-obstructive azoospermia, Decreased testicular size, Azoospermia, Cryptorch...	ORPHA:432
Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia	Fibular aplasia, Brachydactyly, Short phalanx of finger, Aplasia/Hypoplasia of the fibula, Split ...	OMIM:113310
Omodysplasia 1	Rhizomelia, Short tibia, Limited knee flexion/extension, Micrognathia, Short humerus, Fibular hyp...	OMIM:258315
Generalized Glucocorticoid Resistance Syndrome	Precocious puberty, Female pseudohermaphroditism, Ambiguous genitalia, Oligomenorrhea, Oligozoosp...	ORPHA:786
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency	Postprandial hyperglycemia, Ketotic hypoglycemia, Glycosuria, Irritability	ORPHA:2089
Familial Hyperaldosteronism Type I	Polydipsia	ORPHA:403
Nephronophthisis 4	Anemia, Polydipsia	OMIM:606966
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome	Clinodactyly of the 5th finger, Lymphopenia, Chorioretinal coloboma	ORPHA:1116
Teratoma, Pineal	Polydipsia	OMIM:273120
Cystinosis, Nephropathic	Pigmentary retinopathy, Polydipsia, Retinal pigment epithelial mottling, Glycosuria, Genu valgum,...	OMIM:219800
Cleft Palate, Proliferative Retinopathy, And Developmental Delay	Micrognathia, Retinal neovascularization	OMIM:619074
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Short tibia, Preaxial polydactyly, Micrognathia, Fibular hypoplasia, Short ribs, Postaxial polyda...	OMIM:617925
Transcobalamin Deficiency	Lymphopenia, Pancytopenia, Thrombocytopenia, Neutropenia	ORPHA:859
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction	Hyperglycemia, Elevated hemoglobin A1c, Maturity-onset diabetes of the young	OMIM:609812
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland	Male infertility	ORPHA:2239
Hyperparathyroidism, Neonatal Severe	Anemia, Polydipsia, Metaphyseal irregularity, Splenomegaly	OMIM:239200
Microphthalmia With Limb Anomalies	2-3 toe cutaneous syndactyly, Finger aplasia, Capitate-hamate fusion, Toe syndactyly, Postaxial f...	OMIM:206920
Myotonic Dystrophy 2	Hypogonadism, Oligozoospermia	OMIM:602668
Ophthalmomandibulomelic Dysplasia	Lateral humeral condyle aplasia, Radial bowing, Ulnar deviated club hands, Fibular hypoplasia, Co...	OMIM:164900
East Syndrome	Salt craving, Polydipsia	ORPHA:199343
Lipodystrophy, Familial Partial, Type 3	Insulin resistance, Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Type II...	OMIM:604367
Arima Syndrome	Optic atrophy, Postaxial foot polydactyly, Polydipsia, Chorioretinal coloboma, Postaxial hand pol...	OMIM:243910
Familial Hyperaldosteronism Type Iii	Polydipsia	ORPHA:251274
Classic Galactosemia	Cryptorchidism, Decreased fertility in females, Oligomenorrhea, Primary amenorrhea, Premature ova...	ORPHA:79239
Acquired Aneurysmal Subarachnoid Hemorrhage	Memory impairment, Hyperglycemia, Leukocytosis, Addictive alcohol use, Cognitive impairment, Prog...	ORPHA:90065
Oligomeganephronia	Micrognathia, Polydipsia, Optic disc coloboma	ORPHA:2260
Immunodeficiency 97 With Autoinflammation	Decreased proportion of CD4+CD25+ regulatory T cells, Reduced natural killer cell count, Granulom...	OMIM:619802
Microphthalmia/Coloboma 12	Optic disc coloboma, Chorioretinal coloboma, Optic nerve aplasia, Remnants of the hyaloid vascula...	OMIM:120200
Tibial Hemimelia	Absent tibia	OMIM:275220
Hereditary Amyloidosis With Primary Renal Involvement	Hypogonadism, Oligozoospermia, Abnormal testis morphology, Primary testicular failure, Male infer...	ORPHA:85450
Fibular Dimelia-Diplopodia Syndrome	Absent tibia	ORPHA:1757
Nephronophthisis 1	Anemia, Polydipsia	OMIM:256100
Ciliary Dyskinesia, Primary, 19	Male infertility, Absent inner and outer dynein arms	OMIM:614935
Atelis Syndrome 2	Clinodactyly, Hyperinsulinemia, Micrognathia, Attention deficit hyperactivity disorder, Vitreous ...	OMIM:620185
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3	Achilles tendon calcification, Metacarpal periosteal thickening, Polydipsia	OMIM:617994
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias	Decreased proportion of CD4+CD25+ regulatory T cells, Lymphopenia, Autoimmune thrombocytopenia, D...	OMIM:619846
Saul-Wilson Syndrome	Short distal phalanx of finger, Pseudoepiphyses of the metacarpals, Hypoplasia of the odontoid pr...	OMIM:618150
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Decreased proportion of CD8-positive T cells, Lymphopenia, Hepatosplenomegaly, Decreased proporti...	ORPHA:169154
Senior-Boichis Syndrome	Polydipsia, Hepatosplenomegaly, Aggressive behavior, Attention deficit hyperactivity disorder, An...	ORPHA:84081
Diabetes Mellitus, Permanent Neonatal, 3	Hyperglycemia, Type I diabetes mellitus, Glycosuria	OMIM:618857
Eiken Syndrome	Delayed epiphyseal ossification, Broad femoral neck, Clinodactyly, Long hallux, Broad metatarsal,...	OMIM:600002
Gapo Syndrome	Hypogonadism, Amenorrhea, Oligozoospermia, Dysmenorrhea	ORPHA:2067
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome	Self-injurious behavior, Depression, Polydipsia, Hyperglycemia, Emotional lability, Polyphagia, A...	ORPHA:293987
Lipodystrophy, Familial Partial, Type 1	Hyperglycemia, Insulin-resistant diabetes mellitus	OMIM:608600
Hyperaldosteronism, Familial, Type Iii	Polydipsia	OMIM:613677
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome	Polydipsia	ORPHA:369929
Osteofibrous Dysplasia, Susceptibility To	Pseudoarthrosis, Fibular hypoplasia	OMIM:607278
Insulin-Resistance Syndrome Type B	Postprandial hyperglycemia, Insulin resistance, Glycosuria, Insulin-resistant diabetes mellitus, ...	ORPHA:2298
Beta-Ketothiolase Deficiency	Hypoglycemia, Anorexia, Hyperglycemia, Leukocytosis, Oral aversion, Thrombocytosis, Agitation	ORPHA:134
Nephrogenic Diabetes Insipidus	Polydipsia, Anorexia	ORPHA:223
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Abnormally low T cell receptor excision circle level, Lymphopenia, Hepatosplenomegaly, Pancytopen...	OMIM:618986
Acrofacial Dysostosis, Rodríguez Type	Finger aplasia, Abnormal pelvic girdle bone morphology, Aplasia/Hypoplasia of the radius, Microre...	ORPHA:1788
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency	Irregular menstruation, Male hypogonadism, Precocious puberty in females, Bifid scrotum, Bilatera...	ORPHA:90793
Atelosteogenesis, Type I	Radial bowing, Fibular aplasia, Micrognathia, Talipes, Talipes equinovarus, Aplasia/Hypoplasia of...	OMIM:108720
Toxic Epidermal Necrolysis	Polydipsia, Thrombocytopenia, Neutropenia, Anemia, Dysphagia	ORPHA:537
Oculo-Palato-Cerebral Syndrome	Small hand, Short foot, Retinal detachment, Remnants of the hyaloid vascular system	ORPHA:2714
Mandibuloacral Dysplasia With Type B Lipodystrophy	Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Micrognathia, Glucose intol...	OMIM:608612
Senior-Loken Syndrome 3	Polydipsia	OMIM:606995
Thrombocytopenia-Absent Radius Syndrome	Short forearm, Broad thumb, Finger syndactyly, Carpal synostosis, Fibular aplasia, Micrognathia, ...	OMIM:274000
Neuropathy, Hereditary Motor And Sensory, Okinawa Type	Hyperglycemia	OMIM:604484
Primary Unilateral Adrenal Hyperplasia	Polydipsia	ORPHA:231580
Erdheim-Chester Disease	Anemia, Polydipsia, Abnormal epiphysis morphology, Abnormal metaphysis morphology	ORPHA:35687
Occipital Horn Syndrome	Aplastic clavicle, Humerus varus, Genu valgum, Avascular necrosis of the capital femoral epiphysi...	ORPHA:198
Short Syndrome	Insulin resistance, Clinodactyly, Insulin-resistant diabetes mellitus, Slender long bone, Radial ...	OMIM:269880
Cartilage-Hair Hypoplasia	Abnormal pelvic girdle bone morphology, Hypoplasia of the odontoid process, Metaphyseal cupping, ...	OMIM:250250
Acro-Renal-Mandibular Syndrome	Hypoplastic scapulae, Finger syndactyly, Rudimentary fibula, Micrognathia, Rudimentary to absent ...	ORPHA:958
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Irregular epiphyses, Hypoplastic iliac wing, Hypoplastic pelvis, Early ossification of capital fe...	OMIM:208500
Panhypophysitis	Polydipsia, Normochromic anemia	ORPHA:95513
Multiple Mitochondrial Dysfunctions Syndrome 7	Hypoglycemia, Hyperglycemia, Ankle clonus, Irritability, Impulsivity, Hyperactivity, Thrombocytop...	OMIM:620423
Donohue Syndrome	Postprandial hyperglycemia, Long foot, Hyperglycemia, Hyperinsulinemia, Large hands, Fasting hypo...	OMIM:246200
Immunodeficiency 49	Abnormally low T cell receptor excision circle level, Lymphopenia, Micrognathia, Eosinophilia, Im...	OMIM:617237
Gitelman Syndrome	Insulin resistance, Type I diabetes mellitus, Polydipsia, Glucose intolerance, Type II diabetes m...	ORPHA:358
Immunodeficiency 85 And Autoimmunity	Decreased proportion of memory B cells, Reduced natural killer cell count, Lymphopenia, Decreased...	OMIM:619510
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Enlarged metaphyses, Abnormal ilium morphology, Postaxial foot polydactyly, Broad phalanges of th...	ORPHA:508533
Adult Idiopathic Neutropenia	Monocytopenia, Lymphopenia, Neutropenia, Monocytosis	ORPHA:2688
Fibrochondrogenesis 1	Hypoplastic ischia, Hypoplastic scapulae, Small hand, Rhizomelia, Broad long bones, Fibular hypop...	OMIM:228520
Aromatase Deficiency	Female infertility, Ambiguous genitalia, female, Female pseudohermaphroditism, Cryptorchidism, En...	ORPHA:91
Persistent Hyperplastic Primary Vitreous	Hyaloid vascular remnant and retrolental mass, Tractional retinal detachment, Macular hypoplasia,...	ORPHA:91495
45,X/46,Xy Mixed Gonadal Dysgenesis	Streak ovary, Abnormal scrotum morphology, Cryptorchidism, Chordee, Abnormal internal genitalia, ...	ORPHA:1772
Pancreatic And Cerebellar Agenesis	Hypoglycemia, Hyperglycemia, Overlapping fingers, Anemia, Diabetes mellitus, Optic nerve hypoplasia	OMIM:609069
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance	Salt craving, Polydipsia	OMIM:612780
Mitochondrial Complex Iii Deficiency, Nuclear Type 6	Progressive neurologic deterioration, Hyperglycemia, Hypoglycemia	OMIM:615453
Omodysplasia 2	Broad femoral neck, Short 1st metacarpal, Rhizomelic arm shortening, Micrognathia, Short humerus,...	OMIM:164745
Renal Hypoplasia	Polydipsia	ORPHA:93101
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities	Epiphyseal dysplasia, Hypoplasia of the capital femoral epiphysis, Lymphopenia, Narrow greater sc...	OMIM:617425
Acth-Independent Macronodular Adrenal Hyperplasia 2	Hyperglycemia, Depression	OMIM:615954
Immunodeficiency 36 With Lymphoproliferation	Lymphopenia, Splenomegaly, Chronic lymphatic leukemia, Increased proportion of transitional B cel...	OMIM:616005
Nephronophthisis 3	Polydipsia	OMIM:604387
Orofaciodigital Syndrome X	Finger aplasia, Fibular aplasia, Coalescence of tarsal bones, Preaxial hand polydactyly	OMIM:165590
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Abnormal male external genitalia morphology, Abnormal ovarian morphology, Increased size of the c...	ORPHA:95699
Mandibuloacral Dysplasia With Type A Lipodystrophy	Short distal phalanx of finger, Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsuline...	OMIM:248370
Mirage Syndrome	Hypoglycemia, Radial club hand, Lymphopenia, Overlapping fingers, Leukopenia, Talipes equinovarus...	OMIM:617053
Brain-Lung-Thyroid Syndrome	Abnormal eating behavior, Short attention span, Abnormal drinking behavior, Hyperactivity, Compul...	ORPHA:209905
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Retinal detachment, Adducted thumb, Remnants of the hyaloid vascular system, Retinal dysplasia, O...	OMIM:614643
Gitelman Syndrome	Salt craving, Polydipsia	OMIM:263800
Oculopalatocerebral Syndrome	Remnants of the hyaloid vascular system	OMIM:257910
Necrotizing Enterocolitis	Hyperglycemia, Leukocytosis, Abnormal glucose homeostasis, Thrombocytopenia, Neutropenia	ORPHA:391673
Purine Nucleoside Phosphorylase Deficiency	Lymphopenia, Autoimmune hemolytic anemia, Hyperactivity, Abnormal T cell morphology, Decreased pr...	ORPHA:760
Pgm3-Cdg	Reduced natural killer cell count, Abnormal CD4:CD8 ratio, Cutaneous abscess, Decreased/absent an...	ORPHA:443811
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis	Clitoral hypoplasia, Oligozoospermia	OMIM:614813
Bloom Syndrome	Premature ovarian insufficiency, Azoospermia, Oligozoospermia, Male infertility	ORPHA:125
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Lymphopenia, Cognitive impairment, Long fibula, Anemia, Abnormal metaphysis morphology	ORPHA:935
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome	Rhizomelic arm shortening, Lymphopenia, Leukopenia, Short humerus, Reticulocytopenia, B lymphocyt...	ORPHA:508542
Juvenile Nephropathic Cystinosis	Polydipsia, Abnormal long bone morphology, Glycosuria	ORPHA:411634
Helix Syndrome	Polydipsia	OMIM:617671
Epidermodysplasia Verruciformis, Susceptibility To, 5	Lymphopenia, T lymphocytopenia	OMIM:618309
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Abnormal T cell count, Lymphopenia, Hepatosplenomegaly, Decreased proportion of CD3-positive T ce...	ORPHA:331206
Cole Disease	Hyperglycemia, Palmoplantar keratoderma, Punctate palmoplantar hyperkeratosis	OMIM:615522
Bone Marrow Failure Syndrome 6	Increased mean corpuscular volume, Persistence of hemoglobin F, Lymphopenia, Neutropenia, Anemia	OMIM:618849
Autosomal Recessive Polycystic Kidney Disease	Polydipsia, Hepatosplenomegaly, Micrognathia, Hypersplenism, Splenomegaly, Cognitive impairment, ...	ORPHA:731
Phocomelia, Schinzel Type	Finger aplasia, Radial bowing, Micromelia, Aplasia/Hypoplasia involving the pelvis, Abnormal tibi...	ORPHA:2879
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease	Polydipsia, Diabetes mellitus	ORPHA:93111
Acrorenal-Mandibular Syndrome	Hypoplastic scapulae, Toe syndactyly, Rudimentary fibula, Micrognathia, Rudimentary to absent tib...	OMIM:200980
Fanconi-Bickel Syndrome	Postprandial hyperglycemia, Glycosuria, Bowing of the long bones, Fasting hypoglycemia, Diabetes ...	ORPHA:2088
Dend Syndrome	Hyperglycemia, Elevated hemoglobin A1c, Clinodactyly of the 4th finger	ORPHA:79134
Acromelic Frontonasal Dysplasia	Aplasia/Hypoplasia of the tibia, Talipes equinovarus, Preaxial foot polydactyly, Patellar hypoplasia	ORPHA:1827
Hemolytic Uremic Syndrome, Atypical, 8, With Rhizomelic Short Stature	Lymphopenia, Leukopenia, Neutropenia, Short long bone, Anemia, Schistocytosis, Thrombocytopenia, ...	OMIM:301110
Alstrom Syndrome	Pigmentary retinopathy, Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Att...	OMIM:203800
Campomelic Dysplasia	Small abnormally formed scapulae, 11 pairs of ribs, Micrognathia, Femoral bowing, Tibial bowing, ...	ORPHA:140
Hydrolethalus Syndrome 1	Accessory spleen, Preaxial hand polydactyly, Upper limb undergrowth, Micrognathia, Talipes equino...	OMIM:236680
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7	Anemia, Lymphopenia, Type I diabetes mellitus, Thrombocytopenia	OMIM:620365
Gastrointestinal Defects And Immunodeficiency Syndrome 2	Optic atrophy, Lymphopenia, Overlapping fingers, Micrognathia, Knee flexion contracture, Bilatera...	OMIM:619708
Distal Renal Tubular Acidosis	Polydipsia, Hemolytic anemia	ORPHA:18
T-Cell Immunodeficiency With Thymic Aplasia	Abnormally low T cell receptor excision circle level, Lymphopenia, Hepatosplenomegaly, Aplasia of...	OMIM:242700
Ataxia-Telangiectasia	Lymphopenia, Glucose intolerance, Decreased proportion of CD4-positive helper T cells, Abnormal B...	OMIM:208900
Symptomatic Form Of Hfe-Related Hemochromatosis	Abnormal metacarpophalangeal joint morphology, Hyperglycemia, Diabetes mellitus, Splenomegaly	ORPHA:465508
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6	Abnormally low T cell receptor excision circle level, Lymphopenia, Pancytopenia	OMIM:619767
Hypokalemic Periodic Paralysis	Postprandial hyperglycemia	ORPHA:681
Campomelic Dysplasia	Delayed epiphyseal ossification, Hypoplastic scapulae, Hypoplastic cervical vertebrae, Shortening...	OMIM:114290
Ciliary Dyskinesia, Primary, 1	Absent outer dynein arms, Male infertility	OMIM:244400
Hypomagnesemia 3, Renal	Genu valgum, Polydipsia, Short metacarpal, Bowing of the legs	OMIM:248250
Full Nf2-Related Schwannomatosis	Memory impairment, Abnormal optic nerve morphology, Epiretinal membrane, Remnants of the hyaloid ...	ORPHA:637
Schneckenbecken Dysplasia	Hypoplastic ilia, Hypoplastic scapulae, Micromelia, Fibular hypoplasia, Short ribs, Hypoplastic v...	ORPHA:3144
Hyperparathyroidism-Jaw Tumor Syndrome	Polydipsia, Dysphagia	ORPHA:99880
Charge Syndrome	Bifid femur, Short thumb, Retinal coloboma, Lymphopenia, Micrognathia, Self-mutilation, Down-slop...	OMIM:214800
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Optic atrophy, Type I diabetes mellitus, Lymphopenia, Pancytopenia, Hepatosplenomegaly, Leukopeni...	OMIM:615688
Parathyroid Carcinoma	Polydipsia, Dysphagia	ORPHA:143
Ulna And Fibula, Absence Of, With Severe Limb Deficiency	Radial bowing, Aplasia/Hypoplasia of the pubic bone, Fibular aplasia, Humeroradial synostosis, Ap...	OMIM:276820
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive	Retinal fold, Retinal nonattachment, Remnants of the hyaloid vascular system	OMIM:221900
Norrie Disease	Self-injurious behavior, Optic atrophy, Irritability, Abnormal vitreous humor morphology, Attenti...	ORPHA:649
Isolated Sedoheptulokinase Deficiency	Postprandial hyperglycemia, Anemia, Hypochromic microcytic anemia, Hip dysplasia	ORPHA:440713
Atypical Werner Syndrome	Glycosuria, Insulin-resistant diabetes mellitus, Fasting hyperinsulinemia, Finger clinodactyly, H...	ORPHA:79474
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Growth arrest lines, Abnormal pelvic girdle bone morphology, Lymphopenia, Autoimmune hemolytic an...	OMIM:102700
Carney Complex	Precocious puberty, Leydig cell neoplasia, Abnormal sperm motility, Sertoli cell neoplasm, Abnorm...	ORPHA:1359
Pierson Syndrome	Retinal vascular tortuosity, Hypopigmentation of the fundus, Macular hypoplasia, Retinal detachme...	OMIM:609049
Proximal Renal Tubular Acidosis	Polydipsia, Glycosuria	ORPHA:47159
Pyruvate Carboxylase Deficiency	Abnormal temper tantrums, Hypoglycemia, Hyperglycemia, Recurrent hand flapping, Anorexia, Compuls...	ORPHA:3008
Cushing Disease	Memory impairment, Depression, Lymphopenia, Optic nerve compression, Leukocytosis, Emotional labi...	ORPHA:96253
Coccidioidomycosis	Abnormality of the female genitalia, Abnormal sperm morphology, Abnormality of the male genitalia	ORPHA:228123
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness	Polydipsia	OMIM:602522
Mitochondrial Complex Iii Deficiency, Nuclear Type 1	Depression, Hypoglycemia, Recurrent hypoglycemia, Hyperglycemia, Emotional lability, Rod-cone dys...	OMIM:124000
Isolated Permanent Neonatal Diabetes Mellitus	Glycosuria, Hyperglycemia, Neonatal insulin-dependent diabetes mellitus, Retinopathy	ORPHA:99885
Cranioectodermal Dysplasia 1	Short distal phalanx of finger, Rhizomelia, Clinodactyly, Short toe, Radial deviation of finger, ...	OMIM:218330
Otopalatodigital Syndrome, Type Ii	Broad thumb, Toe syndactyly, Radial bowing, Rudimentary fibula, Overlapping fingers, Micrognathia...	OMIM:304120
Microphthalmia, Syndromic 2	2-3 toe cutaneous syndactyly, Hand clenching, Sandal gap, Broad hallux, Contracture of the proxim...	OMIM:300166
Kinsship Syndrome	Bruxism, Micrognathia, Fibular hypoplasia, Polydactyly, Coxa valga, Pes planus, Dislocated radial...	OMIM:619297
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative	Lymphopenia, T lymphocytopenia, Absent natural killer cells, Impaired lymphocyte transformation w...	OMIM:600802
Orofaciodigital Syndrome Type 4	Aplasia/Hypoplasia of the tibia, Finger syndactyly, Micromelia, Preaxial hand polydactyly, Campto...	ORPHA:2753
Neuroocular Syndrome 1	Genu recurvatum, Prominent fingertip pads, Tibial torsion, Hypoplasia of the fovea, Attention def...	OMIM:619539
Mitchell-Riley Syndrome	Hyperglycemia, Diabetes mellitus	OMIM:615710
Bartter Syndrome, Type 2, Antenatal	Polydipsia	OMIM:241200
Tetrasomy 9P	Micropenis, Infertility, Cryptorchidism, Oligozoospermia	ORPHA:3310
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency	Absent natural killer cells, Lymphopenia, Hepatosplenomegaly, Impaired lymphocyte transformation ...	ORPHA:35078
Bardet-Biedl Syndrome	Insulin resistance, Fifth finger distal phalanx clinodactyly, Depression, Finger syndactyly, Impa...	ORPHA:110
Abdominal Obesity-Metabolic Syndrome 3	Hyperglycemia, Type II diabetes mellitus	OMIM:615812
Lipodystrophy, Familial Partial, Type 2	Hyperglycemia, Hyperinsulinemia, Type II diabetes mellitus, Insulin-resistant diabetes mellitus	OMIM:151660
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Small hand, Hypoplasia of proximal radius, Hyperglycemia, Micrognathia, Fibular hypoplasia, Brach...	ORPHA:444077
Fanconi-Bickel Syndrome	Postprandial hyperglycemia, Glycosuria, Fasting hypoglycemia	OMIM:227810
Scorpion Envenomation	Hyperglycemia, Restlessness, Glycosuria	ORPHA:466677
Leprechaunism	Postprandial hyperglycemia, Insulin resistance, Long foot, Hyperinsulinemia, Recurrent infantile ...	ORPHA:508
Cystic Fibrosis	Male infertility	OMIM:219700
Mitochondrial Complex Iv Deficiency, Nuclear Type 5	Hyperglycemia, Micrognathia, Dysphagia, Hypoglycemia	OMIM:220111
Heart Defects, Congenital, And Other Congenital Anomalies	Hyperglycemia, Diabetes mellitus, Glycosuria	OMIM:600001
Thyrotoxic Periodic Paralysis	Postprandial hyperglycemia	ORPHA:79102
Holoprosencephaly 2	Chorioretinal coloboma, Remnants of the hyaloid vascular system	OMIM:157170
Alström Syndrome	Irregular menstruation, Testicular fibrosis, Precocious puberty in females, Hypoplasia of the Ley...	ORPHA:64

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 Elapor1

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 Elapor1.

There are 1 publication which use IMPC produced mice or data.

Title	Journal	IMPC Allele	PubMed ID
Inceptor counteracts insulin signalling in β-cells to control glycaemia.	Nature (January 2021)	Elapor1^{tm1c(EUCOMM)Hmgu} Elapor1^{tm1a(EUCOMM)Hmgu} Elapor1^{tm1b(EUCOMM)Hmgu}	33505018

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele	Allele Type	Produced
Elapor1^{tm1b(EUCOMM)Hmgu}	Reporter-tagged deletion allele (with selection cassette)	Mice
Elapor1^{tm1a(EUCOMM)Hmgu}	KO first allele (reporter-tagged insertion with conditional potential)	Mice, Targeting vectors, ES Cells
Elapor1^{tm1(KOMP)Vlcg}	Reporter-tagged deletion allele (with selection cassette)	ES Cells
Elapor1^{tm401(L1L2_gt0)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors
Elapor1^{tm1e(EUCOMM)Hmgu}	Targeted, non-conditional allele	ES Cells

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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Gene: Elapor1 MGI:1923930

Gene Summary

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IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

X-ray

X-ray

Immunophenotyping

Immunophenotyping

Human diseases caused by Elapor1 mutations

Histopathology

IMPC related publications

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Access Data Release 21.1 Data