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Gene: Ndrg3 MGI:1352499

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Gene Summary

Name:
N-myc downstream regulated gene 3
Synonyms:
Ndr3,  4833415O14Rik

Order Alleles

IMPC Data Collections

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 System Allele Zyg Sex Life Stage P Value
enlarged spleen Ndrg3em1(IMPC)Mbp HET Early adult 0.00
enlarged kidney Ndrg3em1(IMPC)Mbp HET Early adult 0.00
decreased circulating calcium level Ndrg3em1(IMPC)Mbp HET Early adult 8.35×10-05
preweaning lethality, complete penetrance Ndrg3em1(IMPC)Mbp HOM   Early adult 0.00
prenatal lethality prior to heart atrial septation Ndrg3em1(IMPC)Mbp HOM   E15.5 0.00
small testis Ndrg3em1(IMPC)Mbp HET Early adult 0.00
abnormal testis morphology Ndrg3em1(IMPC)Mbp HET Early adult 0.00
increased freezing behavior Ndrg3em1(IMPC)Mbp HET Early adult 4.74×10-05
abnormal eye morphology Ndrg3em1(IMPC)Mbp HET Early adult 0.00
abnormal neural tube morphology Ndrg3em1(IMPC)Mbp HET E9.5 0.00

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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 Dorso Ventral

30 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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Gross Morphology Embryo E9.5

Images

8 Images

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Human diseases caused by Ndrg3 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 Ndrg3 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Partial Chromosome Y Deletion
Male infertility, Abnormal spermatogenesis, Oligozoospermia, Decreased testicular size, Non-obstr... ORPHA:1646
Spermatogenic Failure 25
Male infertility, Decreased testicular size, Cryptozoospermia, Non-obstructive azoospermia, Sperm... OMIM:617960
Spermatogenic Failure 63
Decreased testicular size, Male infertility, Oligozoospermia, Reduced progressive sperm motility OMIM:619689
Spermatogenic Failure 54
Short sperm flagella, Male infertility, Abnormal sperm axoneme morphology, Tapered sperm head, Ol... OMIM:619379
Spermatogenic Failure, X-Linked, 3
Short sperm flagella, Male infertility, Oligozoospermia, Reduced sperm motility, Absent sperm fla... OMIM:301059
Spermatogenic Failure 30
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Cryptozoospermia, Cryptorchidism OMIM:618110
Spermatogenic Failure 84
Short sperm flagella, Male infertility, Oligozoospermia, Reduced sperm motility, Reduced progress... OMIM:620409
Spermatogenic Failure 65
Short sperm flagella, Male infertility, Oligozoospermia, Abnormal sperm mid-piece morphology, Red... OMIM:619712
Spermatogenic Failure 1
Male infertility, Oligozoospermia, Cryptozoospermia OMIM:258150
Spermatogenic Failure 48
Male infertility, Oligozoospermia, Spermatogenesis maturation arrest, Azoospermia OMIM:619108
Spermatogenic Failure 40
Short sperm flagella, Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella, C... OMIM:618664
Spermatogenic Failure 56
Short sperm flagella, Male infertility, Oligozoospermia, Reduced sperm motility, Reduced progress... OMIM:619515
Spermatogenic Failure 80
Short sperm flagella, Male infertility, Oligozoospermia, Reduced progressive sperm motility, Abse... OMIM:620222
Spermatogenic Failure 76
Short sperm flagella, Male infertility, Oligozoospermia, Reduced sperm motility, Irregularly shap... OMIM:620084
Spermatogenic Failure 51
Short sperm flagella, Absent sperm axoneme central pair complex, Microcephalic sperm head, Oligoz... OMIM:619177
Spermatogenic Failure 47
Short sperm flagella, Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella OMIM:619102
Spermatogenic Failure 39
Short sperm flagella, Male infertility, Tapered sperm head, Oligozoospermia, Reduced sperm motili... OMIM:618643
Spermatogenic Failure 58
Short sperm flagella, Male infertility, Oligozoospermia, Reduced progressive sperm motility, Immo... OMIM:619585
Spermatogenic Failure 79
Male infertility, Oligozoospermia, Coiled sperm flagella, Reduced sperm motility OMIM:620196
Spermatogenic Failure 11
Abnormal sperm morphology, Male infertility, Oligozoospermia, Reduced sperm motility OMIM:615081
Spermatogenic Failure 10
Abnormal sperm morphology, Male infertility, Oligozoospermia, Reduced sperm motility OMIM:614822
Spermatogenic Failure 41
Short sperm flagella, Male infertility, Tapered sperm head, Oligozoospermia, Immotile sperm OMIM:618670
Male Infertility Due To Acephalic Spermatozoa
Male infertility, Acephalic spermatozoa, Oligozoospermia, Abnormal sperm mid-piece morphology, Re... ORPHA:529970
Spermatogenic Failure 8
Oligozoospermia, Cryptozoospermia, Azoospermia OMIM:613957
Spermatogenic Failure 22
Male infertility, Cryptozoospermia, Non-obstructive azoospermia OMIM:617706
Spermatogenic Failure 7
Male infertility, Oligozoospermia, Immotile sperm, Reduced sperm motility OMIM:612997
Spermatogenic Failure 70
Male infertility, Reduced sperm motility, Oligozoospermia, Azoospermia OMIM:619828
Spermatogenic Failure 64
Male infertility, Oligozoospermia, Abnormal sperm head morphology, Reduced progressive sperm moti... OMIM:619696
Spermatogenic Failure 57
Decreased testicular size, Male infertility, Non-obstructive azoospermia, Spermatogenesis maturat... OMIM:619528
Spermatogenic Failure 50
Decreased testicular size, Male infertility, Spermatogenesis maturation arrest, Azoospermia OMIM:619145
Spermatogenic Failure 32
Male infertility, Sertoli cell-only phenotype, Non-obstructive azoospermia OMIM:618115
Spermatogenic Failure 71
Male infertility, Sertoli cell-only phenotype, Non-obstructive azoospermia OMIM:619831
Spermatogenic Failure 81
Male infertility, Oligozoospermia, Acrosomal hypoplasia, Reduced progressive sperm motility OMIM:620277
Spermatogenic Failure 73
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619878
Spermatogenic Failure 59
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619645
Spermatogenic Failure 60
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619646
Spermatogenic Failure 74
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619937
Spermatogenic Failure 62
Male infertility, Spermatocyte maturation arrest, Non-obstructive azoospermia OMIM:619673
Spermatogenic Failure 61
Male infertility, Spermatocyte maturation arrest, Non-obstructive azoospermia OMIM:619672
Spermatogenic Failure 88
Male infertility, Spermatocyte maturation arrest, Non-obstructive azoospermia OMIM:620547
Isochromosomy Yp
Male infertility, Azoospermia, Decreased testicular size, Ambiguous genitalia, Primary gonadal in... ORPHA:98797
Spermatogenic Failure, X-Linked, 2
Male infertility, Spermatogenesis maturation arrest, Testicular atrophy, Azoospermia OMIM:309120
Spermatogenic Failure 38
Male infertility, Abnormal sperm head morphology, Abnormal axonemal organization of respiratory m... OMIM:618433
Spermatogenic Failure 12
Infertility, Abnormal male germ cell morphology, Azoospermia OMIM:615413
Neural Tube Defects, Folate-Sensitive
Spinal dysraphism OMIM:601634
Spermatogenic Failure 35
Short sperm flagella, Male infertility, Absent sperm axoneme central pair complex, Absent sperm f... OMIM:618341
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation
Obstructive azoospermia, Azoospermia, Abnormal spermatogenesis, Decreased testicular size, Non-ob... ORPHA:399805
Isochromosomy Yq
Male infertility, Azoospermia, Decreased testicular size, Varicocele, Ambiguous genitalia, Primar... ORPHA:98798
Spermatogenic Failure 20
Short sperm flagella, Male infertility, Absent sperm flagella, Coiled sperm flagella OMIM:617593
Spermatogenic Failure 72
Short sperm flagella, Male infertility, Absent sperm axoneme central pair complex, Reduced progre... OMIM:619867
Spermatogenic Failure 34
Short sperm flagella, Male infertility, Absent sperm axoneme central pair complex, Reduced sperm ... OMIM:618153
Spermatogenic Failure 52
Male infertility, Azoospermia OMIM:619202
Spermatogenic Failure, Y-Linked, 2
Male infertility, Azoospermia OMIM:415000
Spermatogenic Failure 4
Male infertility, Azoospermia OMIM:270960
Spermatogenic Failure 23
Male infertility, Azoospermia OMIM:617707
Spermatogenic Failure 29
Male infertility, Immotile sperm, Non-obstructive azoospermia OMIM:618091
Polycystic Kidney Disease 5
Enlarged kidney, Polycystic kidney dysplasia, Hepatosplenomegaly, Hyperechogenic kidneys, Reduced... OMIM:617610
Spermatogenic Failure 37
Short sperm flagella, Male infertility, Reduced sperm motility, Absent sperm flagella, Irregularl... OMIM:618429
Spermatogenic Failure 18
Short sperm flagella, Male infertility, Reduced sperm motility, Absent sperm flagella, Irregularl... OMIM:617576
Spermatogenic Failure 33
Short sperm flagella, Male infertility, Reduced sperm motility, Absent sperm flagella, Irregularl... OMIM:618152
Spermatogenic Failure 46
Short sperm flagella, Male infertility, Reduced sperm motility, Absent sperm flagella, Irregularl... OMIM:619095
Spermatogenic Failure 27
Short sperm flagella, Male infertility, Absent sperm axoneme central pair complex, Reduced sperm ... OMIM:617965
Spermatogenic Failure 2
Abnormal circulating luteinizing hormone concentration, Male infertility, Abnormal circulating fo... OMIM:108420
Spermatogenic Failure, X-Linked, 5
Short sperm flagella, Male infertility, Reduced sperm motility, Reduced progressive sperm motilit... OMIM:301099
Spermatogenic Failure 77
Abnormal circulating luteinizing hormone concentration, Male infertility, Abnormal circulating te... OMIM:620103
Spermatogenic Failure 43
Male infertility, Absent sperm axoneme central pair complex, Reduced sperm motility, Coiled sperm... OMIM:618751
Spermatogenic Failure 19
Short sperm flagella, Male infertility, Reduced sperm motility, Coiled sperm flagella, Absent spe... OMIM:617592
Spermatogenic Failure 82
Short sperm flagella, Male infertility, Coiled sperm flagella, Reduced progressive sperm motility... OMIM:620353
Spermatogenic Failure 49
Short sperm flagella, Male infertility, Reduced sperm motility, Coiled sperm flagella, Absent spe... OMIM:619144
Spermatogenic Failure 45
Short sperm flagella, Male infertility, Reduced sperm motility, Coiled sperm flagella, Absent spe... OMIM:619094
Spermatogenic Failure 36
Male infertility, Abnormal sperm morphology OMIM:618420
Spermatogenic Failure 42
Short sperm flagella, Male infertility, Microcephalic sperm head, Tapered sperm head, Reduced spe... OMIM:618745
Hypoparathyroidism, Familial Isolated, 1
Irritability, Hypocalcemic seizures, Hypoparathyroidism, Hypocalcemia, Nephrocalcinosis, Hyperpho... OMIM:146200
Deafness-Infertility Syndrome
Male infertility, Azoospermia ORPHA:94064
Male Infertility With Teratozoospermia Due To Single Gene Mutation
Abnormal sperm tail morphology, Abnormal spermatogenesis, Decreased testicular size, Globozoosper... ORPHA:399808
Spermatogenic Failure 86
Male infertility, Abnormal sperm head morphology, Acephalic spermatozoa, Acrosomal hypoplasia, Ru... OMIM:620499
Deafness-Infertility Syndrome
Male infertility, Abnormal sperm head morphology, Abnormal spermatogenesis, Reduced sperm motilit... OMIM:611102
Spermatogenic Failure 83
Altered location of the longitudinal column in the fibrous sheath, Male infertility, Reduced sper... OMIM:620354
Spermatogenic Failure 78
Male infertility, Tapered sperm head, Microcephalic sperm head OMIM:620170
Deleted in azoospermia
Azoospermia OMIM:400003
Spermatogenic Failure 5
Male infertility, Macrozoospermia, Multiflagellar spermatozoa OMIM:243060
Spermatogenic Failure 24
Short sperm flagella, Microcephalic sperm head, Tapered sperm head, Reduced sperm motility, Coile... OMIM:617959
Lipodystrophy, Congenital Generalized, Type 3
Hypertriglyceridemia, Hepatomegaly, Hypocalcemia, Hepatosplenomegaly, Splenomegaly, Primary ameno... OMIM:612526
Isolated Follicle Stimulating Hormone Deficiency
Delayed puberty, Male hypogonadism, Azoospermia, Oligozoospermia, Delayed menarche, Testicular at... ORPHA:52901
Hepatorenocardiac Degenerative Fibrosis
Enlarged kidney, Jaundice, Tubular luminal dilatation, Cirrhosis, Hepatocellular carcinoma, Renal... OMIM:619902
Alpha-Heavy Chain Disease
Hepatomegaly, Anemia, Lymphadenopathy, Hypocalcemia, Ascites, Splenomegaly ORPHA:100025
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Male infertility, Abnormal sperm morphology, Immotile sperm OMIM:608653
Familial Peripheral Male-Limited Precocious Puberty
Male infertility, Long penis, Oligozoospermia, Precocious puberty, Macroorchidism ORPHA:3000
Hypogonadism, Male
Testicular atrophy, Male hypogonadism, Micropenis, Hypospadias OMIM:241100
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Jaundice, Hypocalcemia, Elevated circulating gamma-aminobutyric acid concentration, Cholestasis, ... OMIM:619658
Ciliary Dyskinesia, Primary, 51
Short sperm flagella, Male infertility, Oligozoospermia, Reduced sperm motility, Reduced progress... OMIM:620438
Progressive Familial Intrahepatic Cholestasis
Jaundice, Hepatomegaly, Hypocalcemia, Cholestasis, Splenomegaly ORPHA:172
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Male infertility, Hypocalcemic seizures, Congenital hypoparathyroidism, Hypercalciuria, Hypocalce... ORPHA:2239
Spermatogenic Failure 87
Male infertility, Ruffled acrosome OMIM:620500
Spermatogenic Failure 31
Acephalic spermatozoa, Male infertility OMIM:618112
Spermatogenic Failure 53
Male infertility, Tapered sperm head OMIM:619258
Spermatogenic Failure 26
Acephalic spermatozoa, Male infertility OMIM:617961
Congenital Bilateral Absence Of Vas Deferens
Absent vas deferens, Male infertility, Oligozoospermia, Obstructive azoospermia ORPHA:48
Hypoparathyroidism, Familial Isolated, 2
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures, Decreased circulating parathyroid hormone... OMIM:618883
Spermatogenic Failure 16
Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:617187
Spermatogenic Failure 21
Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:617644
Young Syndrome
Obstructive azoospermia, Decreased fertility ORPHA:3471
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Enlarged kidney, Hepatomegaly, Anemia, Thrombocytopenia, Splenomegaly, Leukopenia, Extramedullary... OMIM:615285
Spermatogenic Failure 75
Male infertility, Spermatocyte maturation arrest, Elevated circulating follicle stimulating hormo... OMIM:619949
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly
Male hypogonadism, Azoospermia OMIM:241000
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
Hypocalcemia, T lymphocytopenia DECIPHER:16
Pseudohypoparathyroidism, Type Ii
Pseudohypoparathyroidism, Hyperphosphatemia, Elevated circulating parathyroid hormone level, Hypo... OMIM:203330
Hypocalcemia, Autosomal Dominant 2
Hypocalcemia, Abnormal blood phosphate concentration OMIM:615361
Pseudohypoparathyroidism Type 2
Elevated circulating parathyroid hormone level, Hypocalcemic seizures, Hypocalcemia, Pseudohypopa... ORPHA:94090
Spinocerebellar Ataxia Type 32
Male infertility, Testicular atrophy, Azoospermia ORPHA:276183
Spinocerebellar Ataxia 32
Infertility, Testicular atrophy, Azoospermia OMIM:613909
Blue Diaper Syndrome
Abnormal abdomen morphology, Nephrocalcinosis, Hypercalcemia, Abnormal circulating tryptophan con... OMIM:211000
Immunodeficiency, Common Variable, 6
Enlarged kidney, Hepatomegaly, Nephrotic range proteinuria, Abnormal T cell count, Mesangial Immu... OMIM:613496
2P21 Microdeletion Syndrome
Hypocalcemia, Nephrolithiasis, Hypogonadism, Cystinuria ORPHA:163693
Hypocalcemia, Autosomal Dominant 1
Decreased glomerular filtration rate, Hypokalemia, Hypercalciuria, Hypocalcemia, Nephrolithiasis,... OMIM:601198
Spermatogenic Failure 15
Abnormal circulating luteinizing hormone concentration, Male infertility, Abnormal circulating fo... OMIM:616950
Spermatogenic Failure 44
Male infertility, Abnormal circulating testosterone concentration, Acephalic spermatozoa, Decreas... OMIM:619044
Congenital Megacalycosis
Enlarged kidney, Hematuria, Dilatation of renal calices, Recurrent urinary tract infections, Neph... ORPHA:93109
Pseudohypoparathyroidism, Type Ib
Elevated circulating parathyroid hormone level, Low urinary cyclic AMP response to PTH administra... OMIM:603233
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy
Polyuria, Hypokalemia, Hypocalcemia, Hyponatremia, Nephrocalcinosis, Hypomagnesemia OMIM:620152
Azoospermia, Obstructive, With Nephrolithiasis
Obstructive azoospermia, Male infertility, Spermatocele OMIM:301060
Spermatogenic Failure, X-Linked, 7
Male infertility, Multiflagellar spermatozoa, Reduced sperm motility, Globozoospermia, Excess res... OMIM:301106
Ring Chromosome Y Syndrome
Ambiguous genitalia, male, Gonadal dysgenesis, Abnormality of the female genitalia, Male infertil... ORPHA:261529
Renal Tubular Acidosis, Distal, 1
Hypokalemia, Hypocalcemia, Impaired urinary acidification, Nephrolithiasis, Nephrocalcinosis, Dis... OMIM:179800
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Hepatomegaly, Splenomegaly ORPHA:2274
Nephronophthisis 16
Enlarged kidney, Nephronophthisis, Periportal fibrosis, Polycystic kidney dysplasia, Cholestasis,... OMIM:615382
Autoimmune Hypoparathyroidism
Irritability, Hypocalcemic seizures, Hypocalcemia, Depression, Autoimmune hypoparathyroidism, Cal... ORPHA:36913
Hyperparathyroidism 2 With Jaw Tumors
Parathyroid carcinoma, Renal cortical adenoma, Hurthle cell thyroid adenoma, Polycystic kidney dy... OMIM:145001
Nephronophthisis 3
Polydipsia, Polyuria, Enlarged kidney, Nephronophthisis, Hematuria, Tubulointerstitial fibrosis, ... OMIM:604387
Morbid Obesity And Spermatogenic Failure
Infertility, Oligozoospermia, Type II diabetes mellitus, Azoospermia OMIM:615703
Spermatogenic Failure 85
Male infertility, Acephalic spermatozoa, Globozoospermia, Reduced progressive sperm motility, Coi... OMIM:620490
Nephronophthisis 2
Hyperkalemia, Chronic tubulointerstitial nephritis, Enlarged kidney, Nephronophthisis, Elevated c... OMIM:602088
Spina Bifida-Hypospadias Syndrome
Spinal dysraphism, Spina bifida ORPHA:3176
Aa Amyloidosis
Abnormality of the kidney, Enlarged kidney, Acute kidney injury, Hepatomegaly, Cholestasis, Nephr... ORPHA:85445
Diffuse Neonatal Hemangiomatosis
Renal hypoplasia/aplasia, Hepatomegaly, Anemia, Abnormal vagina morphology, Ascites, Hypercalcemi... ORPHA:2123
Spermatogenic Failure 28
Male infertility, Decreased testicular size, Elevated circulating follicle stimulating hormone le... OMIM:618086
Hypomagnesemia 1, Intestinal
Hypocalcemia, Hypomagnesemia OMIM:602014
Hypercalcemia, Infantile, 2
Polyuria, Renal phosphate wasting, Hypercalciuria, Medullary nephrocalcinosis, Nephrocalcinosis, ... OMIM:616963
Hypotonia-Cystinuria Syndrome
Decreased response to growth hormone stimulation test, Hypocalcemia, Nephrolithiasis, Polyphagia,... OMIM:606407
Oculoskeletodental Syndrome
Hepatomegaly, Hypercalciuria, Hypocalcemia, Mucopolysacchariduria, Renal agenesis, Hypothyroidism... OMIM:618440
Hyperparathyroidism 4
Parathyroid carcinoma, Hypercalcemia, Nephrolithiasis, Primary hyperparathyroidism OMIM:617343
Nephropathy-Deafness-Hyperparathyroidism Syndrome
Glomerulopathy, Anemia, Hypercalcemia, Proteinuria, Renal insufficiency, Hyperparathyroidism ORPHA:2668
Pseudohypoparathyroidism Type 1B
Irritability, Decreased response to growth hormone stimulation test, Low urinary cyclic AMP respo... ORPHA:94089
Anencephaly 1
Anencephaly, Spina bifida OMIM:206500
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Enlarged kidney, Enlarged polycystic ovaries, Elevated circulating growth hormone concentration, ... ORPHA:90301
Renal Dysplasia
Pelvic mass, Enlarged kidney, Renal hypoplasia/aplasia, Abnormal nephron morphology, Urinary inco... ORPHA:93108
Granulomatous Slack Skin
Acute kidney injury, Abnormal lymph node morphology, Nephrocalcinosis, Hypercalcemia ORPHA:33111
Pandas
Anorexia, Irritability, Obsessive-compulsive trait, Abnormal fear-induced behavior, Depression, E... ORPHA:66624
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Enlarged kidney, Hepatomegaly, Renal insufficiency, Tubulointerstitial fibrosis, Polycystic kidne... OMIM:263200
Hemochromatosis, Type 2B
Cirrhosis, Hepatomegaly, Anemia, Secondary amenorrhea, Increased circulating iron concentration, ... OMIM:613313
Premature Ovarian Failure 10
Premature ovarian insufficiency, Azoospermia, Hypoplasia of the ovary, Decreased testicular size,... OMIM:612885
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Hepatomegaly, Abnormal fallopian tube morphology, Hypocalcemia, Abnormal renal morphology, Pancre... ORPHA:1655
Spermatogenic Failure 6
Male infertility, Globozoospermia, Decreased acrosin in sperm head OMIM:102530
Vitamin D-Dependent Rickets, Type 3
Hypocalcemia, Elevated circulating parathyroid hormone level, Hypophosphatemia OMIM:619073
Myopathy, Tubular Aggregate, 2
Hypocalcemia, Elevated circulating creatine kinase concentration OMIM:615883
Mantle Cell Lymphoma
Anorexia, Lymphadenopathy, Splenomegaly ORPHA:52416
Spermatogenic Failure 14
Abnormal circulating luteinizing hormone concentration, Male infertility, Abnormal circulating te... OMIM:615842
Autosomal Dominant Polycystic Kidney Disease
Enlarged kidney, Elevated circulating creatinine concentration, Hematuria, Decreased glomerular f... ORPHA:730
Kennedy Disease
Decreased fertility, Type II diabetes mellitus, Erectile dysfunction, Testicular atrophy ORPHA:481
Denys-Drash Syndrome
Ambiguous genitalia, male, Gonadal dysgenesis, Enlarged kidney, Ambiguous genitalia, female, Male... OMIM:194080
Meckel Syndrome, Type 8
Ambiguous genitalia, Enlarged kidney, Hyperechogenic kidneys, Polycystic kidney dysplasia OMIM:613885
Pseudohypoparathyroidism, Type Ic
Elevated circulating thyroid-stimulating hormone concentration, Elevated circulating parathyroid ... OMIM:612462
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia
Azoospermia, Decreased circulating follicle stimulating hormone concentration, Infertility, Decre... OMIM:229070
Adrenal Hypoplasia, Congenital
Delayed puberty, Azoospermia, Adrenal hypoplasia, Oligozoospermia, Precocious puberty, Absence of... OMIM:300200
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked
Absent vas deferens, Male infertility, Azoospermia OMIM:300985
Vas Deferens, Congenital Bilateral Aplasia Of
Absent vas deferens, Male infertility, Azoospermia OMIM:277180
Glycoprotein Storage Disease
Splenomegaly OMIM:232900
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Hypocalcemic seizures, Hypoparathyroidism, Unilateral renal agenesis, Hypocalcemia, Polycystic ki... ORPHA:2237
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria
Renal tubular acidosis, Hypercalciuria, Nephrocalcinosis, Hypercalcemia, Hyperparathyroidism OMIM:239199
Familial Isolated Hypoparathyroidism
Hypocalcemia, Abnormal circulating calcium-phosphate regulating hormone concentration, Hypoparath... ORPHA:2238
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Splenomegaly, Hyperlipoproteinemia, Recurrent pancreatitis OMIM:118830
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Hepatomegaly, Hypocalcemia, Pancreatic lymphangiectasis, Hypoproteinemia, Ascites, Hydronephrosis... OMIM:235255
Renal-Hepatic-Pancreatic Dysplasia 1
Enlarged kidney, Hyperechogenic pancreas, Cholestasis, Biliary cirrhosis, Splenomegaly, Stage 5 c... OMIM:208540
Trimethylaminuria
Trimethylaminuria, Anemia, Depression, Splenomegaly, Neutropenia OMIM:602079
Gracile Bone Dysplasia
Hypocalcemia, Ascites, Asplenia, Hypoplastic spleen, Micropenis OMIM:602361
Hypercalcemia, Infantile, 1
Polyuria, Hypercalciuria, Medullary nephrocalcinosis, Nephrolithiasis, Nephrocalcinosis, Hypercal... OMIM:143880
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Decreased response to growth hormone stimulation test, Hypospadias, Hypercalciuria, Adrenal hypop... OMIM:614732
Neutropenia, Severe Congenital, 9, Autosomal Dominant
3-Methylglutaconic aciduria, Splenomegaly OMIM:619813
Paternal Uniparental Disomy Of Chromosome 1
Delayed puberty, Enlarged kidney, Polyphagia, Episodic hemolytic anemia, Increased blood urea nit... ORPHA:251004
Functioning Gonadotropic Adenoma
Delayed puberty, Impotence, Ovarian cyst, Decreased female libido, Decreased response to growth h... ORPHA:91348
Proteasome-Associated Autoinflammatory Syndrome 5
Hypertriglyceridemia, Hepatomegaly, Splenomegaly OMIM:619175
Familial Isolated Hyperparathyroidism
Elevated circulating parathyroid hormone level, Hypercalciuria, Primary hyperparathyroidism, Hype... ORPHA:99879
Isolated Splenogonadal Fusion
Abnormal epididymis morphology, Ectopia of the spleen, Bilateral cryptorchidism, Unilateral crypt... ORPHA:457083
Diarrhea 10, Protein-Losing Enteropathy Type
Hypertriglyceridemia, Polyuria, Elevated circulating thyroid-stimulating hormone concentration, H... OMIM:618183
Young Syndrome
Azoospermia OMIM:279000
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Decreased response to growth hormone stimulation test, Hypocalcemic seizures, Decreased circulati... OMIM:241410
Multicystic Dysplastic Kidney
Enlarged kidney, Unilateral renal agenesis, Ureterovesical junction obstruction, Vesicoureteral r... ORPHA:1851
Autosomal Recessive Kenny-Caffey Syndrome
Hypocalcemia, Hypocalcemic seizures, Congenital hypoparathyroidism, Hypocalcemic tetany ORPHA:93324
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Calcinosis, Hypokalemia, Hypocalcemia, Renal artery stenosis, Renal hypoplasia, Hyponatremia, Nep... OMIM:617913
Refractory Celiac Disease
Normocytic anemia, Iron deficiency anemia, Macrocytic anemia, Hypocalcemia, Hypoproteinemia, Incr... ORPHA:398063
Hyperparathyroidism 1
Hypercalcemia, Primary hyperparathyroidism OMIM:145000
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Delayed puberty, Azoospermia, Secondary amenorrhea, Testicular microlithiasis, Decreased circulat... OMIM:228300
Juvenile Nephropathic Cystinosis
Polydipsia, Proximal tubulopathy, Hypophosphatemia, Elevated circulating creatinine concentration... ORPHA:411634
Rhabdoid Tumor
Irritability, Renal neoplasm, Hematuria, Anemia, Lymphadenopathy, Hypercalcemia, Thrombocytopenia... ORPHA:69077
Androgen Insensitivity, Partial
Absent vas deferens, Azoospermia, Infertility, Bifid scrotum, Male pseudohermaphroditism, Cryptor... OMIM:312300
Hypocalciuric Hypercalcemia, Familial, Type Iii
Hypermagnesemia, Pancreatitis, Hypocalciuria, Depression, Parathormone-independent increased rena... OMIM:600740
Neutrophilia, Hereditary
Neutrophilia, Splenomegaly OMIM:162830
Hypocalciuric Hypercalcemia, Familial, Type I
Hypermagnesemia, Pancreatitis, Hypocalciuria, Hypercalciuria, Nephrolithiasis, Parathyroid adenom... OMIM:145980
Spermatogenic Failure 13
Abnormal circulating luteinizing hormone concentration, Male infertility, Abnormal circulating te... OMIM:615841
Thymic Neuroendocrine Tumor
Neoplasm of the endocrine system, Mediastinal lymphadenopathy, Pancreatic islet cell adenoma, Chr... ORPHA:97289
Hemochromatosis, Type 2A
Cirrhosis, Hepatomegaly, Azoospermia, Infertility, Increased circulating iron concentration, Sple... OMIM:602390
Spondyloepiphyseal Dysplasia, Nishimura Type
Hypocalcemia, Hyperphosphatemia, Elevated circulating parathyroid hormone level OMIM:618618
Nephronophthisis 19
Hepatomegaly, Nephronophthisis, Cholestasis, Hepatic fibrosis, Bile duct proliferation, Hyperecho... OMIM:616217
Genetic Recurrent Myoglobinuria
Hyperkalemia, Acute kidney injury, Exercise-induced myoglobinuria, Recurrent myoglobinuria, Hypoc... ORPHA:99845
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Hypoplasia of the uterus, Azoospermia, Decreased circulating follicle stimulating hormone concent... OMIM:614837
Dahlberg-Borer-Newcomer Syndrome
Hypoparathyroidism, Hypocalcemia, Nephropathy, Hypothyroidism, Renal insufficiency ORPHA:1563
Spermatogenic Failure, X-Linked, 4
Male infertility, Azoospermia, Abnormal prolactin level, Elevated circulating follicle stimulatin... OMIM:301077
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Hepatomegaly, Anemia, Splenomegaly, Persistence of hemoglobin F ORPHA:46532
Hemochromatosis, Type 1
Increased circulating ferritin concentration, Hepatomegaly, Cirrhosis, Azoospermia, Hepatocellula... OMIM:235200
Hemoglobin H Disease
HbH hemoglobin, Hepatomegaly, Reduced alpha/beta synthesis ratio, Splenomegaly, Hemolytic anemia OMIM:613978
Hyperparathyroidism, Neonatal Severe
Polydipsia, Polyuria, Calcinosis, Hepatomegaly, Anemia, Elevated circulating parathyroid hormone ... OMIM:239200
Parathyroid Carcinoma
Parathyroid carcinoma, Hypercalcemia, Hyperparathyroidism OMIM:608266
Hypocalcemic Vitamin D-Dependent Rickets
Irritability, Elevated circulating parathyroid hormone level, Hepatomegaly, Hypocalcemic seizures... ORPHA:289157
Xeroderma Pigmentosum, Complementation Group G
Defective DNA repair after ultraviolet radiation damage OMIM:278780
Glycogen Storage Disease Ib
Delayed puberty, Enlarged kidney, Hepatomegaly, Pancreatitis, Decreased glomerular filtration rat... OMIM:232220
Igg4-Related Thyroid Disease
Euthyroid goiter, Sclerosing cholangitis, Sialadenitis, Hypocalcemia, Thyroiditis, Abnormal pitui... ORPHA:64744
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Elevated urinary delta-aminolevulinic acid, Jaundice, Splenomegaly, Nonspherocytic hemolytic anemia OMIM:206400
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hepatomegaly, Anemia, Azoospermia, Hypochromia, Poikilocytosis, Elevated hepatic iron concentrati... OMIM:615234
Hyperbilirubinemia, Shunt, Primary
Hepatomegaly, Jaundice, Hyperbilirubinemia, Anemia of inadequate production, Reticulocytosis, Spl... OMIM:237800
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Irritability, Elevated circulating parathyroid hormone level, Hypocalcemic seizures, Generalized ... OMIM:264700
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Elevated circulating creatine kinase concentration, Decreased fertility, Testicular atrophy, Dysp... OMIM:313200
Pseudohypoparathyroidism Type 1C
Irritability, Decreased response to growth hormone stimulation test, Low urinary cyclic AMP respo... ORPHA:79444
Blue Diaper Syndrome
Elevated circulating thyroid-stimulating hormone concentration, Blue urine, Nephrocalcinosis, Hyp... ORPHA:94086
Hypomagnesemia 3, Renal
Polydipsia, Nephrocalcinosis, Macroscopic hematuria, Stage 5 chronic kidney disease, Elevated cir... OMIM:248250
Ulna Metaphyseal Dysplasia Syndrome
Hypercalcemia OMIM:191420
Cholestasis, Progressive Familial Intrahepatic, 12
Hepatomegaly, Jaundice, Increased serum bile acid concentration, Hyperbilirubinemia, Cholestasis,... OMIM:620010
Autosomal Dominant Hypophosphatemic Rickets
Hypocalcemia, Hyperphosphaturia, Iron deficiency anemia, Hypophosphatemia ORPHA:89937
H Syndrome
Hypertriglyceridemia, Abnormality of the kidney, Enlarged kidney, Delayed puberty, Lymphadenopath... ORPHA:168569
Kaposiform Lymphangiomatosis
Enlarged kidney, Anemia, Abnormality of the lymphatic system, Abnormal spleen morphology, Abnorma... ORPHA:464329
Oculoskeletodental Syndrome
Hypocalcemia, Nephrocalcinosis, Hypercalcemia ORPHA:557003
Beta-Thalassemia
Irritability, Abnormality of iron homeostasis, Hepatomegaly, Anemia, Cholelithiasis, Thrombocytop... ORPHA:848
Hypocalciuric Hypercalcemia, Familial, Type Ii
Hypermagnesemia, Pancreatitis, Hypocalciuria, Parathormone-independent increased renal tubular ca... OMIM:145981
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia
Azoospermia, Decreased circulating follicle stimulating hormone concentration, Decreased circulat... OMIM:614897
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor
Nephroblastoma, Enlarged kidney OMIM:618272
Autosomal Recessive Polycystic Kidney Disease
Polydipsia, Enlarged kidney, Cholestasis, Ascites, Biliary hyperplasia, Splenomegaly, Abnormal in... ORPHA:731
Renal-Hepatic-Pancreatic Dysplasia 2
Enlarged kidney, Hepatomegaly, Cholestasis, Asplenia, Hepatic cysts, Hepatic fibrosis, Malformati... OMIM:615415
47,Xyy Syndrome
Male infertility, Hypospadias, Increased serum testosterone level, Azoospermia, Oligozoospermia, ... ORPHA:8
Ring Chromosome 10 Syndrome
Hypocalcemia, Renal hypoplasia/aplasia ORPHA:1438
Primary Intestinal Lymphangiectasia
Peritoneal effusion, Intestinal lymphangiectasia, Anemia, Hypocalcemia, Decreased proportion of C... ORPHA:90362
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Anorexia, Irritability, Abnormal fear-induced behavior, Hyperactivity, Abnormal aggressive, impul... ORPHA:3077
Mucopolysaccharidosis-Plus Syndrome
Enlarged kidney, Hepatomegaly, Macrovesicular hepatic steatosis, Anemia, Focal segmental glomerul... OMIM:617303
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Enlarged kidney, Ureteral duplication, Hepatomegaly, Macrovesicular hepatic steatosis, Long-chain... OMIM:608836
Tyrosinemia, Type I
Elevated urinary delta-aminolevulinic acid, Enlarged kidney, Hepatomegaly, Hypophosphatemic ricke... OMIM:276700
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Abnormality of the endocrine system, Splenomegaly, Abnormal blood ion concentration, Type I diabe... ORPHA:37042
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Anorexia, Anemia, Hypokalemia, Hypocalcemia, Hypomagnesemia OMIM:175500
Pearson Syndrome
Reticulocytosis, Bone marrow hypocellularity, Splenomegaly, Hypophosphatemia, Dysphagia, Pancreat... ORPHA:699
Splenoportal Vascular Anomalies
Cirrhosis, Anomalous splenoportal venous system, Ascites, Hyperammonemia, Splenomegaly, Hepatic f... OMIM:271500
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Decreased helper T cell proportion, Hypersplenism, Splenomegaly, Pancytopenia OMIM:183350
Small Cell Carcinoma Of The Bladder
Hypercalcemia, Recurrent urinary tract infections, Dysuria, Hematuria ORPHA:284400
X-Linked Agammaglobulinemia
Anemia, Hypocalcemia, Abnormality of the tonsils, Abnormality of the lymphatic system, Thrombocyt... ORPHA:47
Autosomal Dominant Hypocalcemia
Hypercalciuria, Hypocalcemia, Depression, Emotional lability, Hypermagnesiuria, Nephrocalcinosis,... ORPHA:428
Kenny-Caffey Syndrome, Type 1
Hypocalcemia, Anemia, Hypomagnesemia, Congenital hypoparathyroidism OMIM:244460
Timothy Syndrome
Cardiomegaly, Hypothyroidism, Hypocalcemia OMIM:601005
Sanjad-Sakati Syndrome
Hypoparathyroidism, Congenital hypoparathyroidism, Hypoplasia of penis, Hypocalcemia, Hyperphosph... ORPHA:2323
Galactosemia Iii
Hepatomegaly, Jaundice, Galactosuria, Hypergalactosemia, Splenomegaly, Aminoaciduria OMIM:230350
Neonatal Severe Primary Hyperparathyroidism
Abnormal circulating calcium-phosphate regulating hormone concentration, Hepatomegaly, Splenomega... ORPHA:417
Red Cell Phospholipid Defect With Hemolysis
Hyperbilirubinemia, Intermittent jaundice, Splenomegaly, Reticulocytosis OMIM:179700
Cholera
Acute kidney injury, Irritability, Hypokalemia, Hypocalcemia, Hyponatremia, Abnormality of renal ... ORPHA:173
Adamantinoma
Hypercalcemia ORPHA:55881
Colchicine Poisoning
Abnormal blood ion concentration, Hypokalemia, Hypocalcemia, Leukocytosis, Hyponatremia, Hypomagn... ORPHA:31824
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Chronic hemolytic anemia, Anemia, Reduced red cell pyruvate kinase level, Unconjugated hyperbilir... ORPHA:766
Glycogen Storage Disease Ia
Delayed puberty, Enlarged kidney, Hepatomegaly, Pancreatitis, Decreased glomerular filtration rat... OMIM:232200
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome
Hyperprostaglandinuria, Hypercalciuria, Hypocalcemia, Abnormal renal tubular resorption, Hypermag... ORPHA:73224
Igg4-Related Kidney Disease
Enlarged kidney, Sclerosing cholangitis, Elevated circulating creatinine concentration, Cholecyst... ORPHA:449395
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Cirrhosis, Hepatomegaly, Jaundice, Anemia, Hypochromia, Elevated hepatic iron concentration, Anis... OMIM:616860
Cholestasis, Progressive Familial Intrahepatic, 10
Hepatomegaly, Jaundice, Increased serum bile acid concentration, Portal fibrosis, Increased total... OMIM:619868
Amyloidosis, Familial Visceral
Hepatomegaly, Hematuria, Cholestasis, Nephrotic syndrome, Splenomegaly, Proteinuria, Renal amyloi... OMIM:105200
Osteopetrosis, Autosomal Recessive 1
Hepatomegaly, Anemia, Pancytopenia, Hypocalcemia, Thrombocytopenia, Splenomegaly OMIM:259700
Osteopetrosis, Autosomal Recessive 5
Irritability, Hepatomegaly, Anemia, Hypochromic microcytic anemia, Pancytopenia, Hypocalcemia, Hy... OMIM:259720
Neuroleptic Malignant Syndrome
Hyperkalemia, Acute kidney injury, Agitation, Urinary incontinence, Hyperuricemia, Hypocalcemia, ... ORPHA:94093
Hypocalcemic Vitamin D-Resistant Rickets
Hypocalcemia, Hypophosphatemia, Nephrolithiasis, Hyperparathyroidism ORPHA:93160
Beckwith-Wiedemann Syndrome
Enlarged kidney, Hepatomegaly, Adrenocortical carcinoma, Renal cortical cysts, Vesicoureteral ref... OMIM:130650
Hemoglobin D Disease
Anemia, HbS hemoglobin, Reduced alpha/beta synthesis ratio, Sickled erythrocytes, Decreased mean ... ORPHA:90039
Bilateral Parasagittal Parieto-Occipital Polymicrogyria
Pseudobulbar paralysis, Abnormal fear-induced behavior, Aggressive behavior ORPHA:208441
Congenital Disorder Of Glycosylation, Type Ig
Hypospadias, Hypocalcemia, Small scrotum, Cryptorchidism, Micropenis OMIM:607143
Persistent Polyclonal B-Cell Lymphocytosis
Lymphocytosis, Hepatomegaly, Splenomegaly OMIM:606445
Hyperparathyroidism-Jaw Tumor Syndrome
Polydipsia, Thyroid carcinoma, Elevated circulating parathyroid hormone level, Pancreatitis, Test... ORPHA:99880
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Unilateral renal agenesis, Azoospermia, Decreased circulating follicle stimulating hormone concen... OMIM:308700
Coproporphyria, Hereditary
Elevated urinary delta-aminolevulinic acid, Hepatomegaly, Jaundice, Increased urinary porphobilin... OMIM:121300
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3
Polydipsia, Polyuria, Elevated circulating parathyroid hormone level, Nephrolithiasis, Parathyroi... OMIM:617994
Hypertriglyceridemia, Transient Infantile
Hypertriglyceridemia, Hepatomegaly, Splenomegaly, Hepatic fibrosis, Hepatic steatosis OMIM:614480
Kallmann Syndrome With Spastic Paraplegia
Unilateral renal agenesis, Decreased circulating follicle stimulating hormone concentration, Decr... OMIM:308750
Pseudohypoparathyroidism Type 1A
Irritability, Decreased response to growth hormone stimulation test, Low urinary cyclic AMP respo... ORPHA:79443
Albers-Schönberg Osteopetrosis
Hypocalcemia, Abnormal leukocyte morphology, Anemia ORPHA:53
Beta-Thalassemia, Dominant Inclusion Body Type
Hepatomegaly, Decreased mean corpuscular hemoglobin concentration, Persistence of hemoglobin F, E... OMIM:603902
Parathyroid Carcinoma
Polydipsia, Parathyroid carcinoma, Thyroid carcinoma, Elevated circulating parathyroid hormone le... ORPHA:143
Lethal Hemolytic Anemia-Genital Anomalies Syndrome
Renal hypoplasia/aplasia, Anemia, Hypospadias, Hypoplasia of penis, Ascites, Abnormality of the u... ORPHA:1046
Erythroleukemia, Familial, Susceptibility To
Hepatomegaly, Anemia, Acute myeloid leukemia, Thrombocytopenia, Splenomegaly, Erythroid hyperplas... OMIM:133180
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia
Cryptorchidism, Oligozoospermia OMIM:314300
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Anorexia, Lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:86893
Tyrosinemia Type 1
Hepatomegaly, Hepatocellular carcinoma, Splenomegaly, Generalized aminoaciduria ORPHA:882
Glut1 Deficiency Syndrome 2
Irritability, Reduced haptoglobin level, Reticulocytosis, Splenomegaly, Hemolytic anemia OMIM:612126
Uremic Pruritus
Hypermagnesemia, Depression, Increased blood urea nitrogen, Hypercalcemia, Chronic kidney disease... ORPHA:94059
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hypertriglyceridemia, Delayed puberty, Enlarged kidney, Hepatocellular adenoma, Tubulointerstitia... ORPHA:79259
Generalized Pustular Psoriasis
Elevated circulating C-reactive protein concentration, Hypocalcemia, Leukocytosis, Hyponatremia, ... ORPHA:247353
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hypertriglyceridemia, Hepatomegaly, Jaundice, Hemophagocytosis, Anemia, Lymphadenopathy, Thromboc... OMIM:603552
Bile Acid Synthesis Defect, Congenital, 5
Hepatomegaly, Increased total iron binding capacity, Increased serum bile acid concentration, Jau... OMIM:616278
Niemann-Pick Disease, Type B
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hepatomegaly, Sea-blue histiocytos... OMIM:607616
Gitelman Syndrome
Polydipsia, Delayed puberty, Neoplasm of the pancreas, Urinary incontinence, Renal potassium wast... ORPHA:358
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Autoimmune hemolytic anemia, Lymphadenopathy, Splenomegaly, Lymphopenia, Autoimmune thrombocytope... ORPHA:444463
Pituitary Dermoid And Epidermoid Cysts
Enlarged pituitary gland, Anterior hypopituitarism, Oligozoospermia, Panhypopituitarism, Hyperpit... ORPHA:91351
Immunodeficiency 16
Coombs-positive hemolytic anemia, Splenomegaly, Pancytopenia OMIM:615593
Acrocephalopolydactylous Dysplasia
Enlarged kidney, Hepatomegaly, Ascites, Polysplenia, Hepatic fibrosis, Pancreatic fibrosis, Cysti... OMIM:200995
Partial Androgen Insensitivity Syndrome
Clitoral hypertrophy, Increased circulating antimullerian hormone concentration, Aplasia of the u... ORPHA:90797
Hemihyperplasia-Multiple Lipomatosis Syndrome
Enlarged kidney, Abnormality of the lymphatic system, Nephroblastoma, Ovarian serous cystadenoma,... ORPHA:276280
Celiac Disease, Susceptibility To, 1
Delayed puberty, Iron deficiency anemia, Macrocytic anemia, Hypocalcemia, Depression, Thyroiditis... OMIM:212750
Normosmic Congenital Hypogonadotropic Hypogonadism
Delayed puberty, Increased female libido, Absence of secondary sex characteristics, Hypoplasia of... ORPHA:432
Congenital Disorder Of Glycosylation, Type Iio
Cholestatic liver disease, Cirrhosis, Hepatomegaly, Decreased circulating ceruloplasmin concentra... OMIM:616828
Immunodeficiency 69
Anemia, Hemophagocytosis, Thrombocytosis, Pancytopenia, Leukocytosis, Hepatosplenomegaly, Splenom... OMIM:618963
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Thrombocytopenia, Anemia, Splenomegaly, Abnormal hemoglobin ORPHA:231393
Diaphanospondylodysostosis
Enlarged kidney, Abnormal liver lobulation, Nephroblastomatosis, Nephrogenic rest, Horseshoe kidn... OMIM:608022
46,Xy Partial Gonadal Dysgenesis
Delayed puberty, Abnormal labia morphology, Testicular gonadoblastoma, Gonadal dysgenesis, Clitor... ORPHA:251510
Immunodeficiency 42
Splenomegaly, Hepatomegaly, Hypoplasia of the thymus OMIM:616622
Mu-Heavy Chain Disease
Hepatomegaly, Anemia, Bence Jones Proteinuria, Lymphadenopathy, Splenomegaly, Abnormal B cell cou... ORPHA:100024
Hemolytic Disease Of Fetus And Newborn, Rh-Induced
Fetal ascites, Hepatomegaly, Splenomegaly OMIM:619462
Ethylene Glycol Poisoning
Hyperkalemia, Renal tubular epithelial necrosis, Hematuria, Decreased urine output, Hypocalcemia,... ORPHA:31826
Symptomatic Form Of Hfe-Related Hemochromatosis
Increased circulating ferritin concentration, Hepatomegaly, Abnormality of iron homeostasis, Cirr... ORPHA:465508
46,Xx Sex Reversal 2
Hypoplasia of the uterus, Ovotestis, Azoospermia, Infertility, Bifid scrotum, Decreased serum tes... OMIM:278850
Endocrine-Cerebroosteodysplasia
Enlarged kidney, Hypospadias, Adrenal hypoplasia, Microphallus, Hyperechogenic kidneys, Small scr... OMIM:612651
Hypophosphatasia, Infantile
Anorexia, Irritability, Anemia, Hypercalciuria, Elevated plasma pyrophosphate, Elevated urine pyr... OMIM:241500
Pseudohypoparathyroidism, Type Ia
Elevated circulating parathyroid hormone level, Low urinary cyclic AMP response to PTH administra... OMIM:103580
Hypophosphatasia
Irritability, Hypercalcemia, Anemia ORPHA:436
Velocardiofacial Syndrome
Hypoparathyroidism, Hypocalcemia, Emotional lability, Cryptorchidism, Aggressive behavior OMIM:192430
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Jaundice, Hypocalcemia, Hypoproteinemia, Elevated circulating creatine kinase conce... ORPHA:26793
Liver Disease, Severe Congenital
Lymphocytosis, Hypoproteinemia, Ascites, Biliary hyperplasia, Hyperammonemia, Leukopenia, Splenom... OMIM:619991
Autoimmune Lymphoproliferative Syndrome, Type Iii
Autoimmune hemolytic anemia, Hepatomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Elevated... OMIM:615559
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Hypocalcemia, Hypophosphatemia OMIM:600081
Addison Disease
Delayed puberty, Decreased circulating cortisol level, Type I diabetes mellitus, Decreased female... ORPHA:85138
Hypophosphatemic Rickets And Hyperparathyroidism
Elevated circulating parathyroid hormone level, Hypophosphatemic rickets, Renal phosphate wasting... OMIM:612089
Harderoporphyria
Hepatomegaly, Increased urine harderoporphyrin level, Red urine, Increased urinary porphobilinoge... OMIM:618892
Bacterial Toxic-Shock Syndrome
Increased circulating metamyelocyte count, Hypocalcemia, Recurrent urinary tract infections, Incr... ORPHA:36234
Cholestasis-Lymphedema Syndrome
Cirrhosis, Hepatomegaly, Jaundice, Hyperlipidemia, Splenomegaly, Conjugated hyperbilirubinemia, N... OMIM:214900
Autoinflammation With Episodic Fever And Lymphadenopathy
Hepatomegaly, Lymphadenopathy, Recurrent tonsillitis, Splenomegaly, Microcytic anemia OMIM:618852
Anemia, Congenital Dyserythropoietic, Type Ii
Jaundice, Cholelithiasis, Anemia of inadequate production, Reticulocytosis, Splenomegaly OMIM:224100
Mitochondrial Trifunctional Protein Deficiency
Hypoparathyroidism, Hypocalcemia, Cholestasis, Left ventricular hypertrophy, Diffuse hepatic stea... ORPHA:746
Immunodeficiency 27A
Anorexia, Anemia, Lymphadenopathy, Leukocytosis, Hepatosplenomegaly, Splenomegaly, Enlarged mesen... OMIM:209950
Hemoglobin C-Beta-Thalassemia Syndrome
Anemia, Microcytic anemia, Splenomegaly, Abnormal hemoglobin ORPHA:231242
Double Outlet Right Ventricle
Hypocalcemia, Aplasia/Hypoplasia of the thymus, Hypoparathyroidism ORPHA:3426
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Hypertriglyceridemia, Anemia, Acute myeloid leukemia, Elevated circulating C-reactive protein con... ORPHA:158057
Gray Platelet Syndrome
Thrombocytopenia, Splenomegaly, Abnormality of the menstrual cycle ORPHA:721
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Irritability, Hepatomegaly, Emotional lability, Decreased testicular size, Splenomegaly, Hypogona... OMIM:201100
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1
Calcinosis, Increased renal tubular phosphate reabsorption, Nephrocalcinosis, Hypercalcemia, Hype... OMIM:211900
Cholesteryl Ester Storage Disease
Hypertriglyceridemia, Cirrhosis, Hepatomegaly, Jaundice, Splenomegaly, Adrenal calcification, Hyp... ORPHA:75234
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Anemia, Hypospadias, Hypocalcemia, Hyperbilirubinemia, Hydronephrosis, Thrombocytopenia, Absent g... ORPHA:163979
Oncogenic Osteomalacia
Hypocalcemia, Hyperphosphaturia, Hypophosphatemia, Renal phosphate wasting ORPHA:352540
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hypertriglyceridemia, Anemia, Lymphadenopathy, Hemophagocytosis, Hepatosplenomegaly, Splenomegaly... OMIM:613101
Hyperparathyroidism, Transient Neonatal
Enlarged kidney, Unilateral renal agenesis, Splenic cyst, Ovarian cyst, Hyperparathyroidism OMIM:618188
X-Linked Sideroblastic Anemia
Abnormality of iron homeostasis, Anemia, Splenomegaly ORPHA:75563
Wolfram Syndrome 1
Hydroureter, Diabetes insipidus, Neurogenic bladder, Megaloblastic anemia, Hypothyroidism, Sidero... OMIM:222300
Non-Functioning Paraganglioma
Hematuria, Elevated urinary epinephrine level, Elevated urinary norepinephrine level, Paraganglio... ORPHA:94080
Craniofacioskeletal Syndrome
Hypospadias, Hypocalcemia, Hydronephrosis, Absent gallbladder, Cryptorchidism OMIM:300712
Multiple Endocrine Neoplasia Type 4
Abnormality of the endocrine system, Pituitary growth hormone cell adenoma, Pulmonary carcinoid t... ORPHA:276152
Porphyria Due To Ala Dehydratase Deficiency
Agitation, Increased erythrocyte protoporphyrin concentration, Abnormal fear-induced behavior, In... ORPHA:100924
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Enlarged kidney, Hydronephrosis, Urethral atresia OMIM:314390
Hypereosinophilic Syndrome, Idiopathic
Eosinophilia, Hepatomegaly, Myeloproliferative disorder, Splenomegaly OMIM:607685
Kenny-Caffey Syndrome, Type 2
Hypoparathyroidism, Anemia, Transient hypophosphatemia, Hypocalcemia, Hyperphosphatemia OMIM:127000
Osteopetrosis With Renal Tubular Acidosis
Hepatomegaly, Anemia, Renal tubular acidosis, Hypocalcemia, Pancytopenia, Nephrolithiasis, Elevat... ORPHA:2785
Generalized Glucocorticoid Resistance Syndrome
Abnormal circulating testosterone concentration, Infertility, Oligozoospermia, Increased urinary ... ORPHA:786
Beckwith-Wiedemann Syndrome
Enlarged kidney, Ureteral duplication, Splenomegaly, Multiple renal cysts, Cardiomegaly, Abnormal... ORPHA:116
Lesch-Nyhan Syndrome
Hyperuricemia, Megaloblastic anemia, Nephrolithiasis, Nephrocalcinosis, Dysphagia, Self-injurious... OMIM:300322
Beta-Thalassemia Intermedia
Proximal tubulopathy, Anemia of inadequate production, Splenomegaly, Hypogonadism, Decreased mean... ORPHA:231222
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Normocytic anemia, Jaundice, Cholelithiasis, Normochromic anemia, Hyperbilirubinemia, Nonspherocy... OMIM:235700
Vipoma
Neoplasm of the pancreas, Normochromic anemia, Ascites, Pituitary adenoma, Parathyroid adenoma, N... ORPHA:97282
Hennekam Syndrome
Ectopic kidney, Lymphadenopathy, Hypocalcemia, Ascites, Lymphangioma, Splenomegaly, Pulmonary lym... ORPHA:2136
Glucose-Galactose Malabsorption
Hematuria, Nephrolithiasis, Hypernatremia, Hypercalcemia, Renal insufficiency ORPHA:35710
Xeroderma Pigmentosum, Complementation Group F
Deficient excision of UV-induced pyrimidine dimers in DNA, Defective DNA repair after ultraviolet... OMIM:278760
Acute Adrenal Insufficiency
Renal salt wasting, Hyperkalemia, Normocytic anemia, Anorexia, Delayed puberty, Hyperuricemia, De... ORPHA:95409
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Enlarged kidney, Polycystic kidney dysplasia, Renal dysplasia, Ambiguous genitalia, Micropenis OMIM:613091
Leprechaunism
Clitoral hypertrophy, Enlarged kidney, Hepatomegaly, Hyperinsulinemia, Hypokalemia, Long penis, H... ORPHA:508
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Enlarged kidney, Anemia, Nephrotic syndrome, Bone marrow hypocellularity, Hepatosplenomegaly, Pro... ORPHA:505248
Meacham Syndrome
Blind vagina, Enlarged kidney, Accessory spleen, Bicornuate uterus, Male pseudohermaphroditism, S... OMIM:608978
Sea-Blue Histiocyte Disease
Cirrhosis, Sea-blue histiocytosis, Thrombocytopenia, Splenomegaly OMIM:269600
46,Xx Sex Reversal 1
Clitoral hypertrophy, Ovotestis, Hypospadias, Azoospermia, Bicornuate uterus, True hermaphroditis... OMIM:400045
Mast Cell Sarcoma
Hepatomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Mastocytosis, Splenomegaly ORPHA:66661
Myotonic Dystrophy 1
Obsessive-compulsive trait, Cholelithiasis, Dysphagia, Hypogonadism, Testicular atrophy OMIM:160900
Glycosylphosphatidylinositol Biosynthesis Defect 1
Portal vein thrombosis, Hepatomegaly, Splenomegaly, Portal hypertension OMIM:610293
Late-Onset Isolated Acth Deficiency
Anorexia, Normocytic anemia, Premature ovarian insufficiency, Hypoparathyroidism, Macrocytic anem... ORPHA:199299
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Anorexia, Hepatomegaly, Pancreatitis, Anemia, Hyperammonemia, Thrombocytopenia, Splenomegaly, Ren... ORPHA:79312
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Hypocalcemia, Inappropriate laughter OMIM:618476
Ppoma
Anorexia, Neoplasm of the pancreas, Increased circulating gonadotropin level, Hepatomegaly, Chole... ORPHA:97278
22Q11.2 Deletion Syndrome
Hypoparathyroidism, Hypospadias, Cholelithiasis, Hypocalcemia, Polycystic kidney dysplasia, Abnor... ORPHA:567
Alg9-Cdg
Irritability, Enlarged kidney, Hepatomegaly, Periportal fibrosis, Hypoplasia of the ovary, Hypopl... ORPHA:79328
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency
Acute kidney injury, Exercise-induced myoglobinuria, Elevated creatine kinase after exercise, Hyp... ORPHA:284426
Ras-Associated Autoimmune Leukoproliferative Disorder
Hepatomegaly, Pancytopenia, Lymphocytosis, Splenomegaly, Hemolytic anemia, Autoimmune thrombocyto... OMIM:614470
Digeorge Syndrome
Anemia, Unilateral renal agenesis, Cholelithiasis, Hypocalcemia, Hypoplasia of the thymus, Attent... OMIM:188400
Familial Hypocalciuric Hypercalcemia
Hypermagnesemia, Hypocalcemic seizures, Pancreatitis, Hypomagnesiuria, Hypocalciuria, Reduced rat... ORPHA:405
Fanconi Anemia, Complementation Group A
Male infertility, Deficient excision of UV-induced pyrimidine dimers in DNA, Hypergonadotropic hy... OMIM:227650
Pyruvate Kinase Deficiency Of Red Cells
Hepatomegaly, Reduced haptoglobin level, Jaundice, Cholelithiasis, Chronic hemolytic anemia, Redu... OMIM:266200
Cardiac-Urogenital Syndrome
Enlarged kidney, Penoscrotal hypospadias, Accessory spleen, Aplasia of the uterus, Bifid scrotum,... OMIM:618280
Somatostatinoma
Neoplasm of the pancreas, Ascites, Pituitary adenoma, Parathyroid adenoma, Medullary thyroid carc... ORPHA:97283
Cholestasis, Progressive Familial Intrahepatic, 3
Cirrhosis, Hepatomegaly, Intrahepatic cholestasis, Increased serum bile acid concentration, Jaund... OMIM:602347
Infection-Related Hemolytic Uremic Syndrome
Hyperkalemia, Acute kidney injury, Pancreatitis, Hypocalcemia, Anuria, Nephrotic range proteinuri... ORPHA:544482
Cryohydrocytosis
Reticulocytosis, Splenomegaly, Stomatocytosis, Hemolytic anemia, Pseudohyperkalemia OMIM:185020
Alpha-1-Antitrypsin Deficiency
Reduced circulating alpha-1-antitrypsin concentration, Cirrhosis, Hepatocellular carcinoma, Splen... OMIM:613490
Portal Hypertension, Noncirrhotic, 1
Hepatomegaly, Splenomegaly, Portal hypertension OMIM:617068
Spherocytosis, Type 1
Jaundice, Cholelithiasis, Hyperbilirubinemia, Spherocytosis, Reticulocytosis, Splenomegaly, Hemol... OMIM:182900
Helsmoortel-Van Der Aa Syndrome
Irritability, Decreased response to growth hormone stimulation test, Enlarged kidney, Bruxism, Re... OMIM:615873
Pheochromocytoma--Islet Cell Tumor Syndrome
Hypercalcemia, Pheochromocytoma, Elevated urinary norepinephrine level, Proteinuria OMIM:171420
Cholestasis-Lymphedema Syndrome
Cirrhosis, Hepatomegaly, Jaundice, Abnormality of the lymphatic system, Hyperlipidemia, Portal hy... ORPHA:1414
Infantile Myofibromatosis
Abnormality of the kidney, Neoplasm of the pancreas, Hypercalcemia ORPHA:2591
Lead Poisoning
Delayed puberty, Decreased male libido, Infertility, Oligozoospermia, Reduced sperm motility, Abn... ORPHA:330015
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Ambiguous genitalia, male, Clitoral hypertrophy, Increased circulating androstenedione concentrat... ORPHA:90791
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hypertriglyceridemia, Irritability, Decreased HDL cholesterol concentration, Hepatomegaly, Jaundi... OMIM:267700
Sporadic Pheochromocytoma/Secreting Paraganglioma
Hematuria, Glomerular sclerosis, Adrenal pheochromocytoma, Elevated urinary epinephrine level, El... ORPHA:276621
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Hepatomegaly, Lymphadenopathy, Decreased proportion of class-switched memory B cells, Thyroiditis... OMIM:619375
Multiple Myeloma
Acute kidney injury, Anemia, Lymphadenopathy, Abnormality of the bladder, Nephrotic syndrome, Hyp... ORPHA:29073
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Hypochromic microcytic anemia, HbS hemoglobin, Splenic infarction, Persistence of hemoglobin F, R... ORPHA:251380
Grfoma
Neoplasm of the pancreas, Pheochromocytoma, Ascites, Pituitary adenoma, Parathyroid adenoma, Incr... ORPHA:97261
Anemia, Congenital Dyserythropoietic, Type Iv
Anemia of inadequate production, Unconjugated hyperbilirubinemia, Reticulocytosis, Circulating nu... OMIM:613673
Lymphoid Interstitial Pneumonia
Enlarged kidney, Hepatomegaly, Mediastinal lymphadenopathy ORPHA:79128
Ornithine Transcarbamylase Deficiency
Aminoaciduria, Splenomegaly, Hyperammonemia ORPHA:664
Anemia, Congenital Dyserythropoietic, Type Ib
Jaundice, Hepatomegaly, Anemia, Anemia of inadequate production, Reticulocytosis, Poikilocytosis,... OMIM:615631
Ogden Syndrome
Irritability, Enlarged kidney, Jaundice, Macrovesicular hepatic steatosis, Iron deficiency anemia... OMIM:300855
Glycogen Storage Disease Ixa1
Hypertriglyceridemia, Hepatomegaly, Hyperuricemia, Splenomegaly, Hypercholesterolemia OMIM:306000
Leishmaniasis
Anorexia, Hepatomegaly, Anemia, Lymphadenopathy, Pancytopenia, Abnormal macrophage morphology, Le... ORPHA:507
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Hair-pulling, Nail-biting, Hypocalcemia, Emotional lability, Polyphagia, Fixated interests, Atten... OMIM:620330
Fanconi Anemia, Complementation Group E
Chromosomal breakage induced by crosslinking agents, Deficient excision of UV-induced pyrimidine ... OMIM:600901
Rajab Interstitial Lung Disease With Brain Calcifications 1
Cirrhosis, Anemia, Pancytopenia, Hypocalcemia, Recurrent urinary tract infections, Cholestasis, A... OMIM:613658
Glucagonoma
Neoplasm of the pancreas, Normochromic anemia, Ascites, Pituitary adenoma, Parathyroid adenoma, A... ORPHA:97280
Dehydrated Hereditary Stomatocytosis 2
Anisopoikilocytosis, Hepatomegaly, Jaundice, Increased mean corpuscular hemoglobin concentration,... OMIM:616689
Bartter Syndrome, Type 1, Antenatal
Renal salt wasting, Polyuria, Hyperchloriduria, Hyperprostaglandinuria, Hypokalemia, Renal potass... OMIM:601678
Gaucher Disease Type 1
Delayed puberty, Decreased HDL cholesterol concentration, Ascites, Leukopenia, Splenomegaly, Anor... ORPHA:77259
Metaphyseal Chondrodysplasia, Jansen Type
Hypoparathyroidism, Hypercalciuria, Hyperphosphaturia, Nephrocalcinosis, Hypercalcemia, Hypophosp... OMIM:156400
Glycogen Storage Disease Ixb
Hepatomegaly, Splenomegaly, Increased hepatic glycogen content, Hyperuricemia OMIM:261750
Myotonic Dystrophy 2
Type II diabetes mellitus, Oligozoospermia, Elevated circulating follicle stimulating hormone lev... OMIM:602668
Dyskeratosis Congenita, Autosomal Recessive 2
Cirrhosis, Pancytopenia, Bone marrow hypocellularity, Thrombocytopenia, Testicular atrophy OMIM:613987
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Hepatomegaly, Jaundice, Cholelithiasis, Increased mean corpuscular hemoglobin concentration, Incr... OMIM:194380
Cholesteryl Ester Storage Disease
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Leukopenia, Splenomegaly, Hepatic ... OMIM:278000
Dehydrated Hereditary Stomatocytosis
Cholelithiasis, Macrocytic anemia, Increased mean corpuscular hemoglobin concentration, Increased... ORPHA:3202
Acquired Idiopathic Sideroblastic Anemia
Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Normochromic anemia, Pancytopenia, Anemi... ORPHA:75564
Cartilage-Hair Hypoplasia
Hepatomegaly, Anemia, Hypocalcemia, Mucopolysacchariduria, Abnormality of the pancreas, Neutropenia ORPHA:175
Hereditary Pheochromocytoma-Paraganglioma
Hematuria, Glomerular sclerosis, Adrenal pheochromocytoma, Elevated urinary epinephrine level, El... ORPHA:29072
T-Cell Immunodeficiency With Thymic Aplasia
Lymphadenopathy, Recurrent urinary tract infections, Thyroiditis, Decreased proportion of naive T... ORPHA:83471
Wilson Disease
Cirrhosis, Jaundice, Hepatomegaly, Anemia, Acute hepatitis, Depression, Hepatitis, Thrombocytopen... ORPHA:905
Mucolipidosis Ii Alpha/Beta
Enlarged kidney, Hepatomegaly, Increased serum beta-hexosaminidase, Mucopolysacchariduria, Spleno... OMIM:252500
Fish-Eye Disease
Lymphadenopathy, Decreased HDL cholesterol concentration, Hepatomegaly, Splenomegaly ORPHA:79292
Multiple Endocrine Neoplasia, Type I
Adenoma sebaceum, Glucagonoma, Adrenocortical adenoma, Pancreatic islet cell adenoma, Pituitary p... OMIM:131100
Alpha-Thalassemia-Myelodysplastic Syndrome
Acute leukemia, HbH hemoglobin, Thrombocytopenia, Splenomegaly, Microcytic anemia, Neutropenia ORPHA:231401
Charge Syndrome
Delayed puberty, Self-mutilation, Dysphagia, Lymphopenia, Decreased response to growth hormone st... OMIM:214800
Cranioectodermal Dysplasia 1
Hepatomegaly, Hypocalcemia, Stage 1 chronic kidney disease, Hepatic fibrosis, Chronic kidney dise... OMIM:218330
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Small pituitary gland, Thyroid hypoplasia, Cholestasis, Impulsivity, Unicornuate uterus, Dysphagi... OMIM:619503
Autosomal Recessive Malignant Osteopetrosis
Hepatomegaly, Anemia, Lymphadenopathy, Hypocalcemia, Hypophosphatemia, Splenomegaly ORPHA:667
Osteopetrosis, Autosomal Dominant 3
Hepatomegaly, Anemia, Splenomegaly, Hyperparathyroidism OMIM:618107
Hepatoportal Sclerosis
Abnormal liver parenchyma morphology, Jaundice, Anemia, Periportal fibrosis, Hyperbilirubinemia, ... ORPHA:64743
Hemoglobin E Disease
Hypochromic microcytic anemia, Increased red blood cell count, Drug-sensitive hemolytic anemia, A... ORPHA:2133
Spherocytosis, Type 4
Jaundice, Hyperbilirubinemia, Spherocytosis, Reticulocytosis, Splenomegaly, Hemolytic anemia OMIM:612653
Pparg-Related Familial Partial Lipodystrophy
Hypertriglyceridemia, Cirrhosis, Hepatomegaly, Pancreatitis, Maternal diabetes, Hyperuricemia, Se... ORPHA:79083
Tafro Syndrome
Hepatomegaly, Anemia, Lymphadenopathy, Elevated circulating C-reactive protein concentration, Asc... ORPHA:457077
Autosomal Dominant Kenny-Caffey Syndrome
Hypocalcemic seizures, Anemia, Congenital hypoparathyroidism, Abnormal circulating follicle-stimu... ORPHA:93325
Primary Myelofibrosis
Anorexia, Hepatomegaly, Anemia, Thrombocytosis, Lymphadenopathy, Pancytopenia, Leukocytosis, Port... ORPHA:824
Sclerosing Cholangitis, Neonatal
Cirrhosis, Hepatomegaly, Portal fibrosis, Jaundice, Sclerosing cholangitis, Acholic stools, Vesic... OMIM:617394
Testicular Germ Cell Tumor
Azoospermia OMIM:273300
Erythrocytosis, Familial, 8
Reduced erythrocyte bisphosphoglycerate mutase activity, Polycythemia, Increased circulating hemo... OMIM:222800
Sickle Cell Disease
Hepatomegaly, Hematuria, Jaundice, Cholelithiasis, Leukocytosis, Splenic infarction, Target cells... OMIM:603903
Johanson-Blizzard Syndrome
Clitoral hypertrophy, Primary hypothyroidism, Ascites, Urethrovaginal fistula, Splenomegaly, Sept... OMIM:243800
Dominant Beta-Thalassemia
Delayed puberty, Splenomegaly, Decreased mean corpuscular volume, Adrenal insufficiency, Irritabi... ORPHA:231226
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hypertriglyceridemia, Irritability, Hepatomegaly, Jaundice, Hemophagocytosis, Anemia, Pancytopeni... OMIM:603553
Bone Marrow Failure Syndrome 5
Anemia, Erythroid hypoplasia, Pure red cell aplasia, Hypogonadism, Testicular atrophy OMIM:618165
Griscelli Syndrome Type 2
Jaundice, Hepatomegaly, Lymphadenopathy, Hemophagocytosis, Pancytopenia, Hyperlipidemia, Splenome... ORPHA:79477
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Urinary incontinence, Compulsive behaviors, Hypercalcemia, Motor stereotypy, Attention deficit hy... ORPHA:476126
Cholestasis, Progressive Familial Intrahepatic, 9
Intrahepatic cholestasis, Hepatomegaly, Jaundice, Fibro-obliterative bile-duct lesion, Portal hyp... OMIM:619849
Multiple Endocrine Neoplasia Type 1
Adrenocortical abnormality, Neoplasm of the pancreas, Amenorrhea, Pheochromocytoma, Pituitary gro... ORPHA:652
Spherocytosis, Type 2
Jaundice, Hyperbilirubinemia, Spherocytosis, Reticulocytosis, Splenomegaly, Acanthocytosis, Hemol... OMIM:616649
Hereditary Amyloidosis With Primary Renal Involvement
Male infertility, Primary testicular failure, Oligozoospermia, Abnormal testis morphology, Hypogo... ORPHA:85450
Fanconi Anemia, Complementation Group C
Chromosomal breakage induced by crosslinking agents, Deficient excision of UV-induced pyrimidine ... OMIM:227645
Multiple Endocrine Neoplasia Type 2
Elevated circulating parathyroid hormone level, Elevated urinary catecholamine level, Elevated ur... ORPHA:653
Cholestasis, Progressive Familial Intrahepatic, 1
Cirrhosis, Hepatomegaly, Jaundice, Cholelithiasis, Intrahepatic cholestasis with episodic jaundic... OMIM:211600
Thrombocythemia 1
Thrombocytosis, Splenomegaly OMIM:187950
Beta-Thalassemia Major
Delayed puberty, Anemia of inadequate production, Splenomegaly, Decreased mean corpuscular volume... ORPHA:231214
Apolipoprotein C-Ii Deficiency
Hypertriglyceridemia, Hepatomegaly, Pancreatitis, Increased circulating chylomicron concentration... OMIM:207750
Lymphoproliferative Syndrome 1
Autoimmune hemolytic anemia, Hepatomegaly, Anemia, Hemophagocytosis, Elevated circulating C-react... OMIM:613011
Caroli Disease
Anorexia, Cirrhosis, Hepatomegaly, Jaundice, Intrahepatic cholestasis, Cholelithiasis, Cholangiti... ORPHA:53035
Heterotaxy, Visceral, 1, X-Linked
Enlarged kidney, Hepatomegaly, Biliary atresia, Polysplenia, Asplenia, Renal agenesis, Cardiomega... OMIM:306955
Pheochromocytoma
Pheochromocytoma, Elevated urinary norepinephrine level, Renal artery stenosis, Hypercalcemia, Pr... OMIM:171300
Autoimmune Lymphoproliferative Syndrome, Type Iia
Autoimmune hemolytic anemia, Hepatomegaly, Iron deficiency anemia, Lymphadenopathy, Neutropenia i... OMIM:603909
Leukocyte Adhesion Deficiency, Type Iii
Hepatomegaly, Anemia, Abnormal lymph node morphology, Leukocytosis, Hepatosplenomegaly, Splenomeg... OMIM:612840
Zollinger-Ellison Syndrome
Glucagonoma, Jaundice, Neuroendocrine neoplasm, Elevated circulating parathyroid hormone level, A... ORPHA:913
Xfe Progeroid Syndrome
Defective DNA repair after ultraviolet radiation damage, Premature ovarian insufficiency OMIM:610965
Spherocytosis, Type 5
Jaundice, Abnormal platelet count, Spherocytosis, Reticulocytosis, Splenomegaly, Hemolytic anemia... OMIM:612690
Glycogen Storage Disease Ixc
Hypertriglyceridemia, Cirrhosis, Hepatomegaly, Increased hepatic glycogen content, Bile duct prol... OMIM:613027
Cholestasis, Progressive Familial Intrahepatic, 2
Cirrhosis, Intrahepatic cholestasis, Hepatomegaly, Hepatocellular carcinoma, Intermittent jaundic... OMIM:601847
Exercise-Induced Malignant Hyperthermia
Hyperkalemia, Acute kidney injury, Hypocalcemia, Elevated circulating creatine kinase concentrati... ORPHA:466650
Gapo Syndrome
Amenorrhea, Dysmenorrhea, Oligozoospermia, Hypogonadism ORPHA:2067
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Jaundice, Cholelithiasis, Spontaneous hemolytic crises, Nonspherocytic hemolytic anemia, Impaired... OMIM:613470
Cystinosis, Nephropathic
Polydipsia, Delayed puberty, Generalized aminoaciduria, Primary hypothyroidism, Splenomegaly, Hyp... OMIM:219800
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Delayed puberty, Abnormal female external genitalia morphology, Abnormal ovarian morphology, Abno... ORPHA:95699
Wolman Disease
Hepatomegaly, Anemia, Bone-marrow foam cells, Ascites, Splenomegaly, Adrenal calcification, Adren... ORPHA:75233
Autoimmune Hepatitis
Cirrhosis, Jaundice, Sclerosing cholangitis, Acute hepatitis, Depression, Fulminant hepatitis, He... ORPHA:2137
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Jaundice, Fava bean-induced hemolytic anemia, Leukocytosis, Reticulocytosis, Unconjugated hyperbi... OMIM:300908
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Testicular atrophy OMIM:601163
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Genital ulcers, Hepatomegaly, B lymphocytopenia, Lymphopenia, Eosinophilia, Lymph node hypoplasia... OMIM:602450
Monosomy 13Q34
Hypercalcemia, Hepatic steatosis, Fetal pyelectasis, Metrorrhagia ORPHA:96168
Pituitary Adenoma 4, Acth-Secreting
Abnormal fear-induced behavior, Hypokalemia, Emotional lability, Nephrolithiasis, Oligomenorrhea,... OMIM:219090
Thrombocytopenia With Beta-Thalassemia, X-Linked
Reticulocytosis, Reduced platelet alpha granules, Increased mean platelet volume, Thrombocytopeni... OMIM:314050
Aarskog-Scott Syndrome
Delayed puberty, Bilateral cryptorchidism, Elevated circulating follicle stimulating hormone leve... OMIM:305400
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hypertriglyceridemia, Delayed puberty, Hepatocellular adenoma, Hepatomegaly, Portal fibrosis, Cir... ORPHA:264580
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Hypertriglyceridemia, Hypoparathyroidism, Congenital megaureter, Hypercalciuria, Renal cyst, Prec... ORPHA:369837
Fibrous Dysplasia Of Bone
Thyroid carcinoma, Precocious puberty in females, Abnormality of the endocrine system, Testicular... ORPHA:249
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Enlarged kidney, Chronic neutropenia, Transient neutropenia, Bifid ureter, Nephroblastoma, Renal ... ORPHA:500095
Overhydrated Hereditary Stomatocytosis
Hepatomegaly, Jaundice, Increased mean corpuscular volume, Hyperbilirubinemia, Reticulocytosis, P... OMIM:185000
Alpha-Thalassemia
Anisopoikilocytosis, Hemoglobin Barts, Jaundice, Anemia, Cholelithiasis, Reticulocytosis, Hepatos... ORPHA:846
Fanconi Anemia, Complementation Group D2
Annular pancreas, Deficient excision of UV-induced pyrimidine dimers in DNA, Hypergonadotropic hy... OMIM:227646
Drug-Induced Autoimmune Hemolytic Anemia
Increased total bilirubin, Abnormal urinary color, Splenomegaly, Autoimmune hemolytic anemia ORPHA:90037
Bile Acid Synthesis Defect, Congenital, 3
Cirrhosis, Intrahepatic cholestasis, Hepatomegaly, Jaundice, Acholic stools, Hyperbilirubinemia, ... OMIM:613812
Bile Acid Synthesis Defect, Congenital, 1
Cirrhosis, Hepatomegaly, Intrahepatic cholestasis, Jaundice, Giant cell hepatitis, Splenomegaly, ... OMIM:607765
Omenn Syndrome
Hepatomegaly, Anemia, Lymphadenopathy, B lymphocytopenia, Hypoproteinemia, Hypoplasia of the thym... OMIM:603554
Glycogen Storage Disease Of Heart, Lethal Congenital
Cardiomegaly, Enlarged kidney, Ascites OMIM:261740
Bile Acid Synthesis Defect, Congenital, 2
Hepatomegaly, Jaundice, Intrahepatic cholestasis, Hyperbilirubinemia, Splenomegaly OMIM:235555
Spinal Cord Injury
Urinary retention, Hypercalcemia, Urinary bladder sphincter dysfunction ORPHA:90058
Macrophage Activation Syndrome
Hypertriglyceridemia, Hepatomegaly, Anemia, Hemophagocytosis, Elevated circulating C-reactive pro... ORPHA:158061
De Sanctis-Cacchione Syndrome
Defective DNA repair after ultraviolet radiation damage, Gonadal hypoplasia, Bilateral cryptorchi... OMIM:278800
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Hypertriglyceridemia, Hepatocellular adenoma, Hepatomegaly, Cirrhosis, Anemia, Renal tubular acid... ORPHA:79240
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Hypertriglyceridemia, Anemia, Hemophagocytosis, Pancytopenia, Splenomegaly, Increased circulating... OMIM:618398
Short Fifth Metacarpals-Insulin Resistance Syndrome
Hyperinsulinemia, Spherocytosis, Splenomegaly ORPHA:66518
Glycogen Storage Disease Xii
Delayed puberty, Normocytic anemia, Hepatomegaly, Reduced haptoglobin level, Jaundice, Cholelithi... OMIM:611881
Felty Syndrome
Splenomegaly, Neutropenia OMIM:134750
Gamma-Heavy Chain Disease
Autoimmune hemolytic anemia, Hepatomegaly, Anemia, Lymphadenopathy, Abnormal lymphocyte morpholog... ORPHA:100026
Proteus Syndrome
Enlarged kidney, Ovarian neoplasm, Long penis, Testicular neoplasm, Diabetes insipidus, Enlarged ... ORPHA:744
Simpson-Golabi-Behmel Syndrome, Type 1
Enlarged kidney, Hepatomegaly, Hypospadias, Renal cyst, Polysplenia, Hydronephrosis, Splenomegaly... OMIM:312870
Anemia, Congenital Dyserythropoietic, Type Ia
Hepatomegaly, Hyperbilirubinemia, Anemia of inadequate production, Macrocytic dyserythropoietic a... OMIM:224120
Polycythemia Vera
Increased red blood cell mass, Leukocytosis, Increased circulating hemoglobin concentration, Thro... OMIM:263300
Xeroderma Pigmentosum, Complementation Group E
Defective DNA repair after ultraviolet radiation damage OMIM:278740
Immunodeficiency 98 With Autoinflammation, X-Linked
Autoimmune hemolytic anemia, Hepatomegaly, Hemophagocytosis, Lymphadenopathy, B lymphocytopenia, ... OMIM:301078
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Elevated circulating thyroid-stimulating hormone concentration, Hepatomegaly, Splenic cyst, Incre... OMIM:610199
Overhydrated Hereditary Stomatocytosis
Decreased mean corpuscular hemoglobin concentration, Intermittent jaundice, Reticulocytosis, Abno... ORPHA:3203
Chronic Myeloid Leukemia
Myeloproliferative disorder, Leukocytosis, Abnormal granulocyte morphology, Thrombocytopenia, Spl... ORPHA:521
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, B lymphocytope... ORPHA:231154
Vitamin D-Dependent Rickets, Type 2A
Irritability, Elevated circulating parathyroid hormone level, Hypocalcemic seizures, Hypophosphat... OMIM:277440
Thrombocytopenia, Anemia, And Myelofibrosis
Anisopoikilocytosis, Thrombocytopenia, Anemia, Splenomegaly OMIM:617441
Carney Complex
Ductal carcinoma in situ, Neoplasm of the pancreas, Pituitary growth hormone cell adenoma, Ovaria... ORPHA:1359
Paget Disease Of Bone 2, Early-Onset
Hypercalcemia, Hydroxyprolinuria OMIM:602080
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Premature ovarian insufficiency, Depression, Secondary amenorrhea, Hypergonadotropic hypogonadism... OMIM:157640
Hyperlipoproteinemia, Type Id
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hepatomegaly, Pancreatitis, Increa... OMIM:615947
Trichothiodystrophy
Gonadal dysgenesis, Cryptorchidism, Defective DNA repair after ultraviolet radiation damage ORPHA:33364
Familial Mediterranean Fever
Hepatomegaly, Elevated circulating C-reactive protein concentration, Leukocytosis, Nephrotic synd... OMIM:249100
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis
Breast hypoplasia, Diabetes mellitus, Oligozoospermia, Clitoral hypoplasia OMIM:614813
Xeroderma Pigmentosum, Complementation Group C
Defective DNA repair after ultraviolet radiation damage OMIM:278720
Lipodystrophy, Congenital Generalized, Type 2
Hypertriglyceridemia, Decreased fertility, Clitoral hypertrophy, Hepatomegaly, Cirrhosis, Decreas... OMIM:269700
Sarcoidosis
Increased T cell count, Nephrocalcinosis, Leukopenia, Abnormal reproductive system morphology, En... ORPHA:797
Lipodystrophy, Congenital Generalized, Type 1
Hypertriglyceridemia, Clitoral hypertrophy, Hepatomegaly, Cirrhosis, Decreased fertility in femal... OMIM:608594
Parenteral Nutrition-Associated Cholestasis
Cirrhosis, Hepatomegaly, Jaundice, Cholelithiasis, Hyperlipidemia, Portal hypertension, Biliary h... ORPHA:567983
Hyperlipoproteinemia, Type I
Lactescent serum, Jaundice, Increased circulating chylomicron concentration, Hyperlipidemia, Acut... OMIM:238600
Myelofibrosis
Hepatomegaly, Hemophagocytosis, Myeloproliferative disorder, Splenomegaly, Extramedullary hematop... OMIM:254450
Hereditary Elliptocytosis
Jaundice, Cholelithiasis, Hyperbilirubinemia, Reticulocytosis, Poikilocytosis, Prolonged neonatal... ORPHA:288
Williams Syndrome
Abnormal circulating lipid concentration, Hypoplasia of penis, Nephrocalcinosis, Multiple renal c... ORPHA:904
Isolated Biliary Atresia
Cirrhosis, Hepatomegaly, Jaundice, Periportal fibrosis, Acholic stools, Cholestasis, Bile duct pr... ORPHA:30391
Elliptocytosis 1
Elliptocytosis, Jaundice, Splenomegaly, Hemolytic anemia OMIM:611804
Wilson Disease
Portal fibrosis, Ascites, Splenomegaly, Dysphagia, High nonceruloplasmin-bound serum copper, Hepa... OMIM:277900
Bloom Syndrome
Premature ovarian insufficiency, Male infertility, Azoospermia, Oligozoospermia, Diabetes mellitus ORPHA:125
Xeroderma Pigmentosum, Complementation Group A
Defective DNA repair after ultraviolet radiation damage OMIM:278700
Sitosterolemia 1
Elevated circulating sitosterol concentration, Reduced haptoglobin level, Chronic hemolytic anemi... OMIM:210250
Xeroderma Pigmentosum, Complementation Group D
Defective DNA repair after ultraviolet radiation damage OMIM:278730
Hardikar Syndrome
Intrahepatic bile duct dilatation, Cholestasis, Prolonged neonatal jaundice, Splenomegaly, Hypers... OMIM:301068
Familial Mediterranean Fever
Pancreatitis, Lymphadenopathy, Depression, Ascites, Leukocytosis, Nephrotic syndrome, Nephrocalci... ORPHA:342
Primary Sclerosing Cholangitis
Cholestasis, Ascites, Splenomegaly, Type I diabetes mellitus, Jaundice, Depression, Thyroiditis, ... ORPHA:171
Williams-Beuren Syndrome
Obsessive-compulsive trait, Renal insufficiency, Hypercalciuria, Abnormal renal morphology, Recur... OMIM:194050
Gm2 Gangliosidosis, Ab Variant
Inappropriate behavior, Abnormal fear-induced behavior ORPHA:309246
Sotos Syndrome
Decreased fertility, Abnormality of the kidney, Ureteral duplication, Aggressive behavior, Hyposp... ORPHA:821
Chronic Visceral Acid Sphingomyelinase Deficiency
Hypertriglyceridemia, Abnormal circulating lipid concentration, Decreased HDL cholesterol concent... ORPHA:77293
Osteopetrosis, Autosomal Recessive 7
Hypocalcemic seizures, Hepatomegaly, Anemia, Splenomegaly OMIM:612301
Steinert Myotonic Dystrophy
Impotence, Aggressive behavior, Decreased response to growth hormone stimulation test, Hyperinsul... ORPHA:273
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Abnormal fear-induced behavior, Hypospadias, Emotional lability, Recurrent urinary tract infectio... ORPHA:353281
X-Linked Intellectual Disability, Snyder Type
Ectopic kidney, Hypospadias, Abnormality of the Leydig cells, Cryptorchidism, Testicular atrophy ORPHA:3063
Tetrasomy 9P
Infertility, Oligozoospermia, Absent gallbladder, Cryptorchidism, Micropenis ORPHA:3310
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Abnormality of the kidney, Aggressive behavior, Hypospadias, Abnormal fear-induced behavior, Emot... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Abnormality of the kidney, Aggressive behavior, Hypospadias, Abnormal fear-induced behavior, Emot... ORPHA:353277
Alström Syndrome
Elevated circulating thyroid-stimulating hormone concentration, Decreased response to growth horm... 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 Ndrg3

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 Ndrg3.

No publications found that use IMPC mice or data for Ndrg3.

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
Ndrg3tm35448(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Ndrg3tm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells
Ndrg3tm356715(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Ndrg3tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Ndrg3em1(IMPC)Mbp Exon Deletion Mice, Tissue

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