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Gene: Pgbd1 MGI:2441675

Gene Summary

Name:

piggyBac transposable element derived 1

Synonyms:

4921509E05Rik

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
abnormal kidney morphology	Pgbd1^em1(IMPC)Tcp	HOM	Late adult	0.00
abnormal lymph node morphology	Pgbd1^em1(IMPC)Tcp	HOM	Late adult	0.00
abnormal pancreas morphology	Pgbd1^em1(IMPC)Tcp	HOM	Late adult	0.00
small testis	Pgbd1^em1(IMPC)Tcp	HOM	Late adult	0.00
enlarged lymph nodes	Pgbd1^em1(IMPC)Tcp	HOM	Late adult	0.00
cataract	Pgbd1^em1(IMPC)Tcp	HOM	Late adult	2.37×10^-05
abnormal uterus morphology	Pgbd1^em1(IMPC)Tcp	HOM	Late adult	0.00
abnormal heart morphology	Pgbd1^em1(IMPC)Tcp	HOM	Late adult	0.00
abnormal skin morphology	Pgbd1^em1(IMPC)Tcp	HOM	Late adult	0.00
abnormal sternum morphology	Pgbd1^em1(IMPC)Tcp	HOM	Late adult	0.00
small uterus	Pgbd1^em1(IMPC)Tcp	HOM	Late adult	0.00
anophthalmia	Pgbd1^em1(IMPC)Tcp	HOM	Early adult	0.00
enlarged urinary bladder	Pgbd1^em1(IMPC)Tcp	HOM	Late adult	0.00
small adrenal glands	Pgbd1^em1(IMPC)Tcp	HOM	Late adult	0.00
enlarged prostate gland	Pgbd1^em1(IMPC)Tcp	HOM	Late adult	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.

Gross Pathology and Tissue Collection

Images

10 Images

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Eye Morphology

Images Ophthalmoscopy

11 Images

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X-ray

XRay Images Whole Body Dorso Ventral

14 Images

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X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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X-ray

XRay Images Skull Lateral Orientation

10 Images

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X-ray

XRay Images Skull Lateral Orientation

14 Images

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Gross Pathology and Tissue Collection

Images

12 Images

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X-ray

XRay Images Whole Body Lateral Orientation

14 Images

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Histopathology

Images

15 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

14 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

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Histopathology

Images

14 Images

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Eye Morphology

Images Slit Lamp

1 Images

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Immunophenotyping

Panel A FCS file(s)

4 Images

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Immunophenotyping

Panel B FCS file(s)

4 Images

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Human diseases caused by Pgbd1 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 Pgbd1 (0 diseases)
Human diseases predicted to be associated with Pgbd1 (590 diseases)

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

The table below shows human diseases predicted to be associated to Pgbd1 by phenotypic similarity.

Disease	Matching phenotypes	Source
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome	Microphthalmia, Anophthalmia	ORPHA:85275
Nanophthalmos 1	Bilateral microphthalmos	OMIM:600165
Microphthalmia, Isolated 7	Microphthalmia	OMIM:613704
Nanophthalmos 2	Microphthalmia	OMIM:609549
Microphthalmia, Isolated 1	Microphthalmia, Anophthalmia	OMIM:251600
Microphthalmia, Syndromic 16	Microphthalmia, Anophthalmia	OMIM:611038
Microphthalmia, Isolated, With Coloboma 10	Microphthalmia, Anophthalmia	OMIM:616428
Microphthalmia, Isolated, With Coloboma 5	Microphthalmia, Anophthalmia, Bilateral microphthalmos	OMIM:611638
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness	Cryptorchidism, Cataract, Short thumb	OMIM:274205
Hepatic Venoocclusive Disease With Immunodeficiency	Abnormality of the liver, Endocardial fibrosis, Absence of lymph node germinal center	OMIM:235550
Fryns Microphthalmia Syndrome	Microphthalmia, Anophthalmia	OMIM:600776
Microphthalmia, Isolated 8	Microphthalmia, Anophthalmia, Optic nerve hypoplasia, True anophthalmia	OMIM:615113
Microphthalmia, Isolated 2	Microphthalmia	OMIM:610093
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)	Infertility, Abnormal lymph node morphology	OMIM:136580
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia	Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Micropenis, Hypoplasia of the ...	OMIM:614841
Squamous Cell Carcinoma Of The Esophagus	Clinodactyly of the 5th toe, Lymphadenopathy	ORPHA:99977
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia	Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Absence of pubertal developmen...	OMIM:614837
Anencephaly 2	Anophthalmia	OMIM:619452
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome	Streak ovary, Abnormality of female external genitalia, Increased circulating gonadotropin level,...	ORPHA:168563
46,Xy Sex Reversal 3	Penoscrotal hypospadias, Elevated circulating luteinizing hormone level, Hypoplasia of the uterus...	OMIM:612965
Satoyoshi Syndrome	Tapered finger, Nephrogenic diabetes insipidus, Abnormality of the humerus, Genu varum, Abnormal ...	ORPHA:3130
Spastic Paraparesis And Deafness	Cataract, Hypogonadism	OMIM:312910
Lipoid Congenital Adrenal Hyperplasia	Renal salt wasting, Congenital adrenal hyperplasia, Hypospadias, Adrenogenital syndrome	OMIM:201710
Microphthalmia, Syndromic 12	Microphthalmia, Anophthalmia	OMIM:615524
Ovarian Dysgenesis 2	Streak ovary, Hypergonadotropic hypogonadism, Premature ovarian insufficiency, Primary amenorrhea...	OMIM:300510
Diethylstilbestrol Syndrome	Premature ovarian insufficiency, Hypospadias, Vaginal neoplasm, Decreased fertility in females, A...	ORPHA:1916
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies	Unilateral renal agenesis, Ectopic kidney, Abnormal rib morphology, Hypoplasia of the uterus, Azo...	OMIM:601076
Premature Ovarian Failure 7	Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Secondary amenor...	OMIM:612964
Ovarian Dysgenesis 6	Hypoplasia of the uterus, Hypergonadotropic hypogonadism, Absence of pubertal development, Primar...	OMIM:618078
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency	Lymphadenopathy	ORPHA:319600
Neutropenia, Severe Congenital, 9, Autosomal Dominant	Splenomegaly, Cataract, 3-Methylglutaconic aciduria	OMIM:619813
1Q21.1 Microduplication Syndrome	Cataract, Hypospadias, Cryptorchidism, Hip dislocation, Hip dysplasia, Tetralogy of Fallot	ORPHA:250994
Pulmonary Nodular Lymphoid Hyperplasia	Mediastinal lymphadenopathy, Follicular hyperplasia	ORPHA:60026
Ovarian Dysgenesis 7	Elevated circulating luteinizing hormone level, Primary amenorrhea, Hypoplasia of the uterus, Dec...	OMIM:618117
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency	Bifid scrotum, Decreased circulating cortisol level, Bilateral cryptorchidism, Blind vagina, Ambi...	ORPHA:90793
Ovarian Dysgenesis 9	Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Primary amenorrh...	OMIM:619665
46,Xy Sex Reversal 11	Abnormal internal genitalia, Elevated circulating luteinizing hormone level, Absence of pubertal ...	OMIM:273250
Normosmic Congenital Hypogonadotropic Hypogonadism	Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Female hypogonadism, N...	ORPHA:432
Testicular Regression Syndrome	Abnormal male internal genitalia morphology, Hypoplasia of penis, Male pseudohermaphroditism, Dec...	ORPHA:983
Burkitt Lymphoma	Abnormality of the spleen, Abnormality of the pancreas, Abnormal lymph node morphology, Abnormali...	ORPHA:543
Leydig Cell Hypoplasia	Hypoplasia of the Leydig cells, Male hypogonadism, Micropenis, Abnormal internal genitalia, Hypos...	ORPHA:755
Hereditary Progressive Mucinous Histiocytosis	Lymphadenopathy	ORPHA:158025
Hyperinsulinemic Hypoglycemia, Familial, 2	Nesidioblastosis, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia	OMIM:601820
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome	Hypogonadism, Cataract, Abnormality of the ovary, Decreased testicular size	ORPHA:1875
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome	Hypoplasia of penis, Cataract, Hypospadias, Aplasia/Hypoplasia of the lens, Cryptorchidism, Genu ...	ORPHA:1381
Disordered Steroidogenesis Due To Cytochrome P450 Oxidoreductase Deficiency	Ambiguous genitalia, Congenital adrenal hyperplasia, Increased circulating ACTH level	OMIM:613571
Immunodeficiency 38 With Basal Ganglia Calcification	Lymphadenopathy	OMIM:616126
Premature Ovarian Failure 6	Premature ovarian insufficiency, Streak ovary, Female infertility, Elevated circulating luteinizi...	OMIM:612310
Premature Ovarian Failure 18	Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Irregular menstr...	OMIM:619203
Perrault Syndrome 6	Streak ovary, Premature ovarian insufficiency, Irregular menstruation, Secondary amenorrhea, Prim...	OMIM:617565
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency	Hypoplasia of the vagina, Clitoral hypertrophy, Increased circulating androstenedione concentrati...	OMIM:202010
Hypogonadism, Male	Male hypogonadism, Micropenis, Testicular atrophy, Hypospadias	OMIM:241100
Amed Syndrome, Digenic	Hypoplasia of the uterus, Long thumb, Bone marrow hypocellularity, Adrenal hypoplasia	OMIM:619151
Mantle Cell Lymphoma	Splenomegaly, Lymphadenopathy	ORPHA:52416
Ovarian Dysgenesis 5	Elevated circulating luteinizing hormone level, Primary amenorrhea, Hypoplasia of the uterus, Dec...	OMIM:617690
Testicular Agenesis	Abnormal vas deferens morphology, Urethrovaginal fistula, Absent external genitalia, Increased ci...	ORPHA:325124
Perrault Syndrome 3	Streak ovary, Hypergonadotropic hypogonadism, Elevated circulating luteinizing hormone level, Pri...	OMIM:614129
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency	Decreased circulating cortisol level, Renal salt wasting, Ambiguous genitalia, female, Ambiguous ...	ORPHA:90791
Oculocerebrocutaneous Syndrome	Microphthalmia, Anophthalmia	OMIM:164180
Premature Ovarian Failure 13	Female infertility, Hypoplasia of the uterus, Elevated circulating follicle stimulating hormone l...	OMIM:617442
Reticuloendotheliosis, X-Linked	Hepatosplenomegaly, Jaundice, Lymphadenopathy	OMIM:312500
Acromesomelic Dysplasia 3	Carpal synostosis, Hypoplasia of the ulna, Brachydactyly, Hypergonadotropic hypogonadism, Tarsal ...	OMIM:609441
Seckel Syndrome 7	Abnormal carpal morphology, Primary amenorrhea, Central hypothyroidism, Hypoplasia of the uterus,...	OMIM:614851
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency	Adrenal hyperplasia, Hypospadias, Adrenogenital syndrome, Renal salt wasting	OMIM:201910
Premature Ovarian Failure 3	Hypoplasia of the uterus, Premature ovarian insufficiency, Secondary amenorrhea	OMIM:608996
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency	Bifid scrotum, Adrenal hyperplasia, Hypospadias, Scrotal hypospadias, Cryptorchidism, Male pseudo...	OMIM:201810
Perlman Syndrome	Hepatomegaly, Hypoplasia of penis, Cryptorchidism, Hyperinsulinemia, Abnormal pancreas morphology	ORPHA:2849
Laurence-Moon Syndrome	Finger syndactyly, Hypoplasia of penis, Cataract, Renal insufficiency, Cryptorchidism, Congenital...	ORPHA:2377
Dietary Iron Overload Disease	Hepatomegaly, Viral hepatitis, Diabetes mellitus, Hepatocellular carcinoma, Micronodular cirrhosi...	ORPHA:139507
Autoimmune Polyendocrinopathy Type 1	Hypoparathyroidism, Adrenal hyperplasia, Cataract, Primary adrenal insufficiency, Abnormal circul...	ORPHA:3453
Matthew-Wood Syndrome	Cryptorchidism, Renal hypoplasia, Aplasia/Hypoplasia of the pancreas, Horseshoe kidney, Abnormal ...	ORPHA:2470
Upper Limb Defect-Eye And Ear Abnormalities Syndrome	Cryptorchidism, Short metacarpal, Cataract, Short thumb	ORPHA:2489
Estrogen Resistance Syndrome	Enlarged polycystic ovaries, Increased circulating gonadotropin level, Absence of secondary sex c...	ORPHA:785
Familial Papillary Or Follicular Thyroid Carcinoma	Chronic noninfectious lymphadenopathy, Follicular thyroid carcinoma, Abnormal lymph node morpholo...	ORPHA:319487
Adenocarcinoma Of The Esophagus	Clinodactyly of the 5th toe, Lymphadenopathy	ORPHA:99976
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency	Hypoplasia of the vagina, Dysmenorrhea, Ambiguous genitalia, male, Decreased serum estradiol, Dec...	ORPHA:90796
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome	Hypoplasia of penis, Cataract, Ventricular septal defect, Cryptorchidism, Abnormal rib morphology...	ORPHA:2772
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism	Cataract, Hypogonadism	OMIM:254000
Spermatogenic Failure, X-Linked, 2	Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest	OMIM:309120
Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency	Adrenal hyperplasia, Male pseudohermaphroditism, Adrenogenital syndrome, Primary amenorrhea, Ambi...	OMIM:202110
Microphthalmia, Syndromic 9	Truncus arteriosus, Ventricular septal defect, Cryptorchidism, Hypoplastic left atrium, Multilobu...	OMIM:601186
Isolated Follicle Stimulating Hormone Deficiency	Hyperplasia of the Leydig cells, Decreased serum testosterone concentration, Decreased female lib...	ORPHA:52901
Meckel Syndrome, Type 8	Microphthalmia, Anophthalmia	OMIM:613885
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Fused labia majora, Decreased circulating cortisol level, Adrenal hyperplasia, Decreased circulat...	ORPHA:95699
Perrault Syndrome 4	Premature ovarian insufficiency, Increased circulating gonadotropin level, Secondary amenorrhea, ...	OMIM:615300
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia	Chronic noninfectious lymphadenopathy, Abnormal lymph node morphology, Papillary thyroid carcinom...	ORPHA:97290
Partial Androgen Insensitivity Syndrome	Fused labia majora, Bifid scrotum, Bilateral cryptorchidism, Blind vagina, Increased circulating ...	ORPHA:90797
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia	Hypogonadotropic hypogonadism, Decreased circulating luteinizing hormone level, Hypoplasia of the...	OMIM:614842
Immunodeficiency 104	Hepatomegaly, Splenomegaly, Lymphadenopathy	OMIM:608971
Satoyoshi Syndrome	Short metacarpal, Brachydactyly, Short metatarsal, Osteolytic defects of the phalanges of the han...	OMIM:600705
Complete Androgen Insensitivity Syndrome	Male infertility, Abnormal uterine cervix morphology, Testicular neoplasm, Elevated circulating l...	ORPHA:99429
Kerion Celsi	Lymphadenopathy	ORPHA:499
Hemochromatosis, Type 1	Hepatomegaly, Diabetes mellitus, Hypogonadotropic hypogonadism, Cardiomegaly, Splenomegaly, Azoos...	OMIM:235200
Laryngeal Neuroendocrine Tumor	Chronic noninfectious lymphadenopathy, Adrenocorticotropic hormone excess, Increased serum seroto...	ORPHA:100083
46,Xx Sex Reversal 2	Bifid scrotum, Hypoplasia of the vagina, Small scrotum, True hermaphroditism, Ovotestis, Perineal...	OMIM:278850
Immunodeficiency 75 With Lymphoproliferation	Hepatosplenomegaly, Lymphadenopathy, Follicular hyperplasia	OMIM:619126
Thrombocytopenia-Absent Radius Syndrome	Finger syndactyly, Tibial torsion, Aplasia/hypoplasia of the humerus, Absent radius, Coxa valga, ...	ORPHA:3320
Müllerian Aplasia And Hyperandrogenism	Primary amenorrhea, Hypoplasia of the uterus, Increased serum testosterone level, Abnormal vagina...	ORPHA:247768
Roifman Syndrome	Noncompaction cardiomyopathy, Hip contracture, Epiphyseal dysplasia, Hypogonadotropic hypogonadis...	ORPHA:353298
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome	Anophthalmia	ORPHA:411986
Estrogen Resistance	Increased circulating osteocalcin level, Hyperinsulinemia, Increased serum estradiol, Primary ame...	OMIM:615363
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome	Cataract, Hypergonadotropic hypogonadism, Cryptorchidism, Short toe, Hyperinsulinemia, Secondary ...	ORPHA:3085
Meckel Syndrome 12	Rocker bottom foot, Ureteral hypoplasia, Antecubital pterygium, Renal hypoplasia, Hypoplasia of t...	OMIM:616258
Hypogonadism-Cataract Syndrome	Cataract, Hypogonadism, Infertility, Elevated circulating follicle stimulating hormone level, Mal...	OMIM:240950
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts	Hepatomegaly, Cataract, Ventricular septal defect, Ectopic kidney, Cryptorchidism, Cystic renal d...	OMIM:613730
46,Xy Sex Reversal 7	Streak ovary, Hypoplasia of the fallopian tube, Primary amenorrhea, Hypoplasia of the uterus, Sex...	OMIM:233420
Histiocytosis-Lymphadenopathy Plus Syndrome	Decreased response to growth hormone stimulation test, Cardiomegaly, Corneal arcus, Joint contrac...	OMIM:602782
Renal Cysts And Diabetes Syndrome	Diabetes mellitus, Hypospadias, Proteinuria, Maturity-onset diabetes of the young, Unilateral ren...	OMIM:137920
Oculotrichoanal Syndrome	Microphthalmia, Anophthalmia	ORPHA:2717
Galactose Epimerase Deficiency	Hepatomegaly, Cataract, Splenomegaly, Jaundice, Aminoaciduria	ORPHA:79238
Hypergonadotropic Hypogonadism-Cataract Syndrome	Cataract, Hypergonadotropic hypogonadism, Increased circulating gonadotropin level, Absence of se...	ORPHA:2410
Renal-Hepatic-Pancreatic Dysplasia 1	Asplenia, Hepatic fibrosis, Atrial septal defect, Hepatomegaly, Portal hypertension, Malformation...	OMIM:208540
Immunodeficiency With Hyper-Igm, Type 5	Epididymitis, Lymphadenopathy	OMIM:608106
Maternal Uniparental Disomy Of Chromosome 6	Hydrocele testis, Slender long bone, Increased serum testosterone level, Congenital adrenal hyper...	ORPHA:96181
Wolfram Syndrome 1	Neurogenic bladder, Diabetes mellitus, Diabetes insipidus, Cataract, Hydroureter, Limited mobilit...	OMIM:222300
Desmoplastic Small Round Cell Tumor	Abnormal peritoneum morphology, Hepatomegaly, Neoplasm of the pancreas, Testicular neoplasm, Medi...	ORPHA:83469
46,Xx Ovotesticular Difference Of Sex Development	Bifid scrotum, Abnormal male internal genitalia morphology, Hypoplasia of penis, Small scrotum, H...	ORPHA:2138
Martsolf Syndrome 2	Cataract, Overlapping toe, Hypogonadotropic hypogonadism, Camptodactyly of finger, Developmental ...	OMIM:619420
46,Xy Sex Reversal 4	Hypergonadotropic hypogonadism, Agonadism, Sex reversal, Hypoplasia of the uterus, Gonadal dysgen...	OMIM:154230
Corticosteroid-Sensitive Aseptic Abscess Syndrome	Liver abscess, Abnormality of the pancreas, Abnormality of the lymphatic system, Abnormal lymph n...	ORPHA:54251
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency	Endometrial carcinoma, Decreased circulating cortisol level, Adrenal hyperplasia, Jaundice, Male ...	ORPHA:90790
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia	Hypothalamic gonadotropin-releasing hormone deficiency, Decreased serum testosterone concentratio...	OMIM:308700
Linear Skin Defects With Multiple Congenital Anomalies 1	Cataract, Hypospadias, Overriding aorta, Sclerocornea, Ovotestis, Ventricular septal defect, Hypo...	OMIM:309801
Tetraamelia Syndrome 1	Cataract, Hypoplasia of the fallopian tube, Absent external genitalia, Asplenia, Urethral atresia...	OMIM:273395
Cardiac-Urogenital Syndrome	Bifid scrotum, Patent urachus, Atrial septal defect, Scimitar anomaly, Micropenis, Mesocardia, Pe...	OMIM:618280
Kimura Disease	Abnormal salivary gland morphology, Lymphadenopathy, Follicular hyperplasia	ORPHA:482
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency	Decreased circulating cortisol level, Adrenal calcification, Adrenal hypoplasia, Renal salt wasti...	ORPHA:289548
Hereditary Bullous Dystrophy, Macular Type	Cataract, Corneal opacity, External genital hypoplasia, Tapered finger, Cryptorchidism, Abnormal ...	ORPHA:1867
Renal And Mullerian Duct Hypoplasia	Renal hypoplasia, Horseshoe kidney, Hydrocele testis, Anteriorly displaced urethral meatus, Aplas...	OMIM:266810
Wagr Syndrome	Cataract, Cryptorchidism, Aplasia/Hypoplasia of the iris, Ambiguous genitalia, Displacement of th...	ORPHA:893
Meckel Syndrome	Ureteral duplication, Sclerocornea, Asplenia, Microcornea, Urethral atresia, Accessory spleen, Mu...	ORPHA:564
Anophthalmia Plus Syndrome	Anophthalmia	ORPHA:1104
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency	Decreased circulating cortisol level, Adrenal hypoplasia, Renal salt wasting, Sex reversal, Ambig...	ORPHA:168558
Spinocerebellar Ataxia Type 32	Male infertility, Azoospermia, Testicular atrophy	ORPHA:276183
Spinocerebellar Ataxia 32	Azoospermia, Testicular atrophy, Infertility	OMIM:613909
Myoectodermal Gonadal Dysgenesis Syndrome	Accessory spleen, Elevated circulating luteinizing hormone level, Bifid distal phalanx of the thu...	OMIM:618419
Thymic Neuroendocrine Tumor	Calcium nephrolithiasis, Chronic noninfectious lymphadenopathy, Pituitary null cell adenoma, Panc...	ORPHA:97289
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Hepatomegaly, Generalized lymphadenopathy, Aplasia of the thymus, Genital ulcers, Splenomegaly, L...	OMIM:602450
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome	Renal insufficiency, Streak ovary, Hypospadias, Cryptorchidism, Abnormality of the uterus, Gonado...	OMIM:194072
Microphthalmia, Syndromic 5	Microphthalmia, Anophthalmia, Optic nerve hypoplasia	OMIM:610125
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Early ossification of capital femoral epiphyses, Renal cyst, Hepatic fibrosis, Hypoplastic iliac ...	OMIM:208500
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly	Syndactyly, Ventricular septal defect, Pancreatic fibrosis, Postaxial polydactyly, Preaxial polyd...	OMIM:615503
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Splenomegaly, Hepatitis, Lymphadenopathy	ORPHA:444463
Autoinflammation With Episodic Fever And Lymphadenopathy	Hepatomegaly, Splenomegaly, Recurrent tonsillitis, Lymphadenopathy	OMIM:618852
Nodular Lymphocyte Predominant Hodgkin Lymphoma	Hepatomegaly, Splenomegaly, Lymphadenopathy	ORPHA:86893
Kallmann Syndrome With Spastic Paraplegia	Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Unilateral...	OMIM:308750
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome	Ventricular hypertrophy, Adrenal hyperplasia, Ventricular septal defect, Abnormal circulating ren...	ORPHA:369929
Trisomy 13	Aplasia/Hypoplasia of the iris, Microphthalmia, Anophthalmia	ORPHA:3378
Roifman Syndrome	Hepatomegaly, Noncompaction cardiomyopathy, Short metacarpal, Ventricular septal defect, Hip cont...	OMIM:616651
Mu-Heavy Chain Disease	Hepatomegaly, Bence Jones Proteinuria, Splenomegaly, Lymphadenopathy, Nephropathy	ORPHA:100024
46,Xy Partial Gonadal Dysgenesis	Hypoplasia of the vagina, Hypoplasia of penis, Vanishing testis, Decreased serum estradiol, Micro...	ORPHA:251510
Granulomatous Slack Skin	Nephrocalcinosis, Acute kidney injury, Abnormal lymph node morphology	ORPHA:33111
Hyperaldosteronism, Familial, Type I	Adrenal hyperplasia, Hyperaldosteronism, Adrenogenital syndrome, Decreased circulating renin level	OMIM:103900
Familial Hyperaldosteronism Type Iii	Adrenal hyperplasia, Glucocortocoid-insensitive primary hyperaldosteronism, Abnormal circulating ...	ORPHA:251274
Microcephaly 20, Primary, Autosomal Recessive	Hypoplasia of the uterus, Ureteral agenesis, Vaginal atresia, Renal hypoplasia	OMIM:617914
Hereditary Amyloidosis With Primary Renal Involvement	Male infertility, Hepatomegaly, Renal insufficiency, Primary testicular failure, Proteinuria, Noc...	ORPHA:85450
Follicular Lymphoma	Abnormal peritoneum morphology, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy	ORPHA:545
Thrombocytopenia-Absent Radius Syndrome	Ureteral duplication, Femoral bowing, Abnormal shoulder morphology, Clinodactyly of the 5th finge...	OMIM:274000
Popliteal Pterygium Syndrome	Bifid scrotum, Hypoplasia of the vagina, Small scrotum, Cryptorchidism, Hypoplasia of the uterus,...	OMIM:119500
Symptomatic Form Of Hfe-Related Hemochromatosis	Cholangiocarcinoma, Hepatomegaly, Diabetes mellitus, Hypogonadotropic hypogonadism, Abnormal meta...	ORPHA:465508
Meacham Syndrome	Atrial septal defect, Hypoplasia of penis, Crossed fused renal ectopia, Ventricular septal defect...	ORPHA:3097
Hydrolethalus Syndrome 1	Accessory spleen, Hypospadias, Ventricular septal defect, Bifid uterus, Complete atrioventricular...	OMIM:236680
Familial Hyperaldosteronism Type Ii	Adrenal hyperplasia, Glucocortocoid-insensitive primary hyperaldosteronism, Abnormal circulating ...	ORPHA:404
Kennedy Disease	Type II diabetes mellitus, Testicular atrophy, Decreased fertility, Erectile dysfunction	ORPHA:481
Infantile Spasms-Broad Thumbs Syndrome	Hypertrophic cardiomyopathy, Vaginal hernia, Broad thumb, Cataract	ORPHA:3173
Mullerian Aplasia And Hyperandrogenism	Abnormal external genitalia, Unilateral renal agenesis, Increased circulating dehydroepiandroster...	OMIM:158330
Hemophagocytic Lymphohistiocytosis, Familial, 4	Hepatomegaly, Splenomegaly, Jaundice, Lymphadenopathy, Conjunctivitis	OMIM:603552
Peroxisome Biogenesis Disorder 2A (Zellweger)	Intrahepatic biliary dysgenesis, Hepatomegaly, Cataract, Brushfield spots, Cryptorchidism, Jaundi...	OMIM:214110
Generalized Glucocorticoid Resistance Syndrome	Increased urinary cortisol level, Adrenal hyperplasia, Precocious puberty, Increased circulating ...	ORPHA:786
Solitary Median Maxillary Central Incisor	Microphthalmia, Anophthalmia	OMIM:147250
Hydrolethalus	Microphthalmia, Anophthalmia	ORPHA:2189
Mast Cell Sarcoma	Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy	ORPHA:66661
Deafness, Autosomal Dominant 34, With Or Without Inflammation	Conjunctivitis, Lymphadenopathy	OMIM:617772
Microphthalmia With Brain And Digit Anomalies	Microphthalmia, Anophthalmia	ORPHA:139471
Immunodeficiency 54	Hepatomegaly, Splenomegaly, Adrenocorticotropic hormone excess, Lymphadenopathy, Adrenal insuffic...	OMIM:609981
Cerebrooculonasal Syndrome	Anophthalmia	ORPHA:66625
Congenital Rubella Syndrome	Hepatomegaly, Atrial septal defect, Cataract, Corneal opacity, Ventricular septal defect, Splenom...	ORPHA:290
Familial Hyperaldosteronism Type I	Adrenal hyperplasia, Dexamethasone-suppressible primary hyperaldosteronism, Abnormal circulating ...	ORPHA:403
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs	Ventricular septal defect, Hypospadias, Ovotestis, Sex reversal, Adrenal gland agenesis	OMIM:611812
Pigmented Nodular Adrenocortical Disease, Primary, 3	Increased circulating cortisol level, Adrenal hyperplasia	OMIM:614190
Autoimmune Lymphoproliferative Syndrome, Type Iii	Hepatomegaly, Generalized lymphadenopathy, Follicular hyperplasia, Mediastinal lymphadenopathy, S...	OMIM:615559
Congenital Alveolar Capillary Dysplasia	Absent gallbladder, Bicuspid aortic valve, Ventricular septal defect, Asplenia, Pulmonary valve a...	ORPHA:210122
Lymphedema-Hypoparathyroidism Syndrome	Hypoparathyroidism, Renal insufficiency, Cataract, Pulmonary lymphangiectasia, Mitral valve prola...	OMIM:247410
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	Microphthalmia, Anophthalmia	ORPHA:77298
Immunodeficiency, Common Variable, 2	Hepatomegaly, Follicular hyperplasia, Splenomegaly, Lymphadenopathy, Conjunctivitis	OMIM:240500
Borjeson-Forssman-Lehmann Syndrome	Hypoplasia of penis, Small scrotum, Cataract, Tapered finger, Cryptorchidism, Short toe, Hypogona...	ORPHA:127
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome	Cryptorchidism, Cataract, Hypogonadism, External genital hypoplasia	ORPHA:363741
Hydatidiform Mole	Menometrorrhagia, Hyperthyroidism, Enlarged uterus	ORPHA:99927
Manitoba Oculotrichoanal Syndrome	Microphthalmia, Anophthalmia	OMIM:248450
Woodhouse-Sakati Syndrome	Decreased serum testosterone concentration, Streak ovary, Premature ovarian insufficiency, Decrea...	ORPHA:3464
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism	Cataract, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, ...	OMIM:300845
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome	Hypoparathyroidism, Renal insufficiency, Diabetes mellitus, Septate vagina, Unilateral renal agen...	ORPHA:2237
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation	Hepatosplenomegaly, Clubbing of fingers, Lymphadenopathy	OMIM:618982
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease	Hepatomegaly, Diabetes mellitus, Congenital hip dislocation, Ulnar deviation of the 3rd finger, P...	ORPHA:456312
Acth-Independent Macronodular Adrenal Hyperplasia	Adrenal hyperplasia, Decreased circulating ACTH concentration, Increased circulating cortisol lev...	OMIM:219080
Blepharophimosis, Ptosis, And Epicanthus Inversus	Premature ovarian insufficiency, Female infertility, Increased circulating gonadotropin level, Ir...	OMIM:110100
Triploidy	Hepatomegaly, Hypoplasia of penis, Cataract, Hypospadias, Finger syndactyly, Abnormality of the p...	ORPHA:3376
Galactokinase Deficiency	Hepatomegaly, Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Cataract, Hyperins...	ORPHA:79237
Congenital Toxoplasmosis	Hepatomegaly, Jaundice, Cardiomegaly, Lymphadenopathy	ORPHA:858
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome	Hypoparathyroidism, Proteinuria, Septate vagina, Chronic kidney disease, Uterus didelphys, Primar...	OMIM:146255
Myotonic Dystrophy 1	Hypogonadism, Cholelithiasis, Cataract, Testicular atrophy	OMIM:160900
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome	Cataract, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, ...	ORPHA:280679
Campomelia, Cumming Type	Bowing of the long bones, Polycystic liver disease, Pancreatic cysts, Polycystic kidney dysplasia...	OMIM:211890
Woodhouse-Sakati Syndrome	Decreased serum testosterone concentration, Decreased serum insulin-like growth factor 1, Prematu...	OMIM:241080
Alpha-Heavy Chain Disease	Hepatomegaly, Splenomegaly, Lymphadenopathy	ORPHA:100025
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull	Clinodactyly of the 5th finger, Syndactyly, Toe syndactyly, Testicular atrophy	OMIM:601163
Igg4-Related Submandibular Gland Disease	Renal insufficiency, Cholangitis, Retroperitoneal fibrosis, Abnormality of the thyroid gland, Pro...	ORPHA:449432
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia	Hypoparathyroidism, Chronic active hepatitis, Premature ovarian insufficiency, Female hypogonadis...	OMIM:240300
Dextrocardia	Congenital hip dislocation, Dextrocardia, Abnormal reproductive system morphology, Abnormality of...	ORPHA:1666
Mayer-Rokitansky-Kuster-Hauser Syndrome	Hypoplasia of the uterus, Aplasia of the vagina, Amenorrhea	OMIM:277000
Megalocornea	Iridodonesis, Cataract, Mosaic corneal dystrophy, Deep anterior chamber, Iris transillumination d...	OMIM:309300
Fish-Eye Disease	Hepatomegaly, Splenomegaly, Corneal opacity, Lymphadenopathy	ORPHA:79292
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism	Decreased response to growth hormone stimulation test, Hypoplasia of the uterus, Delayed puberty,...	OMIM:615866
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis	Bifid scrotum, Fused labia majora, Decreased circulating cortisol level, Small scrotum, Femoral b...	OMIM:201750
Hyperaldosteronism, Familial, Type Iii	Adrenal hyperplasia, Polyuria, Hypercalciuria, Hyperaldosteronism, Decreased circulating renin level	OMIM:613677
Lig4 Syndrome	Hepatomegaly, Hypoplasia of penis, Cryptorchidism, Lymphadenopathy, Type II diabetes mellitus, Cl...	ORPHA:99812
Immunodeficiency 64 With Lymphoproliferation	Splenomegaly, Mediastinal lymphadenopathy, Cervical lymphadenopathy, Lymphadenopathy, Hepatosplen...	OMIM:618534
Fryns Syndrome	Bifid scrotum, Ureteral duplication, Ectopic pancreatic tissue, Proximal placement of thumb, Rena...	OMIM:229850
Lymphoproliferative Syndrome 3	Hepatosplenomegaly, Lymphadenopathy	OMIM:618261
Aarskog-Scott Syndrome	Short palm, Hyperextensibility of the finger joints, Syndactyly, Elevated circulating luteinizing...	OMIM:305400
Microphthalmia With Limb Anomalies	Microphthalmia, Anophthalmia	OMIM:206920
Pigmented Nodular Adrenocortical Disease, Primary, 4	Primary hypercortisolism, Diabetes mellitus, Increased circulating cortisol level, Adrenal hyperp...	OMIM:615830
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly	Hepatomegaly, Cataract, Proteinuria, Glomerulonephritis, Supernumerary nipple, Short iliac bones,...	OMIM:614376
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant	Splenomegaly, Lymphadenopathy	OMIM:615513
Immunodeficiency 78 With Autoimmunity And Developmental Delay	Lymphadenopathy, Fluctuating splenomegaly	OMIM:619220
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency	Fused labia majora, Decreased circulating cortisol level, Renal salt wasting, Ambiguous genitalia...	ORPHA:90794
Vacterl/Vater Association	Bifid scrotum, Finger syndactyly, Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias,...	ORPHA:887
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Ambiguous genitalia, Pancreatic fibrosis, Ventricular septal defect, Preaxial hand polydactyly, P...	OMIM:263520
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency	Hepatomegaly, Glomerulonephritis, Splenomegaly, Thyroiditis, Lymphadenopathy	OMIM:619375
Trisomy 8P	Short fourth metatarsal, Abnormal atrioventricular connection, Nephrocalcinosis, Aplasia/Hypoplas...	ORPHA:264450
19Q13.11 Microdeletion Syndrome	Bifid scrotum, Finger syndactyly, Cataract, Hypospadias, Ventricular septal defect, Supernumerary...	ORPHA:217346
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia	Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy	OMIM:300853
Acquired Hypertrichosis Lanuginosa	Ovarian neoplasm, Lymphadenopathy	ORPHA:2221
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome	Cryptorchidism, Cataract, Hypogonadism	OMIM:601794
Lumbar Syndrome	Bifid scrotum, Hypospadias, Bifid uterus, Cryptorchidism, Vesicoureteral reflux, Hypoplastic labi...	ORPHA:83628
Tetraamelia-Multiple Malformations Syndrome	Multicystic kidney dysplasia, Cataract, Missing ribs, Cryptorchidism, Abnormal rib morphology, Mi...	ORPHA:3301
Medullary Thyroid Carcinoma	Primary hyperparathyroidism, Abnormal liver parenchyma morphology, Lymphadenopathy, Pheochromocyt...	ORPHA:1332
Thyroid Lymphoma	Hyperthyroidism, Lymphadenopathy, Hypothyroidism, Hashimoto thyroiditis, Goiter	ORPHA:97285
Spinal And Bulbar Muscular Atrophy, X-Linked 1	Testicular atrophy, Decreased fertility	OMIM:313200
Cockayne Syndrome Type 2	Anophthalmia	ORPHA:90322
Hereditary Leiomyomatosis And Renal Cell Cancer	Uterine leiomyoma, Uterine leiomyosarcoma, Vaginal neoplasm, Cataract	ORPHA:523
Aniridia-Absent Patella Syndrome	Aniridia, Cryptorchidism, Cataract, Aplasia/Hypoplasia of the patella	ORPHA:1069
Peters Plus Syndrome	Ureteral duplication, Bicuspid pulmonary valve, Microcornea, Clitoral hypoplasia, Clinodactyly of...	ORPHA:709
Feingold Syndrome	Hallux valgus, Toe syndactyly, Abnormality of the spleen, Deviation of the 2nd finger, Clinodacty...	ORPHA:1305
Immunodeficiency 52	Splenomegaly, Lymphadenopathy	OMIM:617514
Kaposiform Lymphangiomatosis	Abnormal ischium morphology, Abnormal pelvis bone morphology, Metrorrhagia, Abnormal humerus morp...	ORPHA:464329
Pfapa Syndrome	Hepatomegaly, Splenomegaly, Lymphadenopathy	ORPHA:42642
Immunodeficiency 27A	Hypoplasia of the femoral head, Splenomegaly, Enlarged mesenteric lymph node, Lymphadenopathy, He...	OMIM:209950
Immunodeficiency 76	Splenomegaly, Lymphadenopathy	OMIM:619164
Walker-Warburg Syndrome	Microphthalmia, Anophthalmia	ORPHA:899
Lymphatic Filariasis	Proteinuria, Glomerulonephritis, Orchitis, Lymphadenitis, Abnormality of the lymphatic system, Ep...	ORPHA:2035
Trisomy 1Q	Anophthalmia	ORPHA:261344
Heme Oxygenase 1 Deficiency	Hepatomegaly, Proteinuria, Asplenia, Cervical lymphadenopathy, Lymphadenopathy, Hematuria, Chemos...	OMIM:614034
Martinez-Frias Syndrome	Hypoplasia of the gallbladder, Hypospadias, Extrahepatic biliary duct atresia, Annular pancreas, ...	OMIM:601346
Warburg Micro Syndrome 2	Small scrotum, Cataract, Overlapping toe, Cryptorchidism, Developmental cataract, Hypoplastic lab...	OMIM:614225
Jacobsen Syndrome	Hypospadias, Ventricular septal defect, Missing ribs, Cryptorchidism, Microcornea, Clitoral hypop...	OMIM:147791
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease	Multicystic kidney dysplasia, Absent vas deferens, Hypospadias, Diabetes mellitus, Renal insuffic...	ORPHA:93111
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease	Increased urinary cortisol level, Abnormal response to corticotropin releasing hormone stimulatio...	ORPHA:189427
Familial Pancreatic Carcinoma	Pancreatic adenocarcinoma, Diabetes mellitus, Jaundice, Extrahepatic cholestasis, Lymphadenopathy...	ORPHA:1333
Meckel Syndrome, Type 7	Multicystic kidney dysplasia, Portal hypertension, Pancreatic cysts, Situs inversus totalis, Bili...	OMIM:267010
Acth-Independent Macronodular Adrenal Hyperplasia 2	Increased urinary cortisol level, Decreased circulating ACTH concentration, Macronodular adrenal ...	OMIM:615954
Jacobsen Syndrome	Broad hallux phalanx, Finger syndactyly, Cataract, Ventricular septal defect, Toe syndactyly, Mul...	ORPHA:2308
Kapur-Toriello Syndrome	Cataract, Ventricular septal defect, Camptodactyly of finger, Cryptorchidism, Short thumb, Hypopl...	OMIM:244300
Fanconi Anemia, Complementation Group D2	Hypergonadotropic hypogonadism, Absent thumb, Absent radius, Cryptorchidism, Short thumb, Preaxia...	OMIM:227646
1P36 Deletion Syndrome	Hypoplasia of penis, Abnormality of the spleen, Renal cyst, Abnormality of the liver, Clinodactyl...	ORPHA:1606
Classic Mycosis Fungoides	Hepatomegaly, Splenomegaly, Lymphadenopathy	ORPHA:2584
Pseudohypoparathyroidism, Type Ia	Short metacarpal, Cataract, Short toe, Short metatarsal, Pseudohypoparathyroidism, Elevated circu...	OMIM:103580
Harrod Syndrome	Multicystic kidney dysplasia, Cataract, Arachnodactyly, Hypospadias, Cryptorchidism, Abnormal sho...	ORPHA:2115
Pseudohypoparathyroidism, Type Ic	Short metacarpal, Cataract, Elevated circulating thyroid-stimulating hormone concentration, Short...	OMIM:612462
Primary Unilateral Adrenal Hyperplasia	Glucocortocoid-insensitive primary hyperaldosteronism, Increased urinary potassium, Adrenal hyper...	ORPHA:231580
H Syndrome	Hallux valgus, Diabetes mellitus, Enlarged kidney, Lymphadenopathy, Hepatosplenomegaly, Azoosperm...	ORPHA:168569
Oeis Complex	11 pairs of ribs, Congenital hip dislocation, Hydroureter, Bifid uterus, Cryptorchidism, Epispadi...	OMIM:258040
Poems Syndrome	Diabetes mellitus, Abnormality of the endocrine system, Pericardial effusion, Metaphyseal scleros...	ORPHA:2905
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Splenomegaly, Lymphadenopathy, Hepatosplenomegaly	OMIM:613101
Dyskeratosis Congenita, Autosomal Recessive 2	Testicular atrophy, Bone marrow hypocellularity, Cirrhosis	OMIM:613987
Omenn Syndrome	Hepatomegaly, Splenomegaly, Short toe, Thyroiditis, Lymphadenopathy, Nephrotic syndrome, Abnormal...	ORPHA:39041
Pleural Mesothelioma	Hepatomegaly, Lymphadenopathy	ORPHA:50251
Schnitzler Syndrome	Hepatomegaly, Splenomegaly, Lymphadenopathy	ORPHA:37748
Peters-Plus Syndrome	Hypoplasia of the vagina, Ureteral duplication, Bilobate gallbladder, Proximal placement of thumb...	OMIM:261540
Nephroblastoma	Aniridia, Neoplasm of the liver, Hematuria, Lymphadenopathy	ORPHA:654
Leukocyte Adhesion Deficiency, Type Iii	Hepatomegaly, Splenomegaly, Abnormal lymph node morphology, Hepatosplenomegaly	OMIM:612840
Immunodeficiency, Common Variable, 1	Hepatomegaly, Splenomegaly, Conjunctivitis, Lymphadenopathy	OMIM:607594
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies	Absent external genitalia, Missing ribs, Rib fusion, Thin ribs, Urethral atresia, Aplasia of the ...	OMIM:271520
Activated Pi3K-Delta Syndrome	Hepatomegaly, Splenomegaly, Recurrent tonsillitis, Lymphadenopathy	ORPHA:397596
Proteus-Like Syndrome	Thymus hyperplasia, Cataract, Splenomegaly, Abnormal pupil morphology, Abnormality of the parathy...	ORPHA:2969
Meckel Syndrome 14	Syndactyly, Bowing of the long bones, Postaxial polydactyly, Postaxial hand polydactyly, Postaxia...	OMIM:619879
Dahlberg-Borer-Newcomer Syndrome	Hypoparathyroidism, Brachydactyly, Cataract, Renal insufficiency, Mitral valve prolapse, Nephropa...	ORPHA:1563
Griscelli Syndrome Type 2	Hepatomegaly, Splenomegaly, Jaundice, Lymphadenopathy, Iris hypopigmentation	ORPHA:79477
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1	Hepatomegaly, Diabetes mellitus, Pancreatic fibrosis, Ulnar deviation of the 3rd finger, Proximal...	OMIM:616263
Phocomelia, Schinzel Type	Hypoplasia of penis, Radial bowing, Bowing of the long bones, Aplasia of the ulna, Cryptorchidism...	ORPHA:2879
Bardet-Biedl Syndrome 1	Syndactyly, Diabetes mellitus, Cataract, Postaxial polydactyly, Nephrogenic diabetes insipidus, P...	OMIM:209900
Tularemia	Abnormal nasopharyngeal adenoid morphology, Cervical lymphadenopathy, Mediastinal lymphadenopathy...	ORPHA:3392
Pagod Syndrome	Multicystic kidney dysplasia, Situs inversus totalis, Abnormality of the spleen, Abnormal rib mor...	ORPHA:991
Pearson Syndrome	Decreased response to growth hormone stimulation test, Renal cyst, Abnormality of the liver, Hypo...	ORPHA:699
Caspase 8 Deficiency	Splenomegaly, Lymphadenopathy	OMIM:607271
Beckwith-Wiedemann Syndrome	Ureteral duplication, Cardiomegaly, Vesicoureteral reflux, Hepatoblastoma, Nephropathy, Hypothyro...	ORPHA:116
Generalized Eruptive Histiocytosis	Lymphadenopathy	ORPHA:157991
Immunodeficiency With Hyper-Igm, Type 2	Lymphadenopathy	OMIM:605258
Chromosome 17Q12 Deletion Syndrome	Long toe, Multicystic kidney dysplasia, Unilateral renal agenesis, Cryptorchidism, Long fingers, ...	OMIM:614527
Bone Marrow Failure Syndrome 3	Metaphyseal dysplasia, Congenital hip dislocation, Pancreatic steatosis, Cryptorchidism, Astigmat...	OMIM:617052
Rosaï-Dorfman Disease	Lymphadenopathy	ORPHA:158014
Exfoliation Syndrome	Cataract, Abnormal lens morphology, Anisocoria, Pseudoexfoliation, Pigment deposition in the trab...	OMIM:177650
Anaplastic Thyroid Carcinoma	Goiter, Nodular goiter, Anaplastic thyroid carcinoma, Lymphadenopathy	ORPHA:142
Classic Hodgkin Lymphoma	Hepatomegaly, Splenomegaly, Bone marrow hypocellularity, Lymphadenopathy	ORPHA:391
Legionnaires Disease	Pericarditis, Renal insufficiency, Proteinuria, Splenomegaly, Jaundice, Myocarditis, Hepatitis, E...	ORPHA:549
Nephronophthisis 13	Global glomerulosclerosis, Proteinuria, Pancreatic cysts, Renal hypoplasia, Stage 5 chronic kidne...	OMIM:614377
Cold Agglutinin Disease	Hepatomegaly, Splenomegaly, Abnormal urinary color, Lymphadenopathy	ORPHA:56425
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome	Microphthalmia, Anophthalmia	OMIM:615877
Igg4-Related Thyroid Disease	Pancreatic fibrosis, Retroperitoneal fibrosis, Thyrotoxicosis with diffuse goiter, Abnormal pitui...	ORPHA:64744
Myhre Syndrome	Abnormal penis morphology, Brachydactyly, Cataract, Hypospadias, External genital hypoplasia, Pre...	ORPHA:2588
Systemic-Onset Juvenile Idiopathic Arthritis	Hepatomegaly, Splenomegaly, Pericarditis, Lymphadenopathy	ORPHA:85414
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism	Hepatomegaly, Diabetes mellitus, Portal hypertension, Pancreatic cysts, Splenomegaly, Development...	OMIM:610199
Anterior Segment Dysgenesis 8	Iridodonesis, Cataract, Ectopia lentis, Uveal ectropion, Hypoplasia of the iris, Iris transillumi...	OMIM:617319
Glycogen Storage Disease Ib	Hepatomegaly, Pancreatic fibrosis, Proteinuria, Splenomegaly, Delayed puberty, Nephrolithiasis, F...	OMIM:232220
Hypoparathyroidism, Familial Isolated, 1	Hypoparathyroidism, Nephrocalcinosis, Cataract, Decreased circulating parathyroid hormone level	OMIM:146200
Acrocephalopolydactylous Dysplasia	Hepatomegaly, Pancreatic fibrosis, Postaxial hand polydactyly, Hepatic fibrosis, Polysplenia, Cys...	OMIM:200995
Pseudomyxoma Peritonei	Abnormal peritoneum morphology, Lymphadenopathy	ORPHA:26790
Hypocomplementemic Urticarial Vasculitis	Hepatomegaly, Renal insufficiency, Abnormal heart valve morphology, Proteinuria, Pericardial effu...	ORPHA:36412
Immunodeficiency With Hyper-Igm, Type 3	Absence of lymph node germinal center	OMIM:606843
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins	Hydroureter, Hypospadias, Bicuspid aortic valve, Parachute mitral valve, Ventricular septal defec...	OMIM:265380
Griscelli Syndrome	Hepatomegaly, Splenomegaly, Jaundice, Hepatitis, Lymphadenopathy, Bone marrow hypocellularity, Ir...	ORPHA:381
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Hepatomegaly, Splenomegaly, Lymphadenopathy	OMIM:618495
Rhabdoid Tumor	Hematuria, Neoplasm of the liver, Lymphadenopathy	ORPHA:69077
Familial Cold Autoinflammatory Syndrome 2	Splenomegaly, Lymphadenopathy	OMIM:611762
Townes-Brocks Syndrome	Bifid scrotum, Hypoplasia of penis, Ectopic kidney, Abnormality of the uterus, Triphalangeal thum...	ORPHA:857
Indolent Systemic Mastocytosis	Hepatomegaly, Splenomegaly, Lymphadenopathy	ORPHA:98848
Atelosteogenesis Type I	Short femur, Abnormal ossification involving the femoral head and neck, Abnormal fibula morpholog...	ORPHA:1190
Schinzel-Giedion Midface Retraction Syndrome	Small scrotum, Increased density of long bones, Tibial bowing, Hypoplasia of first ribs, Atrial s...	OMIM:269150
Immunodeficiency 109 With Lymphoproliferation	Splenomegaly, Generalized lymphadenopathy	OMIM:620282
Autoimmune Polyendocrine Syndrome, Type Ii	Hyperthyroidism, Cataract, Band keratopathy, Asplenia, Primary adrenal insufficiency, Hepatitis, ...	OMIM:269200
Campomelia, Cumming Type	Hepatomegaly, Bowing of the long bones, Multicystic kidney dysplasia, Pancreatic cysts, Abnormali...	ORPHA:1318
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus	Streak ovary, Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Elevated circulati...	ORPHA:572333
Mayer-Rokitansky-Küster-Hauser Syndrome	Hypoplasia of the vagina, Unilateral renal agenesis, Ectopic kidney, Horseshoe kidney, Aplasia of...	ORPHA:3109
Codas Syndrome	Short humerus, Short metacarpal, Cataract, Ventricular septal defect, Congenital hip dislocation,...	OMIM:600373
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Hepatomegaly, Renal insufficiency, Portal hypertension, Absence of renal corticomedullary differe...	OMIM:263200
Ulna And Fibula, Absence Of, With Severe Limb Deficiency	Small scrotum, Femoral bowing, Anteriorly displaced genitalia, Foot oligodactyly, Aplasia/Hypopla...	OMIM:276820
Immunodeficiency 91 And Hyperinflammation	Hepatomegaly, Renal insufficiency, Membranoproliferative glomerulonephritis, Hemolytic-uremic syn...	OMIM:619644
Bohring-Opitz Syndrome	Syndactyly, Ventricular septal defect, Overlapping toe, Supernumerary nipple, Tapered finger, Sho...	OMIM:605039
Cushing Syndrome Due To Ectopic Acth Secretion	Adrenal hyperplasia, Pancreatoblastoma, Pituitary corticotropic cell adenoma, Neoplasm of the thy...	ORPHA:99889
Immunodeficiency 105	Hepatosplenomegaly, Absence of lymph node germinal center	OMIM:619924
Rothmund-Thomson Syndrome, Type 2	Cataract, Congenital hip dislocation, Cryptorchidism, Short thumb, Small hand, Microcornea, Short...	OMIM:268400
Transketolase Deficiency	Hepatomegaly, Atrial septal defect, Cataract, Ventricular septal defect, Increased level of ribos...	ORPHA:488618
Doors Syndrome	11 pairs of ribs, Increased urine alpha-ketoglutarate concentration, Cataract, Adrenal hyperplasi...	ORPHA:79500
Cockayne Syndrome Type 1	Anophthalmia	ORPHA:90321
Immunodeficiency 103, Susceptibility To Fungal Infections	Lymphadenopathy	OMIM:212050
Immunodeficiency 32A	Lymphadenitis, Lymphadenopathy	OMIM:614893
Agammaglobulinemia, X-Linked	Enteroviral hepatitis, Epididymitis, Cor pulmonale, Lymph node hypoplasia, Conjunctivitis, Hepato...	OMIM:300755
Telo2-Related Intellectual Disability-Neurodevelopmental Disorder	Hip contracture, Overlapping toe, Rocker bottom foot, Tapered finger, 4-5 toe syndactyly, Annular...	ORPHA:488642
Microphthalmia, Syndromic 3	Microphthalmia, Optic nerve aplasia, Anophthalmia, Optic nerve hypoplasia	OMIM:206900
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies	Hypothyroidism, Lymphadenopathy, Hepatosplenomegaly	OMIM:619750
Townes-Brocks Syndrome 1	Bifid scrotum, Short metatarsal, Triphalangeal thumb, Atrial septal defect, Vesicoureteral reflux...	OMIM:107480
American Trypanosomiasis	Hepatomegaly, Splenomegaly, Myocarditis, Lymphadenopathy, Cardiomyopathy	ORPHA:3386
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Acute pancreatitis, Splenomegaly, Lymphadenitis, Recurrent tonsillitis, Lymphadenopathy, Hepatosp...	OMIM:618935
Distal Deletion 12Q	Diabetes mellitus, Unilateral cryptorchidism, Broad hallux, Maturity-onset diabetes of the young,...	ORPHA:96149
Bent Bone Dysplasia Syndrome 2	Hepatomegaly, Bowed humerus, Hypoplastic iliac wing, Ulnar bowing, Hypoplastic acetabulae, Femora...	OMIM:620076
Lymphoproliferative Syndrome 2	Hepatomegaly, Splenomegaly, Lymphadenopathy, Hepatosplenomegaly	OMIM:615122
Papa Syndrome	Type I diabetes mellitus, Proteinuria, Lymphadenopathy	ORPHA:69126
Ras-Associated Autoimmune Leukoproliferative Disorder	Hepatomegaly, Splenomegaly, Follicular hyperplasia	OMIM:614470
Vacterl With Hydrocephalus	Microphthalmia, Anophthalmia	ORPHA:3412
Exstrophy-Epispadias Complex	Bifid scrotum, Renal insufficiency, Urinary incontinence, Bifid uterus, Cryptorchidism, Epispadia...	ORPHA:322
Spondyloepimetaphyseal Dysplasia, Krakow Type	Decreased serum insulin-like growth factor 1, 2-3 toe syndactyly, Delayed pubic bone ossification...	OMIM:618162
17Q12 Microdeletion Syndrome	Multicystic kidney dysplasia, Diabetes mellitus, Renal insufficiency, Cryptorchidism, Ureterocele...	ORPHA:261265
Otopalatodigital Syndrome Type 2	Bowing of the long bones, Cataract, Abnormal heart valve morphology, Hypospadias, Short hallux, T...	ORPHA:90652
Autosomal Dominant Polycystic Kidney Disease	Renal insufficiency, Polycystic liver disease, Decreased glomerular filtration rate, Pancreatic c...	ORPHA:730
Shwachman-Diamond Syndrome 2	Hepatomegaly, Anterior rib cupping, Exocrine pancreatic insufficiency, Metaphyseal widening, Hype...	OMIM:617941
Coccidioidomycosis	Abnormal sperm morphology, Pericarditis, Renal insufficiency, Abnormality of the endocrine system...	ORPHA:228123
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency	Absent tonsils, Absence of lymph node germinal center	ORPHA:277
Autoimmune Lymphoproliferative Syndrome, Type Iia	Hepatomegaly, Chronic noninfectious lymphadenopathy, Follicular hyperplasia, Splenomegaly, Lympha...	OMIM:603909
Alveolar Echinococcosis	Liver abscess, Abnormal pelvis bone morphology, Cholangitis, Portal hypertension, Abnormal perica...	ORPHA:284
Middle Ear Neuroendocrine Tumor	Neuroendocrine neoplasm, Chronic noninfectious lymphadenopathy, Carcinoid tumor	ORPHA:100084
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias	Lymphadenopathy, Follicular hyperplasia	OMIM:619846
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome	Microphthalmia, Anophthalmia	ORPHA:2250
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency	Lymph node hypoplasia, Jaundice, Absent tonsils, Hepatomegaly	ORPHA:276
Permanent Neonatal Diabetes Mellitus-Pancreatic And Cerebellar Agenesis Syndrome	Neonatal insulin-dependent diabetes mellitus, Aplasia/Hypoplasia of the pancreas	ORPHA:65288
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Splenomegaly, Lymphadenopathy	OMIM:150550
Wolf-Hirschhorn Syndrome	Atrial septal defect, Iris coloboma, Accessory spleen, Hypospadias, Pseudoepiphyses of the metaca...	OMIM:194190
Senior-Loken Syndrome 8	Global glomerulosclerosis, Pancreatic cysts, Stage 5 chronic kidney disease, Polydactyly, Nephron...	OMIM:616307
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome	Aniridia, Anophthalmia	ORPHA:1101
Tropical Pancreatitis	Pancreatic adenocarcinoma, Maternal diabetes, Jaundice, Insulin-dependent but ketosis-resistant d...	ORPHA:103918
Castleman Disease	Renal insufficiency, Generalized lymphadenopathy, Follicular hyperplasia, Mediastinal lymphadenop...	ORPHA:160
Immunodeficiency 7	Hepatomegaly, Splenomegaly, Lymphadenopathy	OMIM:615387
Scrub Typhus	Myocarditis, Splenomegaly, Renal insufficiency, Lymphadenopathy	ORPHA:83317
Duodenal Atresia	Abnormality of the pancreas, Annular pancreas	ORPHA:1203
Multiple Endocrine Neoplasia Type 2	Paraganglioma of head and neck, Cervical neoplasm, Elevated urinary catecholamine level, Thyroid ...	ORPHA:653
Immunodeficiency With Hyper-Igm, Type 4	Absence of lymph node germinal center	OMIM:608184
Combined Immunodeficiency Due To Zap70 Deficiency	Lymphadenitis, Abnormal lymph node morphology, Lymphadenopathy, Nephrotic syndrome, Hepatosplenom...	ORPHA:911
Carcinoid Syndrome	Chronic noninfectious lymphadenopathy, Hepatic necrosis, Pulmonary carcinoid tumor, Small intesti...	ORPHA:100093
Townes-Brocks Syndrome 2	Hypospadias, Bifid uterus, Rectovaginal fistula, Vesicoureteral reflux, Crossed fused renal ectopia	OMIM:617466
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart	Syndactyly, Hypospadias, Ventricular septal defect, Cryptorchidism, Vesicoureteral reflux, Renal ...	OMIM:616975
Fibular Hemimelia	Anophthalmia	ORPHA:93323
Deafness-Lymphedema-Leukemia Syndrome	Hepatomegaly, Splenomegaly, Bone marrow hypocellularity, Lymphadenopathy	ORPHA:3226
Lesch-Nyhan Syndrome	Hip dislocation, Nephrolithiasis, Hyperuricosuria, Nephrocalcinosis, Testicular atrophy	OMIM:300322
Leishmaniasis	Hepatomegaly, Splenomegaly, Lymphadenopathy	ORPHA:507
Niemann-Pick Disease, Type A	Hepatomegaly, Splenomegaly, Prolonged neonatal jaundice, Lymphadenopathy	OMIM:257200
Lymphoproliferative Syndrome, X-Linked, 1	Hepatomegaly, Splenomegaly, Fulminant hepatitis, Lymphadenopathy	OMIM:308240
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome	Pericarditis, Orchitis, Splenomegaly, Peritonitis, Abnormal sacroiliac joint morphology, Lymphade...	ORPHA:32960
Pancreatoblastoma	Jaundice, Pancreatic calcification, Abnormal lymph node morphology	ORPHA:677
Igg4-Related Kidney Disease	Lymphadenitis, Sterile pyuria, Tubulointerstitial nephritis, Cholecystitis, Abnormal ureter morph...	ORPHA:449395
Immunodeficiency 10	Hypoplasia of the iris, Lymphadenopathy	OMIM:612783
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Hepatomegaly, Splenomegaly, Lymphadenitis, Dilated cardiomyopathy, Cholestasis, Lymphadenopathy, ...	OMIM:615895
Bone Marrow Failure Syndrome 5	Hypogonadism, Testicular atrophy	OMIM:618165
Mevalonic Aciduria	Cataract, Fluctuating hepatomegaly, Fluctuating splenomegaly, Lymphadenopathy, Hepatosplenomegaly...	OMIM:610377
Familial Mediterranean Fever	Pericarditis, Proteinuria, Orchitis, Splenomegaly, Peritonitis, Lymphadenopathy, Nephrocalcinosis...	ORPHA:342
Limb-Mammary Syndrome	Syndactyly, Absent nipple, Chronic irritative conjunctivitis, Toe syndactyly, 3-4 finger cutaneou...	ORPHA:69085
Mixed Connective Tissue Disease	Hepatomegaly, Pericarditis, Splenomegaly, Mediastinal lymphadenopathy, Myocarditis, Lymphadenopat...	ORPHA:809
Holoprosencephaly	Microphthalmia, Anophthalmia	ORPHA:2162
Bronchial Neuroendocrine Tumor	Hepatomegaly, Chronic noninfectious lymphadenopathy, Elevated circulating growth hormone concentr...	ORPHA:97287
Autoimmune Lymphoproliferative Syndrome	Hepatomegaly, Splenomegaly, Chronic noninfectious lymphadenopathy, Follicular hyperplasia	OMIM:601859
Mitchell-Riley Syndrome	Absent gallbladder, Diabetes mellitus, Biliary atresia, Cholestasis, Acholic stools, Annular panc...	OMIM:615710
Anterior Segment Dysgenesis 7	Cataract, Corneal opacity, Sclerocornea, Microcornea, Buphthalmos, Anterior synechiae of the ante...	OMIM:269400
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Accessory spleen, 11 pairs of ribs, Cataract, Portal hypertension, Tapered finger, Cryptorchidism...	OMIM:620005
Lymphoproliferative Syndrome 1	Hepatomegaly, Splenomegaly, Pericardial effusion, Lymphadenopathy	OMIM:613011
Adult-Onset Still Disease	Hepatomegaly, Pericarditis, Generalized lymphadenopathy, Splenomegaly, Myocarditis, Hepatitis, Bo...	ORPHA:829
Aceruloplasminemia	Diabetes mellitus, Abnormal pancreas morphology, Hepatic fibrosis, Cirrhosis, Elevated hepatic ir...	ORPHA:48818
Acro-Renal-Ocular Syndrome	Microcornea, Triphalangeal thumb, Vesicoureteral reflux, Iris coloboma, Hypoplasia of the ulna, F...	ORPHA:959
Okamoto Syndrome	Ureteropelvic junction obstruction, Ventricular septal defect, Urinary incontinence, Bifid uterus...	ORPHA:2729
Cerebrooculonasal Syndrome	Anophthalmia, Optic nerve hypoplasia	OMIM:605627
Klatskin Tumor	Hepatomegaly, Cholangiocarcinoma, Jaundice, Extrahepatic cholestasis, Lymphadenopathy	ORPHA:99978
Feingold Syndrome 1	Accessory spleen, Ventricular septal defect, Tricuspid stenosis, Asplenia, Short thumb, Short toe...	OMIM:164280
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome	Hypoplastic tricuspid valve, Double outlet left ventricle, Ureteral duplication, Neonatal insulin...	ORPHA:2255
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1	Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Cataract, Primary amenorrhea, Se...	OMIM:157640
Pancreatitis, Hereditary	Diabetes mellitus, Pancreatic calcification, Pancreatic pseudocyst, Pancreatitis, Exocrine pancre...	OMIM:167800
Cinca Syndrome	Lymphadenopathy, Hepatosplenomegaly	OMIM:607115
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency	Hypopituitarism, Absent peripheral lymph nodes in presence of infection	ORPHA:98813
Sézary Syndrome	Hepatomegaly, Splenomegaly, Lymphadenopathy	ORPHA:3162
Drug Reaction With Eosinophilia And Systemic Symptoms	Renal insufficiency, Myocarditis, Hepatitis, Thyroiditis, Lymphadenopathy, Tubulointerstitial nep...	ORPHA:139402
Malakoplakia	Proteinuria, Dysuria, Abnormality of the menstrual cycle, Orchitis, Follicular hyperplasia, Urina...	ORPHA:556
Alagille Syndrome 1	Multiple small medullary renal cysts, Microcornea, Papillary thyroid carcinoma, Vesicoureteral re...	OMIM:118450
Proteasome-Associated Autoinflammatory Syndrome 2	Clinodactyly, Brachydactyly, Lymphadenopathy	OMIM:618048
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Glomerulonephritis, Hepatitis, Lymphadenopathy, Type I diabetes mellitus, Hypothyroidism	OMIM:304790
Boutonneuse Fever	Renal insufficiency, Cervical lymphadenopathy, Lymphadenopathy	ORPHA:83313
Neuroendocrine Tumor Of The Colon	Hepatomegaly, Chronic noninfectious lymphadenopathy, Abnormal pulmonary valve cusp morphology, In...	ORPHA:100080
Immunodeficiency, Common Variable, 8, With Autoimmunity	Generalized lymphadenopathy, Splenomegaly, Thyroiditis, Lymphadenopathy, Clubbing of fingers, Con...	OMIM:614700
Lymphangioleiomyomatosis	Abnormal urinary color, Abnormality of the lymphatic system, Chylopericardium, Lymphadenopathy, H...	ORPHA:538
Immunodeficiency 27B	Generalized lymphadenopathy	OMIM:615978
Cinca Syndrome	Hepatomegaly, Splenomegaly, Brachydactyly, Lymphadenopathy	ORPHA:1451
Diffuse Cutaneous Mastocytosis	Hepatomegaly, Abnormality of the spleen, Abnormality of the liver, Lymphadenopathy	ORPHA:79456
Combined Immunodeficiency Due To Crac Channel Dysfunction	Hepatomegaly, Splenomegaly, Hypoplasia of the iris, Lymphadenopathy	ORPHA:169090
Felty Syndrome	Hepatomegaly, Pericarditis, Splenomegaly, Lymphadenopathy, Bone marrow hypocellularity	ORPHA:47612
Primary Myelofibrosis	Hepatomegaly, Portal hypertension, Splenomegaly, Lymphadenopathy, Hepatosplenomegaly	ORPHA:824
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Accessory spleen, Hepatomegaly, Ventricular septal defect, Splenomegaly, Microvesicular hepatic s...	OMIM:619418
14Q22Q23 Microdeletion Syndrome	Optic nerve aplasia, Anophthalmia	ORPHA:264200
Q Fever	Hepatomegaly, Pericarditis, Abnormal heart valve morphology, Pericardial effusion, Splenomegaly, ...	ORPHA:781
Schinzel-Giedion Syndrome	Streak ovary, Hypospadias, Overlapping toe, Overlapping fingers, Hypoplastic pubic bone, Abnormal...	ORPHA:798
Annular Pancreas	Annular pancreas	ORPHA:675
Pancreas, Annular	Annular pancreas	OMIM:167750
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly	Ureteral duplication, Cholangitis, Short metatarsal, Renal cyst, Hepatic fibrosis, Nephronophthis...	OMIM:266920
Meige Disease	Lymph node hypoplasia, Absence of lymph node germinal center	ORPHA:90186
Immunodeficiency 98 With Autoinflammation, X-Linked	Hepatomegaly, Splenomegaly, Lymphadenopathy, Bone marrow hypocellularity, Type I diabetes mellitus	OMIM:301078
Pulmonary Non-Tuberculous Mycobacterial Infection	Pericardial effusion, Lymphadenopathy	ORPHA:411703
Fanconi Anemia, Complementation Group L	Unilateral renal agenesis, Absent thumb, Absent radius, Renal hypoplasia, Bone marrow hypocellula...	OMIM:614083
Farber Disease	Corneal opacity, Intrahepatic cholestasis with episodic jaundice, Short toe, Lymphadenopathy, Hep...	ORPHA:333
Periodic Fever, Familial, Autosomal Dominant	Hepatomegaly, Cervical lymphadenopathy, Hepatic amyloidosis, Conjunctivitis, Conjunctival hyperemia	OMIM:142680
Holoprosencephaly 9	Microphthalmia, Anophthalmia, Optic nerve hypoplasia	OMIM:610829
Carney Triad	Mediastinal lymphadenopathy, Lymphadenopathy, Adrenocortical adenoma, Pheochromocytoma, Paragangl...	ORPHA:139411
Microgastria-Limb Reduction Defect Syndrome	Microphthalmia, Anophthalmia	ORPHA:2538
Omenn Syndrome	Hepatomegaly, Splenomegaly, Hypoplasia of the thymus, Lymphadenopathy	OMIM:603554
Mycosis Fungoides	Lymphadenopathy	OMIM:254400
Anterior Segment Dysgenesis 2	Cataract, Corneal opacity, Sclerocornea, Microcornea, Posterior synechiae of the anterior chamber...	OMIM:610256
Immunodeficiency With Hyper-Igm, Type 1	Hepatomegaly, Absence of lymph node germinal center, Splenomegaly, Enlarged tonsils, Hepatitis, C...	OMIM:308230
Cutaneous Mastocytoma	Lymphadenopathy	ORPHA:79455
Squamous Cell Carcinoma Of The Anal Canal	Neoplasm of the liver, Lymphadenopathy	ORPHA:424019
Microcephaly-Lymphedema-Chorioretinopathy Syndrome	Microphthalmia, Anophthalmia	ORPHA:2526
Von Hippel-Lindau Syndrome	Neoplasm of the pancreas, Pancreatic cysts, Papillary cystadenoma of the epididymis, Pheochromocy...	OMIM:193300
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency	Hepatomegaly, Splenomegaly, Thyroiditis, Lymphadenopathy, Type I diabetes mellitus	ORPHA:436159
Purine Nucleoside Phosphorylase Deficiency	Splenomegaly, Lymph node hypoplasia	OMIM:613179
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Enlarged tonsils, Thyroiditis, Lymphadenopathy, Hepatosplenomegaly, Type I diabetes mellitus, Hyp...	OMIM:606367
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome	Broad hallux, Postaxial polydactyly, Unilateral renal agenesis, Hip dysplasia, Aplasia of the vag...	ORPHA:457284
Behçet Disease	Pericarditis, Cataract, Renal insufficiency, Orchitis, Splenomegaly, Endocarditis, Lymphadenopath...	ORPHA:117
Neuroendocrine Tumor Of The Rectum	Hepatomegaly, Chronic noninfectious lymphadenopathy, Abnormal pulmonary valve cusp morphology, In...	ORPHA:100081
Neuroendocrine Tumor Of Anal Canal	Hepatomegaly, Chronic noninfectious lymphadenopathy, Abnormal pulmonary valve cusp morphology, In...	ORPHA:100082
Cyclic Neutropenia	Cervical lymphadenopathy, Recurrent tonsillitis, Peritonitis, Lymphadenopathy	ORPHA:2686
Coffin-Siris Syndrome 1	Ectopic kidney, Prominent interphalangeal joints, Prominent fingertip pads, Clinodactyly of the 5...	OMIM:135900
Von Hippel-Lindau Disease	Neoplasm of the pancreas, Elevated urinary catecholamine level, Pancreatic islet cell adenoma, Pa...	ORPHA:892
Familial Hemophagocytic Lymphohistiocytosis	Hepatomegaly, Splenomegaly, Jaundice, Lymphadenopathy, Cholestatic liver disease, Abnormal renal ...	ORPHA:540
Sarcoidosis	Nephrocalcinosis, Tubulointerstitial nephritis, Hypothyroidism, Hepatomegaly, Hyperthyroidism, Po...	ORPHA:797
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Hepatomegaly, Splenomegaly, Lymphadenopathy	OMIM:616100
Proteasome-Associated Autoinflammatory Syndrome 4	Hepatomegaly, Splenomegaly, Lymphadenopathy	OMIM:619183
Aggressive Systemic Mastocytosis	Hypersplenism, Lymphadenopathy, Portal hypertension, Hepatosplenomegaly	ORPHA:98850
Proteasome-Associated Autoinflammatory Syndrome 1	Hallux valgus, Hepatomegaly, Hypoplastic scapulae, Camptodactyly of finger, Cardiomegaly, Splenom...	OMIM:256040
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome	Syndactyly, Supernumerary nipple, Bifid uterus, Abnormal reproductive system morphology, Unilater...	ORPHA:1521
Cushing Disease	Increased urinary cortisol level, Adrenal hyperplasia, Diabetes mellitus, Paradoxical increased c...	ORPHA:96253
Neu-Laxova Syndrome 1	Finger syndactyly, Cataract, Ventricular septal defect, Toe syndactyly, Rocker bottom foot, Bifid...	OMIM:256520
Amoebic Keratitis	Iris atrophy, Cataract, Abnormal corneal epithelium morphology, Abnormal anterior chamber morphol...	ORPHA:67043
Pediatric Systemic Lupus Erythematosus	Dark urine, Renal insufficiency, Proteinuria, Pericardial effusion, Lymphadenopathy, Hematuria, N...	ORPHA:93552
Joubert Syndrome 21	Anophthalmia	OMIM:615636
Immunodeficiency 97 With Autoinflammation	Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Hepatosplenomegaly	OMIM:619802
Neuroendocrine Neoplasm Of Appendix	Hepatomegaly, Chronic noninfectious lymphadenopathy, Tricuspid stenosis, Ovarian neoplasm, Adreno...	ORPHA:100079
Brucellosis	Hepatomegaly, Pericarditis, Liver abscess, Glomerulonephritis, Hypersplenism, Splenomegaly, Orchi...	ORPHA:1304
Igg4-Related Ophthalmic Disease	Cholangitis, Retroperitoneal fibrosis, Orchitis, Keratitis, Abnormality of the anterior pituitary...	ORPHA:449563
Proteasome-Associated Autoinflammatory Syndrome 3	Hepatomegaly, Splenomegaly, Lymphadenopathy, Finger swelling, Conjunctivitis	OMIM:617591
Hyperimmunoglobulinemia D With Periodic Fever	Hepatomegaly, Peritonitis, Lymphadenopathy	ORPHA:343
Pearson Marrow-Pancreas Syndrome	Hepatomegaly, Pancreatic fibrosis, Hypercalciuria, Macronodular cirrhosis, 3-Methylglutaric acidu...	OMIM:557000
Charge Syndrome	Decreased response to growth hormone stimulation test, External genital hypoplasia, Secundum atri...	OMIM:214800
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Hepatomegaly, Portal hypertension, Absence of lymph node germinal center, Jaundice, Hepatosplenom...	ORPHA:79124
Spondyloenchondrodysplasia With Immune Dysregulation	Metaphyseal dysplasia, Short iliac bones, Metaphyseal sclerosis, Metaphyseal widening, Lymphadeno...	OMIM:607944
Ulbright-Hodes Syndrome	Abnormal penis morphology, Short humerus, Short metacarpal, Abnormal external genitalia, Enlarged...	ORPHA:3404
Macrophage Activation Syndrome	Hepatomegaly, Splenomegaly, Hepatitis, Lymphadenopathy	ORPHA:158061
X-Linked Intellectual Disability, Snyder Type	Long toe, Hypospadias, Arachnodactyly, Ectopic kidney, Cryptorchidism, Slender toe, Abnormality o...	ORPHA:3063
Pontocerebellar Hypoplasia Type 7	Abnormal scrotal rugation, Cryptorchidism, Gonadal dysgenesis, Microphallus, Absent penis, Aplasi...	ORPHA:284339
Gamma-Heavy Chain Disease	Hepatomegaly, Splenomegaly, Lymphadenopathy	ORPHA:100026
Primary Hepatic Neuroendocrine Carcinoma	Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Chronic noninfectious lymphadenopa...	ORPHA:100085
Microphthalmia With Linear Skin Defects Syndrome	Microphthalmia, Anophthalmia	ORPHA:2556
Roberts-Sc Phocomelia Syndrome	Tetraphocomelia, Atrial septal defect, Phocomelia, Accessory spleen, Syndactyly, Hypoplasia of th...	OMIM:268300
Melkersson-Rosenthal Syndrome	Oligosacchariduria, Lymphadenopathy	ORPHA:2483
Proboscis Lateralis	Microphthalmia, Anophthalmia, Optic nerve hypoplasia	ORPHA:141099
Acute Monoblastic/Monocytic Leukemia	Cervical lymphadenopathy, Oliguria, Central hypothyroidism	ORPHA:514
Kikuchi-Fujimoto Disease	Hepatomegaly, Generalized lymphadenopathy, Splenomegaly, Cervical lymphadenopathy, Myocarditis, A...	ORPHA:50918
Orofaciodigital Syndrome I	Syndactyly, Proteinuria, Pancreatic cysts, Abnormal heart morphology, Ovarian cyst, Short 2nd toe...	OMIM:311200
Bohring-Opitz Syndrome	Cardiomegaly, Abnormal cardiac septum morphology, Urinary retention, Metacarpophalangeal joint co...	ORPHA:97297
Norrie Disease	Diabetes mellitus, Aplasia/Hypoplasia of the lens, Corneal opacity, Sclerocornea, Cataract, Ectop...	ORPHA:649
Ileal Neuroendocrine Tumor	Tricuspid stenosis, Extrahepatic cholestasis, Lymphadenopathy, Small intestine carcinoid, Increas...	ORPHA:100078
Chediak-Higashi Syndrome	Hepatomegaly, Splenomegaly, Jaundice, Ocular albinism, Lymphadenopathy, Iris hypopigmentation	OMIM:214500
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type	Hypoplasia of penis, Cataract, Urethrovaginal fistula, Cryptorchidism, Congenital hepatic fibrosi...	ORPHA:93271
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Lymphadenopathy, Hepatosplenomegaly	ORPHA:169154
Fraser Syndrome 1	Anophthalmia, Bilateral microphthalmos	OMIM:219000
Pancreatic Agenesis 2	Exocrine pancreatic insufficiency, Diabetes mellitus, Pancreatic hypoplasia, Pancreatic aplasia	OMIM:615935
Charge Syndrome	Microphthalmia, Anophthalmia	ORPHA:138
Autosomal Recessive Polycystic Kidney Disease	Cholangitis, Biliary hyperplasia, Abnormal intrahepatic bile duct morphology, Hepatic fibrosis, H...	ORPHA:731
Crimean-Congo Hemorrhagic Fever	Hepatomegaly, Acute pancreatitis, Proteinuria, Orchitis, Splenomegaly, Jaundice, Epididymitis, Pe...	ORPHA:99827
Neuroendocrine Tumor Of Stomach	Hepatomegaly, Chronic noninfectious lymphadenopathy, Abnormal pulmonary valve cusp morphology, In...	ORPHA:100075
Steinert Myotonic Dystrophy	Endometrial carcinoma, Diabetes mellitus, Hypergonadotropic hypogonadism, Decreased response to g...	ORPHA:273
Otopalatodigital Syndrome, Type Ii	Congenital hip dislocation, Short metatarsal, Femoral bowing, Tibial bowing, Atrial septal defect...	OMIM:304120
Hennekam Syndrome	Finger syndactyly, Camptodactyly of finger, Ectopic kidney, Pericardial effusion, Splenomegaly, P...	ORPHA:2136
Pancreatic Agenesis 1	Pancreatic hypoplasia, Pancreatic aplasia, Neonatal insulin-dependent diabetes mellitus, Exocrine...	OMIM:260370
Pulmonary Capillary Hemangiomatosis	Pericardial effusion, Mediastinal lymphadenopathy, Clubbing of fingers, Lymphadenopathy	ORPHA:199241
Ehlers-Danlos Syndrome, Vascular Type	Keratoconus, Cryptorchidism, Cystocele, Foot acroosteolysis, Cervical insufficiency, Mitral valve...	OMIM:130050
Hemophagocytic Lymphohistiocytosis, Familial, 1	Hepatomegaly, Splenomegaly, Jaundice, Lymphadenopathy	OMIM:267700
Acute Interstitial Pneumonia	Pericardial effusion, Lymphadenopathy	ORPHA:79126
Acute Generalized Exanthematous Pustulosis	Renal insufficiency, Conjunctivitis, Cholestasis, Lymphadenopathy	ORPHA:293173
Hemophagocytic Lymphohistiocytosis, Familial, 2	Hepatomegaly, Splenomegaly, Jaundice, Lymphadenopathy, Hepatosplenomegaly	OMIM:603553
Blau Syndrome	Pericarditis, Cataract, Camptodactyly of finger, Keratitis, Splenomegaly, Stage 5 chronic kidney ...	ORPHA:90340
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Hyperthyroidism, Abnormality of the endocrine system, Splenomegaly, Hepatitis, Thyroiditis, Lymph...	ORPHA:37042
Tangier Disease	Orange discolored tonsils, Corneal opacity, Chronic noninfectious lymphadenopathy, Hepatosplenome...	ORPHA:31150
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea	Hepatomegaly, Mediastinal lymphadenopathy, Cholestasis, Mitral valve prolapse, Hilar lymph node e...	OMIM:620233
Focal Dermal Hypoplasia	Aniridia, Microphthalmia, Anophthalmia	OMIM:305600
Cutaneous Neuroendocrine Carcinoma	Carcinoid tumor, Chronic noninfectious lymphadenopathy, Merkel cell skin cancer	ORPHA:79140
Gallbladder Neuroendocrine Tumor	Chronic noninfectious lymphadenopathy, Biliary tract neoplasm, Extrahepatic cholestasis, Intermit...	ORPHA:100086
Microphthalmia, Syndromic 2	Microphthalmia, Anophthalmia	OMIM:300166
Autosomal Recessive Malignant Osteopetrosis	Hepatomegaly, Bowing of the long bones, Abnormal pulmonary valve morphology, Splenomegaly, Abnorm...	ORPHA:667
Acute Promyelocytic Leukemia	Hematuria, Metrorrhagia, Lymphadenopathy	ORPHA:520
Graft Versus Host Disease	Jaundice, Lymphadenopathy, Chronic hepatitis, Hepatosplenomegaly, Acute hepatitis	ORPHA:39812
Hyper-Igd Syndrome	Splenomegaly, Lymphadenitis, Lymphadenopathy, Hepatosplenomegaly, Renal angiomyolipoma, Elevated ...	OMIM:260920
Nephronophthisis-Like Nephropathy 1	Chronic pancreatitis, Pancreatic cysts, Stage 5 chronic kidney disease, Renal corticomedullary cy...	OMIM:613159
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe	Bifid sternum	OMIM:140850
Primary Sjögren Syndrome	Renal insufficiency, Chronic active hepatitis, Glomerulonephritis, Biliary cirrhosis, Thyroiditis...	ORPHA:289390
T-Cell Immunodeficiency With Thymic Aplasia	Aplasia of the thymus, Atypical or prolonged hepatitis, Thyroiditis, Lymphadenopathy, Hypothyroidism	ORPHA:83471
Lethal Omphalocele-Cleft Palate Syndrome	Bifid uterus	ORPHA:2736
Microphthalmia With Limb Anomalies	Microphthalmia, True anophthalmia	ORPHA:1106
Autoimmune Lymphoproliferative Syndrome	Hepatomegaly, Renal insufficiency, Premature ovarian insufficiency, Chronic noninfectious lymphad...	ORPHA:3261
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Hepatomegaly, Portal hypertension, Splenomegaly, Dilated cardiomyopathy, Lymphadenopathy, Hepatos...	OMIM:615688
Granulomatous Disease, Chronic, Autosomal Recessive, 1	Hepatomegaly, Liver abscess, Splenomegaly, Lymphadenitis, Lymphadenopathy	OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2	Hepatomegaly, Liver abscess, Splenomegaly, Lymphadenitis, Lymphadenopathy	OMIM:233710
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis	Abnormal metacarpophalangeal joint morphology, Abnormal metatarsal morphology, Lymphadenopathy, A...	ORPHA:85408
Igg4-Related Dacryoadenitis And Sialadenitis	Retroperitoneal fibrosis, Enlarged lacrimal glands, Thyroiditis, Lymphadenopathy, Enlargement of ...	ORPHA:79078
Waldenström Macroglobulinemia	Hepatomegaly, Splenomegaly, Renal insufficiency, Lymphadenopathy	ORPHA:33226
Fraser Syndrome	Microphthalmia, Anophthalmia	ORPHA:2052
Granulomatous Disease, Chronic, Autosomal Recessive, 4	Hepatomegaly, Liver abscess, Splenomegaly, Lymphadenitis, Lymphadenopathy	OMIM:233690
Immunodeficiency 31C	Hepatomegaly, Diabetes mellitus, Splenomegaly, Lymphadenopathy, Delayed puberty, Hypothyroidism	OMIM:614162
Kawasaki Disease	Pericarditis, Abnormal heart valve morphology, Proteinuria, Myocarditis, Cervical lymphadenopathy...	ORPHA:2331
Coffin-Lowry Syndrome	Hyperextensibility of the finger joints, Short metacarpal, Bifid sternum, Tapered finger, Coxa va...	OMIM:303600
African Trypanosomiasis	Hepatomegaly, Pericarditis, Renal insufficiency, Urinary incontinence, Abnormality of the menstru...	ORPHA:3385
Selective Igm Deficiency	Keratitis, Lymphadenitis, Lymphadenopathy, Thyroid carcinoma, Hashimoto thyroiditis	ORPHA:331235
Sarcoidosis, Susceptibility To, 1	Hepatomegaly, Generalized lymphadenopathy, Pericardial effusion, Splenomegaly, Mediastinal lympha...	OMIM:181000
Malt Lymphoma	Abnormality of the thyroid gland, Mediastinal lymphadenopathy, Lymphadenopathy	ORPHA:52417
Chédiak-Higashi Syndrome	Pericardial effusion, Splenomegaly, Jaundice, Lymphadenopathy, Hepatosplenomegaly, Iris hypopigme...	ORPHA:167
Systemic Mastocytosis With Associated Hematologic Neoplasm	Hepatomegaly, Splenomegaly, Lymphadenopathy	ORPHA:98849
Multiple Myeloma	Splenomegaly, Lymphadenopathy, Nephrotic syndrome, Nephropathy, Acute kidney injury	ORPHA:29073
Microphthalmia, Syndromic 6	Microphthalmia, Anophthalmia	OMIM:607932
Granulomatous Disease, Chronic, X-Linked	Hepatomegaly, Liver abscess, Splenomegaly, Lymphadenitis, Lymphadenopathy	OMIM:306400
Aregenerative Anemia	Bone marrow hypocellularity, Lymphadenopathy	ORPHA:101096
Branchiooculofacial Syndrome	Microphthalmia, Anophthalmia	OMIM:113620
Joint Contractures, Osteochondromas, And B-Cell Lymphoma	Hip contracture, Generalized lymphadenopathy	OMIM:620232
Pallister-Killian Syndrome	Small scrotum, Congenital hip dislocation, Renal cyst, Camptodactyly of 2nd-5th fingers, Short pa...	OMIM:601803
Marburg Hemorrhagic Fever	Pericarditis, Renal insufficiency, Orchitis, Jaundice, Lymphadenopathy, Conjunctival hyperemia, P...	ORPHA:99826
Common Variable Immunodeficiency	Splenomegaly, Abnormality of the liver, Lymphadenopathy	ORPHA:1572
Autoinflammation, Panniculitis, And Dermatosis Syndrome	Lymphadenopathy	OMIM:617099
Vascular Ehlers-Danlos Syndrome	Keratoconus, Congenital hip dislocation, Hypospadias, Abnormal heart valve morphology, Cryptorchi...	ORPHA:286
Craniorachischisis	Bifid sternum	ORPHA:63260
Leptospirosis	Hepatomegaly, Pericarditis, Cellular urinary casts, Jaundice, Hepatitis, Lymphadenopathy, Conjunc...	ORPHA:509
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia	Cervical lymphadenopathy, Lymphadenopathy	OMIM:617718
Immunodeficiency 82 With Systemic Inflammation	Follicular hyperplasia, Splenomegaly, Hepatitis, Lymphadenopathy, Anoperineal fistula	OMIM:619381
Loeys-Dietz Syndrome	Arachnodactyly, Camptodactyly of finger, Uterine rupture	ORPHA:60030
Immunodeficiency 55	Lymphadenopathy	OMIM:617827
Adenocarcinoma Of The Anal Canal	Neoplasm of the liver, Lymphadenopathy	ORPHA:424016
Systemic Lupus Erythematosus	Proteinuria, Lupus nephritis, Pyuria, Lymphadenopathy, Hematuria	ORPHA:536
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative	Absent peripheral lymph nodes in presence of infection	OMIM:600802
Craniofacial Microsomia 1	Microphthalmia, Anophthalmia	OMIM:164210
Microphthalmia, Syndromic 1	Microphthalmia, Anophthalmia	OMIM:309800
Chikungunya	Cervical lymphadenopathy, Lymphadenopathy	ORPHA:324625

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 Pgbd1

This gene doesn't have any significant Histopathology hits. Please click here to see the raw data.

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 Pgbd1.

No publications found that use IMPC mice or data for Pgbd1.

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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
Pgbd1^{tm1a(KOMP)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Pgbd1^{tm1e(KOMP)Wtsi}	Targeted, non-conditional allele	ES Cells
Pgbd1^{tm1(NCOM)Mfgc}	Reporter-tagged deletion allele (with selection cassette)	Targeting vectors, ES Cells
Pgbd1^em1(IMPC)Tcp	Intra-exon deletion	Mice, Tissue

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: Pgbd1 MGI:2441675

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

Gross Pathology and Tissue Collection

Eye Morphology

X-ray

X-ray

X-ray

X-ray

Gross Pathology and Tissue Collection

X-ray

Histopathology

X-ray

X-ray

X-ray

Histopathology

Eye Morphology

Immunophenotyping

Immunophenotyping

Human diseases caused by Pgbd1 mutations

Histopathology

IMPC related publications

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Access Data Release 20.1 Data