Gene Summary

Name:
piggyBac transposable element derived 1
Synonyms:
4921509E05Rik

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

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
abnormal skin morphology Pgbd1em1(IMPC)Tcp HOM Late adult 0.00
abnormal lymph node morphology Pgbd1em1(IMPC)Tcp HOM Late adult 0.00
abnormal uterus morphology Pgbd1em1(IMPC)Tcp HOM Late adult 0.00
abnormal kidney morphology Pgbd1em1(IMPC)Tcp HOM Late adult 0.00
abnormal heart morphology Pgbd1em1(IMPC)Tcp HOM Late adult 0.00
abnormal pancreas morphology Pgbd1em1(IMPC)Tcp HOM Late adult 0.00
abnormal sternum morphology Pgbd1em1(IMPC)Tcp HOM Late adult 0.00
small adrenal glands Pgbd1em1(IMPC)Tcp HOM Late adult 0.00
enlarged prostate gland Pgbd1em1(IMPC)Tcp HOM Late adult 0.00
small uterus Pgbd1em1(IMPC)Tcp HOM Late adult 0.00
small testis Pgbd1em1(IMPC)Tcp HOM Late adult 0.00
enlarged lymph nodes Pgbd1em1(IMPC)Tcp HOM Late adult 0.00
anophthalmia Pgbd1em1(IMPC)Tcp HOM Early adult 0.00
enlarged urinary bladder Pgbd1em1(IMPC)Tcp HOM Late adult 0.00

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Viewing: all phenotypes

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.

Histopathology

Images

14 Images

X-ray

XRay Images Whole Body Dorso Ventral

14 Images

X-ray

XRay Images Skull Lateral Orientation

14 Images

X-ray

XRay Images Skull Lateral Orientation

10 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

Gross Pathology and Tissue Collection

Images

10 Images

Eye Morphology

Images Ophthalmoscopy

11 Images

X-ray

XRay Images Whole Body Lateral Orientation

14 Images

Gross Pathology and Tissue Collection

Images

12 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

14 Images

Histopathology

Images

1 Images

Eye Morphology

Images Slit Lamp

1 Images

Immunophenotyping

Panel A FCS file(s)

4 Images

Immunophenotyping

Panel B FCS file(s)

4 Images

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.

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 Similarity of
phenotypes
Matching phenotypes Source
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Anophthalmia, Microphthalmia ORPHA:85275
Nanophthalmos 1
Bilateral microphthalmos OMIM:600165
Microphthalmia, Isolated 7
Microphthalmia OMIM:613704
Nanophthalmos 2
Microphthalmia OMIM:609549
Microphthalmia, Isolated 1
Anophthalmia, Microphthalmia OMIM:251600
Microphthalmia, Syndromic 16
Anophthalmia, Microphthalmia OMIM:611038
Microphthalmia/Coloboma 10
Anophthalmia, Microphthalmia OMIM:616428
Microphthalmia/Coloboma 5
Anophthalmia, Bilateral microphthalmos, Microphthalmia OMIM:611638
Hepatic Venoocclusive Disease With Immunodeficiency
Abnormality of the liver, Endocardial fibrosis, Absence of lymph node germinal center OMIM:235550
Microphthalmia, Isolated 8
True anophthalmia, Optic nerve hypoplasia, Anophthalmia, Microphthalmia OMIM:615113
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)
Infertility, Abnormal lymph node morphology OMIM:136580
Microphthalmia, Isolated 2
Microphthalmia OMIM:610093
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Decreased serum estradiol, Decreased circulating gonadotropin concentration, Decreased serum test... OMIM:614841
Squamous Cell Carcinoma Of The Esophagus
Clinodactyly of the 5th toe, Lymphadenopathy ORPHA:99977
Fryns Microphthalmia Syndrome
Anophthalmia, Microphthalmia OMIM:600776
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Decreased serum estradiol, Male hypogonadism, Abnormal vagina morphology, Gonadal dysgenesis, Abn... ORPHA:168563
Ovarian Dysgenesis 2
Streak ovary, Delayed puberty, Primary amenorrhea, Premature ovarian insufficiency, Hypoplasia of... OMIM:300510
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Decreased testicular size, Azoospermia, Absence of pubertal development, Cryptorchidism, Hypogona... OMIM:614837
Immunodeficiency 38 With Basal Ganglia Calcification
Axillary lymphadenopathy, Inguinal lymphadenopathy, Lymphadenopathy OMIM:616126
46,Xy Sex Reversal 3
Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Gonadal dysgenesis, Ambiguo... OMIM:612965
Ovarian Dysgenesis 6
Absence of pubertal development, Hypoplasia of the uterus, Hypergonadotropic hypogonadism, Primar... OMIM:618078
Lipoid Congenital Adrenal Hyperplasia
Congenital adrenal hyperplasia, Renal salt wasting, Adrenogenital syndrome, Hypospadias OMIM:201710
Satoyoshi Syndrome
Abnormal epiphysis morphology, Abnormality of the uterus, Abnormality of the ovary, Abnormal hip ... ORPHA:3130
Premature Ovarian Failure 7
Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Gonadal dysgenesis, Elevate... OMIM:612964
Anencephaly 2
Anophthalmia OMIM:619452
Diethylstilbestrol Syndrome
Hypoplasia of the uterus, Abnormality of the uterus, Vaginal neoplasm, Cryptorchidism, Testicular... ORPHA:1916
Ovarian Dysgenesis 9
Decreased serum estradiol, Elevated circulating luteinizing hormone level, Hypoplasia of the ovar... OMIM:619665
46,Xy Sex Reversal 11
Elevated circulating luteinizing hormone level, Vanishing testis, Decreased serum testosterone co... OMIM:273250
Ovarian Dysgenesis 7
Decreased serum estradiol, Elevated circulating luteinizing hormone level, Delayed puberty, Eleva... OMIM:618117
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency
Lymphadenopathy ORPHA:319600
Microphthalmia, Syndromic 12
Anophthalmia, Microphthalmia OMIM:615524
Testicular Regression Syndrome
Abnormal morphology of female internal genitalia, Decreased testicular size, Decreased fertility,... ORPHA:983
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Elevated circulating luteinizing hormone level, Absence of pubertal development, Decreased fertil... ORPHA:90793
Perrault Syndrome 6
Irregular menstruation, Streak ovary, Primary amenorrhea, Premature ovarian insufficiency, Hypopl... OMIM:617565
Leydig Cell Hypoplasia
Cryptorchidism, Male pseudohermaphroditism, Primary amenorrhea, Abnormal internal genitalia, Fema... ORPHA:755
Premature Ovarian Failure 6
Elevated circulating luteinizing hormone level, Female infertility, Streak ovary, Elevated circul... OMIM:612310
Premature Ovarian Failure 18
Irregular menstruation, Elevated circulating luteinizing hormone level, Hypoplasia of the ovary, ... OMIM:619203
Burkitt Lymphoma
Abnormal lymph node morphology, Abnormality of the ovary, Abnormality of the spleen, Abnormality ... ORPHA:543
Disordered Steroidogenesis Due To Cytochrome P450 Oxidoreductase Deficiency
Congenital adrenal hyperplasia, Increased circulating ACTH level, Ambiguous genitalia OMIM:613571
Normosmic Congenital Hypogonadotropic Hypogonadism
Male hypogonadism, Absence of secondary sex characteristics, Non-obstructive azoospermia, Decreas... ORPHA:432
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Unilateral renal agenesis, Azoospermia, Abnormal rib morphology, Hypoplasia of the uterus, Bicorn... OMIM:601076
Hypogonadism, Male
Micropenis, Male hypogonadism, Hypospadias, Testicular atrophy OMIM:241100
Hyperinsulinemic Hypoglycemia, Familial, 2
Hyperinsulinemic hypoglycemia, Nesidioblastosis, Pancreatic islet-cell hyperplasia OMIM:601820
Perrault Syndrome 3
Elevated circulating luteinizing hormone level, Streak ovary, Elevated circulating follicle stimu... OMIM:614129
Premature Ovarian Failure 13
Female infertility, Amenorrhea, Elevated circulating follicle stimulating hormone level, Oligomen... OMIM:617442
Ovarian Dysgenesis 5
Decreased serum estradiol, Elevated circulating luteinizing hormone level, Elevated circulating f... OMIM:617690
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Clitoral hypertrophy, Long penis, Precocious puberty in males, Congenital adrenal hyperplasia, De... OMIM:202010
Amed Syndrome, Digenic
Long thumb, Bone marrow hypocellularity, Hypoplasia of the uterus, Adrenal hypoplasia OMIM:619151
Mantle Cell Lymphoma
Splenomegaly, Lymphadenopathy ORPHA:52416
Testicular Agenesis
Absent external genitalia, Hypoplasia of the uterus, Vanishing testis, Decreased serum testostero... ORPHA:325124
Pulmonary Nodular Lymphoid Hyperplasia
Mediastinal lymphadenopathy, Follicular hyperplasia ORPHA:60026
Premature Ovarian Failure 3
Premature ovarian insufficiency, Hypoplasia of the uterus, Secondary amenorrhea OMIM:608996
Mayer-Rokitansky-Kuster-Hauser Syndrome
Hematocolpos, Multicystic kidney dysplasia, Abnormal female external genitalia morphology, Reduce... OMIM:277000
Reticuloendotheliosis, X-Linked
Jaundice, Hepatosplenomegaly, Lymphadenopathy OMIM:312500
Acromesomelic Dysplasia 3
Aplasia of the proximal phalanx of the 2nd finger, Elevated circulating luteinizing hormone level... OMIM:609441
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Premature adrenarche, Clitoral hypertrophy, Abnormal labia majora morphology, Cryptorchidism, Mal... ORPHA:90791
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency
Adrenal hyperplasia, Renal salt wasting, Elevated circulating 21-deoxycortisol concentration, Adr... OMIM:201910
Seckel Syndrome 7
Central hypothyroidism, Primary amenorrhea, Clinodactyly of the 5th finger, Hypoplasia of the ute... OMIM:614851
Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency
Adrenal hyperplasia, Male pseudohermaphroditism, Ambiguous genitalia, Primary amenorrhea, Adrenog... OMIM:202110
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency
Elevated circulating 17-hydroxyprogesterone concentration, Microphallus, Bifid scrotum, Adrenal i... OMIM:201810
Oculocerebrocutaneous Syndrome
Anophthalmia, Microphthalmia OMIM:164180
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Elevated circulating luteinizing hormone level, Decreased fertility, Cryptorchidism, Polycystic o... ORPHA:90796
Familial Papillary Or Follicular Thyroid Carcinoma
Follicular thyroid carcinoma, Abnormal lymph node morphology, Goiter, Chronic noninfectious lymph... ORPHA:319487
Matthew-Wood Syndrome
Renal hypoplasia, Annular pancreas, Abnormality of the uterus, Horseshoe kidney, Vesicoureteral r... ORPHA:2470
Dietary Iron Overload Disease
Hepatic bridging fibrosis, Hepatic fibrosis, Abnormal thyroid morphology, Increased circulating c... ORPHA:139507
Adenocarcinoma Of The Esophagus
Clinodactyly of the 5th toe, Lymphadenopathy ORPHA:99976
Perlman Syndrome
Abnormal pancreas morphology, Hyperinsulinemia, Cryptorchidism, Hepatomegaly, Hypoplasia of penis ORPHA:2849
Perrault Syndrome 4
Decreased serum estradiol, Hypoplasia of the ovary, Oligomenorrhea, Primary amenorrhea, Increased... OMIM:615300
Isolated Follicle Stimulating Hormone Deficiency
Decreased serum estradiol, Male hypogonadism, Decreased serum testosterone concentration, Decreas... ORPHA:52901
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia
Decreased serum estradiol, Hypogonadotropic hypogonadism, Decreased circulating luteinizing hormo... OMIM:614842
Microphthalmia, Syndromic 9
Hypoplastic left atrium, Renal hypoplasia, Multilobulated spleen, Horseshoe kidney, Tetralogy of ... OMIM:601186
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia
Abnormal lymph node morphology, Goiter, Chronic noninfectious lymphadenopathy, Papillary thyroid ... ORPHA:97290
Satoyoshi Syndrome
Genu valgum, Amenorrhea, Osteolytic defects of the phalanges of the hand, Brachydactyly, Short me... OMIM:600705
Complete Androgen Insensitivity Syndrome
Elevated circulating luteinizing hormone level, Abnormal morphology of female internal genitalia,... ORPHA:99429
Estrogen Resistance Syndrome
Delayed epiphyseal ossification, Absence of secondary sex characteristics, Absence of pubertal de... ORPHA:785
Partial Androgen Insensitivity Syndrome
Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Increased serum estradiol, ... ORPHA:90797
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Elevated circulating luteinizing hormone level, Hypoplastic scapulae, Clinodactyly, Abnormal fema... ORPHA:95699
Meckel Syndrome, Type 8
Anophthalmia, Microphthalmia OMIM:613885
46,Xx Sex Reversal 2
Small scrotum, Elevated circulating luteinizing hormone level, Bifid scrotum, Decreased serum tes... OMIM:278850
Immunodeficiency 104
Hepatomegaly, Splenomegaly, Lymphadenopathy OMIM:608971
46,Xy Sex Reversal 7
Sex reversal, Hypoplasia of the fallopian tube, Streak ovary, Abnormal epididymis morphology, Gon... OMIM:233420
Laryngeal Neuroendocrine Tumor
Increased serum serotonin, Neuroendocrine neoplasm, Chronic noninfectious lymphadenopathy, Adreno... ORPHA:100083
Kerion Celsi
Lymphadenopathy ORPHA:499
Roifman Syndrome
Epiphyseal dysplasia, Short toe, Hepatosplenomegaly, Hip contracture, Noncompaction cardiomyopath... ORPHA:353298
Immunodeficiency 75 With Lymphoproliferation
Hepatosplenomegaly, Follicular hyperplasia, Lymphadenopathy OMIM:619126
Renal Cysts And Diabetes Syndrome
Decreased numbers of nephrons, Pancreatic atrophy, Hypoplasia of the uterus, Hypospadias, Epididy... OMIM:137920
Estrogen Resistance
Breast aplasia, Increased serum estradiol, Hyperinsulinemia, Polycystic ovaries, Increased circul... OMIM:615363
Müllerian Aplasia And Hyperandrogenism
Abnormal vagina morphology, Abnormality of the ovary, Increased serum testosterone level, Brachyd... ORPHA:247768
Thrombocytopenia-Absent Radius Syndrome
Broad thumb, Finger syndactyly, Tibial torsion, Horseshoe kidney, Cervical ribs, Fibular aplasia,... ORPHA:3320
Spermatogenic Failure, X-Linked, 2
Spermatogenesis maturation arrest, Azoospermia, Testicular atrophy, Male infertility OMIM:309120
Hemochromatosis, Type 1
Impotence, Cardiomyopathy, Azoospermia, Splenomegaly, Cardiomegaly, Hypogonadotropic hypogonadism... OMIM:235200
46,Xx Ovotesticular Difference Of Sex Development
Small scrotum, Hypospadias, Bifid scrotum, Abnormal morphology of female internal genitalia, Abno... ORPHA:2138
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Abnormal lymph node morphology, Abnormality of the lymphatic system, Abnormal testis morphology, ... ORPHA:54251
Immunodeficiency With Hyper-Igm, Type 5
Epididymitis, Lymphadenopathy OMIM:608106
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Anophthalmia ORPHA:411986
Maternal Uniparental Disomy Of Chromosome 6
Clitoral hypertrophy, Slender long bone, Congenital adrenal hyperplasia, Increased serum testoste... ORPHA:96181
Desmoplastic Small Round Cell Tumor
Lymphadenopathy, Testicular neoplasm, Abnormal peritoneum morphology, Hepatomegaly, Ovarian neopl... ORPHA:83469
46,Xy Sex Reversal 4
Gonadal dysgenesis, Ureteropelvic junction obstruction, Hydronephrosis, Hypoplastic labia majora,... OMIM:154230
Renal-Hepatic-Pancreatic Dysplasia 1
Aortic valve stenosis, Cholestasis, Cirrhosis, Atrial septal defect, Hepatomegaly, Polycystic kid... OMIM:208540
Renal And Mullerian Duct Hypoplasia
Renal hypoplasia, Horseshoe kidney, Aplasia of the uterus, Anteriorly displaced urethral meatus, ... OMIM:266810
Kimura Disease
Abnormal salivary gland morphology, Follicular hyperplasia, Lymphadenopathy ORPHA:482
Cardiac-Urogenital Syndrome
Biventricular hypertrophy, Cryptorchidism, Ventricular septal defect, Atrial septal defect, Dextr... OMIM:618280
Oculotrichoanal Syndrome
Anophthalmia, Microphthalmia ORPHA:2717
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Hyperactive renin-angiotensin system, Abnormal female external genitalia morphology, Increased ci... ORPHA:90790
Meckel Syndrome 12
Renal hypoplasia, Vaginal atresia, Hypoplasia of the uterus, Rocker bottom foot, Ureteral hypoplasia OMIM:616258
Thymic Neuroendocrine Tumor
Calcium nephrolithiasis, Pituitary adenoma, Increased circulating cortisol level, Pituitary prola... ORPHA:97289
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Midshaft hypospadias, Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Abnor... ORPHA:289548
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Small scrotum, Unilateral renal agenesis, Decreased serum testosterone concentration, Decreased t... OMIM:308700
Kallmann Syndrome With Spastic Paraplegia
Unilateral renal agenesis, Hypothalamic gonadotropin-releasing hormone deficiency, Cryptorchidism... OMIM:308750
Histiocytosis-Lymphadenopathy Plus Syndrome
Clinodactyly, Hepatosplenomegaly, Joint contracture of the 5th finger, Mitral valve prolapse, Ven... OMIM:602782
Kennedy Disease
Testicular atrophy, Decreased fertility, Type II diabetes mellitus, Erectile dysfunction ORPHA:481
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Midshaft hypospadias, Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Abnor... ORPHA:168558
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly
Preaxial polydactyly, Acetabular spurs, Femoral bowing, Short ribs, Postaxial polydactyly, Ventri... OMIM:615503
Mullerian Aplasia And Hyperandrogenism
Unilateral renal agenesis, Aplasia of the fallopian tube, Aplasia of the vagina, Increased circul... OMIM:158330
Autoinflammation With Episodic Fever And Lymphadenopathy
Hepatomegaly, Recurrent tonsillitis, Splenomegaly, Lymphadenopathy OMIM:618852
Hyperaldosteronism, Familial, Type I
Hyperaldosteronism, Adrenogenital syndrome, Adrenal hyperplasia, Decreased circulating renin level OMIM:103900
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Genital ulcers, Lymph node hypoplasia, Splenomegaly, Aplasia of the thymus, Generalized lymphaden... OMIM:602450
Myoectodermal Gonadal Dysgenesis Syndrome
Accessory spleen, Unilateral renal agenesis, Elevated circulating luteinizing hormone level, Bifi... OMIM:618419
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Chronic kidney disease, Hypoplastic iliac wing, Foot polydactyly, Jaundice, Cone-shaped epiphyses... OMIM:208500
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Hepatomegaly, Splenomegaly, Lymphadenopathy ORPHA:86893
Spinocerebellar Ataxia 32
Testicular atrophy, Infertility, Azoospermia OMIM:613909
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Splenomegaly, Hepatitis, Lymphadenopathy ORPHA:444463
Anophthalmia Plus Syndrome
Anophthalmia ORPHA:1104
Spinocerebellar Ataxia Type 32
Testicular atrophy, Azoospermia, Male infertility ORPHA:276183
Granulomatous Slack Skin
Acute kidney injury, Nephrocalcinosis, Abnormal lymph node morphology ORPHA:33111
Mayer-Rokitansky-Küster-Hauser Syndrome
Ectopic ovary, Unilateral renal agenesis, Horseshoe kidney, Aplasia of the ovary, Endometriosis, ... ORPHA:3109
Autoimmune Polyendocrinopathy Type 1
Abnormal circulating calcium-phosphate regulating hormone concentration, Increased circulating co... ORPHA:3453
Meacham Syndrome
Aortic valve stenosis, Hypoplastic left heart, Abnormal vagina morphology, Hydrometrocolpos, Hors... ORPHA:3097
Mu-Heavy Chain Disease
Nephropathy, Bence Jones Proteinuria, Splenomegaly, Lymphadenopathy, Hepatomegaly ORPHA:100024
46,Xy Partial Gonadal Dysgenesis
Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Abnormal vagina morphology,... ORPHA:251510
Follicular Lymphoma
Mediastinal lymphadenopathy, Splenomegaly, Abnormal peritoneum morphology, Lymphadenopathy ORPHA:545
Roifman Syndrome
Short toe, Irregular femoral epiphysis, Splenomegaly, Hip contracture, Ventricular septal defect,... OMIM:616651
Microphthalmia, Syndromic 5
Optic nerve hypoplasia, Anophthalmia, Microphthalmia OMIM:610125
Microcephaly 20, Primary, Autosomal Recessive
Vaginal atresia, Ureteral agenesis, Hypoplasia of the uterus, Renal hypoplasia OMIM:617914
Hereditary Amyloidosis With Primary Renal Involvement
Nephropathy, Nephrotic syndrome, Abnormal urinary electrolyte concentration, Abnormal lymph node ... ORPHA:85450
Symptomatic Form Of Hfe-Related Hemochromatosis
Cardiomegaly, Cardiomyopathy, Decreased serum testosterone concentration, Decreased libido, Porta... ORPHA:465508
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Ventricular hypertrophy, Hyperaldosteronism, Adrenal hyperplasia, Nephrolithiasis, Ventricular se... ORPHA:369929
Trisomy 13
Aplasia/Hypoplasia of the iris, Anophthalmia, Microphthalmia ORPHA:3378
Pigmented Nodular Adrenocortical Disease, Primary, 3
Increased circulating cortisol level, Adrenal hyperplasia OMIM:614190
Generalized Glucocorticoid Resistance Syndrome
Precocious puberty, Abnormal circulating testosterone concentration, Increased circulating cortis... ORPHA:786
Hydrolethalus Syndrome 1
Accessory spleen, Abnormal vagina morphology, Preaxial hand polydactyly, Upper limb undergrowth, ... OMIM:236680
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs
Adrenal gland agenesis, Ventricular septal defect, Ovotestis, Hypospadias, Sex reversal OMIM:611812
Hydatidiform Mole
Menometrorrhagia, Hyperthyroidism, Enlarged uterus ORPHA:99927
Mast Cell Sarcoma
Hepatomegaly, Mediastinal lymphadenopathy, Splenomegaly, Lymphadenopathy ORPHA:66661
Immunodeficiency 54
Adrenal insufficiency, Splenomegaly, Adrenocorticotropic hormone excess, Lymphadenopathy, Hepatom... OMIM:609981
Familial Hyperaldosteronism Type Iii
Adrenal hyperplasia, Abnormal circulating renin, Left ventricular hypertrophy, Hypercalciuria, Gl... ORPHA:251274
Familial Hyperaldosteronism Type I
Abnormal circulating renin, Dexamethasone-suppressible primary hyperaldosteronism, Secretory adre... ORPHA:403
Familial Hyperaldosteronism Type Ii
Abnormal circulating renin, Secretory adrenocortical adenoma, Adrenal hyperplasia, Glucocortocoid... ORPHA:404
Congenital Alveolar Capillary Dysplasia
Aortic valve stenosis, Hypoplastic left heart, Annular pancreas, Tetralogy of Fallot, Atrioventri... ORPHA:210122
Campomelia, Cumming Type
Polysplenia, Bowing of the long bones, Pancreatic cysts, Polycystic kidney dysplasia, Polycystic ... OMIM:211890
Woodhouse-Sakati Syndrome
Decreased serum estradiol, Insulin-resistant diabetes mellitus, Hypogonadism, Decreased testicula... ORPHA:3464
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome
Nephropathy, Abnormal vagina morphology, Abnormality of the uterus, Streak ovary, Renal insuffici... OMIM:194072
Woodhouse-Sakati Syndrome
Elevated circulating thyroid-stimulating hormone concentration, Decreased serum testosterone conc... OMIM:241080
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Unilateral renal agenesis, Parathyroid hypoplasia, Uterus didelphys, Abnormal heart morphology, S... ORPHA:2237
Hydrolethalus
Anophthalmia, Microphthalmia ORPHA:2189
Solitary Median Maxillary Central Incisor
Anophthalmia, Microphthalmia OMIM:147250
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome
Chronic kidney disease, Nephrocalcinosis, Uterus didelphys, Septate vagina, Distal renal tubular ... OMIM:146255
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Hepatosplenomegaly, Lymphadenopathy, Clubbing of fingers OMIM:618982
Autoimmune Lymphoproliferative Syndrome, Type Iii
Hepatosplenomegaly, Stage 5 chronic kidney disease, Splenomegaly, Follicular hyperplasia, General... OMIM:615559
Microphthalmia With Brain And Digit Anomalies
Anophthalmia, Microphthalmia ORPHA:139471
Cerebrooculonasal Syndrome
Anophthalmia ORPHA:66625
Acth-Independent Macronodular Adrenal Hyperplasia
Increased circulating cortisol level, Decreased circulating ACTH concentration, Macronodular adre... OMIM:219080
Wolfram Syndrome 1
Hydroureter, Limited mobility of proximal interphalangeal joint, Cardiomyopathy, Hydronephrosis, ... OMIM:222300
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease
Congenital hip dislocation, Abnormal hallux morphology, Exocrine pancreatic insufficiency, Ulnar ... ORPHA:456312
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Testicular atrophy, Clinodactyly of the 5th finger, Toe syndactyly, Syndactyly OMIM:601163
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Anophthalmia, Microphthalmia ORPHA:77298
Congenital Toxoplasmosis
Hepatomegaly, Jaundice, Cardiomegaly, Lymphadenopathy ORPHA:858
Popliteal Pterygium Syndrome
Small scrotum, Bifid scrotum, Cutaneous finger syndactyly, Cryptorchidism, Hypoplastic labia majo... OMIM:119500
Alpha-Heavy Chain Disease
Hepatomegaly, Splenomegaly, Lymphadenopathy ORPHA:100025
Dextrocardia
Congenital hip dislocation, Abnormality of abdominal situs, Pancreatic hypoplasia, Abnormal heart... ORPHA:1666
Igg4-Related Submandibular Gland Disease
Enlarged lacrimal glands, Abnormal pancreas morphology, Abnormality of the submandibular glands, ... ORPHA:449432
Tetraamelia Syndrome 1
Absent external genitalia, Hypoplastic pelvis, Adrenal gland agenesis, Urethral atresia, Vaginal ... OMIM:273395
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hepatomegaly, Jaundice, Splenomegaly, Lymphadenopathy OMIM:603552
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Premature adrenarche, Clitoral hypertrophy, Decreased fertility, Renal salt wasting, Abnormal cir... ORPHA:90794
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Testicular atrophy, Decreased fertility OMIM:313200
Lig4 Syndrome
Type II diabetes mellitus, Cryptorchidism, Hypothyroidism, Lymphadenopathy, Hepatomegaly, Clinoda... ORPHA:99812
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism
Short distal phalanx of finger, Clinodactyly, Decreased response to growth hormone stimulation te... OMIM:615866
Hyperaldosteronism, Familial, Type Iii
Hyperaldosteronism, Adrenal hyperplasia, Decreased circulating renin level, Hypercalciuria, Polyuria OMIM:613677
Thrombocytopenia-Absent Radius Syndrome
Short forearm, Broad thumb, Finger syndactyly, Carpal synostosis, Hepatosplenomegaly, Fibular apl... OMIM:274000
Lymphoproliferative Syndrome 3
Hepatosplenomegaly, Lymphadenopathy OMIM:618261
Pigmented Nodular Adrenocortical Disease, Primary, 4
Primary hypercortisolism, Diabetes mellitus, Increased circulating cortisol level, Adrenal hyperp... OMIM:615830
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Small scrotum, Clitoral hypertrophy, Decreased circulating dehydroepiandrosterone concentration, ... OMIM:201750
Lumbar Syndrome
Bifid scrotum, Vesicoureteral reflux, Cryptorchidism, Hypoplastic labia majora, Ambiguous genital... ORPHA:83628
Manitoba Oculotrichoanal Syndrome
Anophthalmia, Microphthalmia OMIM:248450
Immunodeficiency 64 With Lymphoproliferation
Cervical lymphadenopathy, Hepatosplenomegaly, Splenomegaly, Lymphadenopathy, Mediastinal lymphade... OMIM:618534
Thyroid Lymphoma
Goiter, Hashimoto thyroiditis, Hypothyroidism, Lymphadenopathy, Hyperthyroidism ORPHA:97285
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Fluctuating splenomegaly, Lymphadenopathy OMIM:619220
Vacterl/Vater Association
Multicystic kidney dysplasia, Aplasia/Hypoplasia of the radius, Abnormality of the urethra, Finge... ORPHA:887
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Splenomegaly, Lymphadenopathy OMIM:615513
Lymphatic Filariasis
Urethral obstruction, Lymphadenitis, Abnormal scrotum morphology, Orchitis, Hematuria, Proteinuri... ORPHA:2035
Medullary Thyroid Carcinoma
Elevated circulating calcitonin concentration, Pheochromocytoma, Medullary thyroid carcinoma, Abn... ORPHA:1332
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Splenomegaly, Glomerulonephritis, Lymphadenopathy, Hepatomegaly, Thyroiditis OMIM:619375
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Hepatic fibrosis, Polysyndactyly of hallux, Postaxial polysyndactyly of foot, Preaxial hand polyd... OMIM:263520
Acquired Hypertrichosis Lanuginosa
Ovarian neoplasm, Lymphadenopathy ORPHA:2221
Kaposiform Lymphangiomatosis
Fractures of the long bones, Hepatosplenomegaly, Abnormal femur morphology, Metrorrhagia, Splenom... ORPHA:464329
Deafness, Autosomal Dominant 34, With Or Without Inflammation
Lymphadenopathy OMIM:617772
Poems Syndrome
Visceromegaly, Increased circulating prolactin concentration, Hypogonadism, Metaphyseal sclerosis... ORPHA:2905
Meckel Syndrome
Accessory spleen, Asplenia, Multicystic kidney dysplasia, Postaxial foot polydactyly, Preaxial ha... ORPHA:564
Microphthalmia With Limb Anomalies
Anophthalmia, Microphthalmia OMIM:206920
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Mediastinal lymphadenopathy, Splenomegaly, Lymphadenopathy OMIM:300853
Aarskog-Scott Syndrome
Short 5th finger, Elevated circulating luteinizing hormone level, Clinodactyly, Radial deviation ... OMIM:305400
Linear Skin Defects With Multiple Congenital Anomalies 1
Clitoral hypertrophy, Histiocytoid cardiomyopathy, Ventricular septal defect, Ovotestis, Chordee,... OMIM:309801
Immunodeficiency, Common Variable, 2
Hepatomegaly, Splenomegaly, Follicular hyperplasia, Lymphadenopathy OMIM:240500
Pfapa Syndrome
Hepatomegaly, Splenomegaly, Lymphadenopathy ORPHA:42642
Feingold Syndrome
Deviation of the 2nd finger, Toe syndactyly, Annular pancreas, Abnormality of the spleen, Hallux ... ORPHA:1305
Martinez-Frias Syndrome
Annular pancreas, Pancreatic hypoplasia, Hypoplasia of the gallbladder, Extrahepatic biliary duct... OMIM:601346
Immunodeficiency 27A
Hepatosplenomegaly, Splenomegaly, Hypoplasia of the femoral head, Lymphadenopathy, Enlarged mesen... OMIM:209950
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Multicystic kidney dysplasia, Acute kidney injury, Absent vas deferens, Abnormality of endocrine ... ORPHA:93111
Meckel Syndrome, Type 7
Aortic valve stenosis, Multicystic kidney dysplasia, Biliary cirrhosis, Postaxial foot polydactyl... OMIM:267010
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Irregular menstruation, Pituitary adenoma, Increased circulating cortisol level, Neuroendocrine n... ORPHA:189427
Immunodeficiency 76
Splenomegaly, Lymphadenopathy OMIM:619164
Cockayne Syndrome Type 2
Anophthalmia ORPHA:90322
Acth-Independent Macronodular Adrenal Hyperplasia 2
Increased urinary cortisol level, Decreased circulating ACTH concentration, Macronodular adrenal ... OMIM:615954
Familial Pancreatic Carcinoma
Peritoneal abscess, Pancreatic adenocarcinoma, Exocrine pancreatic insufficiency, Hepatosplenomeg... ORPHA:1333
Fryns Syndrome
Thin ribs, Short distal phalanx of finger, Ectopic pancreatic tissue, Rocker bottom foot, Promine... OMIM:229850
Dyskeratosis Congenita, Autosomal Recessive 2
Testicular atrophy, Bone marrow hypocellularity, Cirrhosis OMIM:613987
Fanconi Anemia, Complementation Group D2
Bone marrow hypocellularity, Annular pancreas, Absent thumb, Short thumb, Preaxial hand polydacty... OMIM:227646
Walker-Warburg Syndrome
Anophthalmia, Microphthalmia ORPHA:899
Oeis Complex
Congenital hip dislocation, Hydroureter, Ambiguous genitalia, female, 11 pairs of ribs, Absent sc... OMIM:258040
Blepharophimosis, Ptosis, And Epicanthus Inversus
Irregular menstruation, Female infertility, Amenorrhea, Increased circulating gonadotropin level,... OMIM:110100
Trisomy 1Q
Anophthalmia ORPHA:261344
Pleural Mesothelioma
Hepatomegaly, Lymphadenopathy ORPHA:50251
Classic Mycosis Fungoides
Hepatomegaly, Splenomegaly, Lymphadenopathy ORPHA:2584
Primary Unilateral Adrenal Hyperplasia
Glucocortocoid-insensitive primary hyperaldosteronism, Increased urinary potassium, Adrenal hyper... ORPHA:231580
Omenn Syndrome
Short toe, Splenomegaly, Hypothyroidism, Lymphadenopathy, Hepatomegaly, Nephrotic syndrome, Abnor... ORPHA:39041
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Thin ribs, Absent external genitalia, Aplasia of the vagina, Short ribs, Hydronephrosis, Aplasia ... OMIM:271520
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hepatosplenomegaly, Splenomegaly, Lymphadenopathy OMIM:613101
Trisomy 8P
Clinodactyly of the 2nd finger, Overlapping toe, Cryptorchidism, Dysplastic aortic valve, Annular... ORPHA:264450
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1
Hepatic fibrosis, Exocrine pancreatic insufficiency, Ulnar deviation of the 2nd finger, Hepatic s... OMIM:616263
Meckel Syndrome 14
Hepatic fibrosis, Postaxial foot polydactyly, Bowing of the long bones, Aplasia of the uterus, Po... OMIM:619879
Leukocyte Adhesion Deficiency, Type Iii
Hepatomegaly, Hepatosplenomegaly, Splenomegaly, Abnormal lymph node morphology OMIM:612840
Schnitzler Syndrome
Hepatomegaly, Splenomegaly, Lymphadenopathy ORPHA:37748
Phocomelia, Schinzel Type
Finger aplasia, Radial bowing, Ectrodactyly, Aplasia/Hypoplasia involving the pelvis, Abnormal ti... ORPHA:2879
Pagod Syndrome
Hypoplastic left heart, Multicystic kidney dysplasia, Abnormality of the uterus, Abnormal morphol... ORPHA:991
Activated Pi3K-Delta Syndrome
Hepatomegaly, Recurrent tonsillitis, Splenomegaly, Lymphadenopathy ORPHA:397596
Anaplastic Thyroid Carcinoma
Nodular goiter, Anaplastic thyroid carcinoma, Lymphadenopathy, Goiter ORPHA:142
Caspase 8 Deficiency
Splenomegaly, Lymphadenopathy OMIM:607271
Nephronophthisis 13
Renal hypoplasia, Nephronophthisis, Stage 5 chronic kidney disease, Intrahepatic bile duct dilata... OMIM:614377
Immunodeficiency With Hyper-Igm, Type 2
Lymphadenopathy OMIM:605258
Classic Hodgkin Lymphoma
Hepatomegaly, Bone marrow hypocellularity, Splenomegaly, Lymphadenopathy ORPHA:391
Myotonic Dystrophy 1
Testicular atrophy, Cholelithiasis, Hypogonadism OMIM:160900
Igg4-Related Thyroid Disease
Graves disease, Retroperitoneal fibrosis, Euthyroid goiter, Goiter, Sialadenitis, Sclerosing chol... ORPHA:64744
Immunodeficiency 52
Splenomegaly, Lymphadenopathy OMIM:617514
Legionnaires Disease
Bone marrow hypocellularity, Hepatitis, Renal insufficiency, Splenomegaly, Hematuria, Proteinuria... ORPHA:549
Cold Agglutinin Disease
Hepatomegaly, Lymphadenopathy, Splenomegaly, Abnormal urinary color ORPHA:56425
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Decreased serum estradiol, Elevated circulating luteinizing hormone level, Decreased circulating ... ORPHA:572333
Heme Oxygenase 1 Deficiency
Nephritis, Cervical lymphadenopathy, Hematuria, Proteinuria, Lymphadenopathy, Hepatomegaly, Asplenia OMIM:614034
Beckwith-Wiedemann Syndrome
Nephropathy, Cryptorchidism, Hepatoblastoma, Hepatomegaly, Visceromegaly, Abnormal pancreas morph... ORPHA:116
Chromosome 17Q12 Deletion Syndrome
Unilateral renal agenesis, Multicystic kidney dysplasia, Renal hypoplasia, Upper limb undergrowth... OMIM:614527
Rosaï-Dorfman Disease
Lymphadenopathy ORPHA:158014
1P36 Deletion Syndrome
Abnormal female external genitalia morphology, Abnormality of the spleen, Cryptorchidism, Hepatic... ORPHA:1606
H Syndrome
Hypogonadism, Decreased testicular size, Azoospermia, Hepatosplenomegaly, Amenorrhea, Camptodacty... ORPHA:168569
Immunodeficiency With Hyper-Igm, Type 3
Absence of lymph node germinal center OMIM:606843
Pseudomyxoma Peritonei
Lymphadenopathy, Abnormal peritoneum morphology ORPHA:26790
Acrocephalopolydactylous Dysplasia
Hepatic fibrosis, Polysplenia, Pancreatic fibrosis, Postaxial hand polydactyly, Hepatomegaly, Enl... OMIM:200995
Fish-Eye Disease
Hepatomegaly, Splenomegaly, Lymphadenopathy ORPHA:79292
Jacobsen Syndrome
Annular pancreas, Cryptorchidism, Ventricular septal defect, Missing ribs, Labial hypoplasia, Bra... OMIM:147791
Atelosteogenesis Type I
Multiple renal cysts, Brachydactyly, Short long bone, Abnormal fibula morphology, Abnormal ossifi... ORPHA:1190
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hepatic fibrosis, Periportal fibrosis, Multiple small medullary renal cysts, Renal insufficiency,... OMIM:263200
Campomelia, Cumming Type
Multicystic kidney dysplasia, Clubbing of toes, Bowing of the long bones, Multiple renal cysts, B... ORPHA:1318
Glycogen Storage Disease Ib
Focal segmental glomerulosclerosis, Decreased glomerular filtration rate, Splenomegaly, Nephrolit... OMIM:232220
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Hepatomegaly, Splenomegaly, Lymphadenopathy OMIM:618495
Indolent Systemic Mastocytosis
Hepatomegaly, Splenomegaly, Lymphadenopathy ORPHA:98848
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Anophthalmia, Microphthalmia OMIM:615877
Immunodeficiency 109 With Lymphoproliferation
Generalized lymphadenopathy, Splenomegaly OMIM:620282
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Hypoplastic left heart, Parachute mitral valve, Annular pancreas, Hydroureter, Tetralogy of Fallo... OMIM:265380
Familial Cold Autoinflammatory Syndrome 2
Splenomegaly, Lymphadenopathy OMIM:611762
Systemic-Onset Juvenile Idiopathic Arthritis
Hepatomegaly, Splenomegaly, Pericarditis, Lymphadenopathy ORPHA:85414
Schinzel-Giedion Midface Retraction Syndrome
Small scrotum, Aplasia/Hypoplasia of the pubic bone, Hypoplastic labia majora, Hepatoblastoma, At... OMIM:269150
Immunodeficiency, Common Variable, 1
Hepatomegaly, Splenomegaly, Lymphadenopathy OMIM:607594
Immunodeficiency 32A
Lymphadenitis, Lymphadenopathy OMIM:614893
Pancreatoblastoma
Pancreatic calcification, Jaundice, Abnormal lymph node morphology ORPHA:677
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Small scrotum, Radial bowing, Aplasia/Hypoplasia of the pubic bone, Fibular aplasia, Cryptorchidi... OMIM:276820
Rhabdoid Tumor
Hematuria, Neoplasm of the liver, Lymphadenopathy ORPHA:69077
Jacobsen Syndrome
Toe clinodactyly, Bone marrow hypocellularity, Multicystic kidney dysplasia, Toe syndactyly, Annu... ORPHA:2308
Cushing Syndrome Due To Ectopic Acth Secretion
Increased circulating cortisol level, Abnormal lymph node morphology, Increased urinary cortisol ... ORPHA:99889
Hypocomplementemic Urticarial Vasculitis
Abnormal heart valve morphology, Renal insufficiency, Splenomegaly, Hematuria, Proteinuria, Lymph... ORPHA:36412
Immunodeficiency 91 And Hyperinflammation
Hepatosplenomegaly, Renal insufficiency, Lymphadenopathy, Membranoproliferative glomerulonephriti... OMIM:619644
Carcinoid Syndrome
Increased serum serotonin, Hepatic necrosis, Chronic noninfectious lymphadenopathy, Atypical pulm... ORPHA:100093
Bohring-Opitz Syndrome
Short toe, Supernumerary nipple, Overlapping toe, Vesicoureteral reflux, Ventricular septal defec... OMIM:605039
Exstrophy-Epispadias Complex
Penoscrotal transposition, Urinary incontinence, Renal hypoplasia, Male sexual dysfunction, Bifid... ORPHA:322
Papa Syndrome
Proteinuria, Type I diabetes mellitus, Lymphadenopathy ORPHA:69126
Immunodeficiency 105
Hepatosplenomegaly, Absence of lymph node germinal center OMIM:619924
Bone Marrow Failure Syndrome 3
Congenital hip dislocation, Bone marrow hypocellularity, Exocrine pancreatic insufficiency, Crypt... OMIM:617052
American Trypanosomiasis
Cardiomyopathy, Splenomegaly, Lymphadenopathy, Myocarditis, Hepatomegaly ORPHA:3386
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies
Hepatosplenomegaly, Hypothyroidism, Lymphadenopathy OMIM:619750
17Q12 Microdeletion Syndrome
Multicystic kidney dysplasia, Ureterocele, Renal insufficiency, Cryptorchidism, Shawl scrotum, Di... ORPHA:261265
Bent Bone Dysplasia Syndrome 2
Thin ribs, Hypoplastic acetabulae, Short 1st metacarpal, Short tibia, Hypoplastic iliac wing, Fem... OMIM:620076
Townes-Brocks Syndrome 1
Multicystic kidney dysplasia, Broad thumb, Cryptorchidism, Pseudoepiphyses of second metacarpal, ... OMIM:107480
Tularemia
Cervical lymphadenopathy, Abnormal nasopharyngeal adenoid morphology, Mediastinal lymphadenopathy... ORPHA:3392
Peters-Plus Syndrome
Square pelvis bone, Cryptorchidism, Ventricular septal defect, Hypoplastic labia majora, Atrial s... OMIM:261540
Autosomal Dominant Polycystic Kidney Disease
Chronic kidney disease, Abnormal urinary electrolyte concentration, Pituitary growth hormone cell... ORPHA:730
Griscelli Syndrome Type 2
Hepatomegaly, Jaundice, Splenomegaly, Lymphadenopathy ORPHA:79477
Duodenal Atresia
Annular pancreas, Abnormality of the pancreas ORPHA:1203
Immunodeficiency 103, Susceptibility To Fungal Infections
Lymphadenopathy OMIM:212050
Ras-Associated Autoimmune Leukoproliferative Disorder
Hepatomegaly, Splenomegaly, Follicular hyperplasia OMIM:614470
Peters Plus Syndrome
Hypoplastic left heart, Multicystic kidney dysplasia, Toe syndactyly, Short toe, Congenital hypot... ORPHA:709
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Recurrent tonsillitis, Lymphadenitis, Hepatosplenomegaly, Splenomegaly, Lymphadenopathy, Nephroti... OMIM:618935
Cockayne Syndrome Type 1
Anophthalmia ORPHA:90321
Lymphoproliferative Syndrome 2
Hepatomegaly, Hepatosplenomegaly, Splenomegaly, Lymphadenopathy OMIM:615122
Spondyloepimetaphyseal Dysplasia, Krakow Type
Annular pancreas, Irregular epiphyses, Delayed pubic bone ossification, 2-3 toe syndactyly, Decre... OMIM:618162
Autoimmune Lymphoproliferative Syndrome, Type Iia
Nephritis, Chronic noninfectious lymphadenopathy, Splenomegaly, Follicular hyperplasia, Lymphaden... OMIM:603909
Alveolar Echinococcosis
Biliary cirrhosis, Abnormal mesentery morphology, Abnormal pericardium morphology, Abnormal pelvi... ORPHA:284
Distal Deletion 12Q
Congenital hypertrophy of left ventricle, Annular pancreas, Pituitary adenoma, Maturity-onset dia... ORPHA:96149
Middle Ear Neuroendocrine Tumor
Neuroendocrine neoplasm, Carcinoid tumor, Chronic noninfectious lymphadenopathy ORPHA:100084
Permanent Neonatal Diabetes Mellitus-Pancreatic And Cerebellar Agenesis Syndrome
Neonatal insulin-dependent diabetes mellitus, Aplasia/Hypoplasia of the pancreas ORPHA:65288
Castleman Disease
Restrictive cardiomyopathy, Ureteral obstruction, Renal insufficiency, Follicular hyperplasia, He... ORPHA:160
Scrub Typhus
Myocarditis, Renal insufficiency, Splenomegaly, Lymphadenopathy ORPHA:83317
Senior-Loken Syndrome 8
Nephronophthisis, Stage 5 chronic kidney disease, Intrahepatic bile duct dilatation, Hepatic cyst... OMIM:616307
Tropical Pancreatitis
Insulin-dependent but ketosis-resistant diabetes, Pancreatic adenocarcinoma, Chronic calcifying p... ORPHA:103918
Shwachman-Diamond Syndrome 2
Exocrine pancreatic insufficiency, Hyperechogenic pancreas, Anterior rib cupping, Metaphyseal wid... OMIM:617941
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Follicular hyperplasia, Lymphadenopathy OMIM:619846
Microphthalmia, Syndromic 3
Optic nerve aplasia, Optic nerve hypoplasia, Anophthalmia, Microphthalmia OMIM:206900
Immunodeficiency 7
Hepatomegaly, Splenomegaly, Lymphadenopathy OMIM:615387
Igg4-Related Kidney Disease
Chronic kidney disease, Lymphadenitis, Urethritis, Abnormal mesentery morphology, Hematuria, Pros... ORPHA:449395
Intellectual Developmental Disorder, X-Linked 112
Enuresis nocturna, Hypospadias, Enuresis, Horseshoe kidney, Abnormal heart morphology, Pyelonephr... OMIM:301111
Pearson Syndrome
Hepatic steatosis, Hepatomegaly, Hypoparathyroidism, Hypoplastic spleen, Decreased response to gr... ORPHA:699
Coccidioidomycosis
Abnormality of the male genitalia, Abnormality of the spleen, Abnormality of the liver, Broad rib... ORPHA:228123
Townes-Brocks Syndrome 2
Crossed fused renal ectopia, Vesicoureteral reflux, Bifid uterus, Rectovaginal fistula, Hypospadias OMIM:617466
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Absent tonsils, Absence of lymph node germinal center ORPHA:277
Lesch-Nyhan Syndrome
Nephrocalcinosis, Nephrolithiasis, Hyperuricosuria, Testicular atrophy, Hip dislocation OMIM:300322
Vacterl With Hydrocephalus
Anophthalmia, Microphthalmia ORPHA:3412
Nephroblastoma
Hematuria, Neoplasm of the liver, Lymphadenopathy ORPHA:654
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome
Aniridia, Anophthalmia ORPHA:1101
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Hepatomegaly, Jaundice, Absent tonsils, Lymph node hypoplasia ORPHA:276
Bronchial Neuroendocrine Tumor
Increased serum serotonin, Abnormal pulmonary valve cusp morphology, Increased circulating cortis... ORPHA:97287
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Splenomegaly, Lymphadenopathy OMIM:150550
Immunodeficiency With Hyper-Igm, Type 4
Absence of lymph node germinal center OMIM:608184
Agammaglobulinemia, X-Linked
Cor pulmonale, Lymph node hypoplasia, Prostatitis, Enteroviral hepatitis, Epididymitis, Hepatocel... OMIM:300755
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Anophthalmia, Microphthalmia ORPHA:2250
Combined Immunodeficiency Due To Zap70 Deficiency
Lymphadenitis, Abnormal lymph node morphology, Hepatosplenomegaly, Lymphadenopathy, Nephrotic syn... ORPHA:911
Griscelli Syndrome
Bone marrow hypocellularity, Hepatitis, Splenomegaly, Lymphadenopathy, Hepatomegaly, Jaundice ORPHA:381
Leishmaniasis
Hepatomegaly, Splenomegaly, Lymphadenopathy ORPHA:507
Deafness-Lymphedema-Leukemia Syndrome
Hepatomegaly, Bone marrow hypocellularity, Splenomegaly, Lymphadenopathy ORPHA:3226
Bone Marrow Failure Syndrome 5
Testicular atrophy, Hypogonadism OMIM:618165
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Hepatic fibrosis, Pancreatic hypoplasia, Elevated circulating thyroid-stimulating hormone concent... OMIM:610199
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Cervical lymphadenopathy OMIM:618987
Pancreatitis, Hereditary
Exocrine pancreatic insufficiency, Pancreatic calcification, Pancreatitis, Diabetes mellitus, Pan... OMIM:167800
Mitchell-Riley Syndrome
Annular pancreas, Pancreatic hypoplasia, Cholestasis, Absent gallbladder, Biliary atresia, Acholi... OMIM:615710
Neuroendocrine Tumor Of The Colon
Increased serum serotonin, Abnormal pulmonary valve cusp morphology, Chronic noninfectious lympha... ORPHA:100080
Niemann-Pick Disease, Type A
Prolonged neonatal jaundice, Hepatomegaly, Splenomegaly, Lymphadenopathy OMIM:257200
Klatskin Tumor
Lymphadenopathy, Cholangiocarcinoma, Hepatomegaly, Jaundice, Extrahepatic cholestasis ORPHA:99978
Malakoplakia
Urinary bladder inflammation, Dysuria, Abnormality of the menstrual cycle, Urinary hesitancy, Fol... ORPHA:556
Adult-Onset Still Disease
Bone marrow hypocellularity, Hepatitis, Splenomegaly, Proteinuria, Generalized lymphadenopathy, L... ORPHA:829
Fibular Hemimelia
Anophthalmia ORPHA:93323
Doors Syndrome
Increased urine alpha-ketoglutarate concentration, Short 5th finger, Nephrocalcinosis, Short dist... ORPHA:79500
Drug Reaction With Eosinophilia And Systemic Symptoms
Hepatitis, Renal insufficiency, Lymphadenopathy, Myocarditis, Tubulointerstitial nephritis, Nephr... ORPHA:139402
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Hepatic fibrosis, Dilated cardiomyopathy, Lymphadenitis, Cardiomyopathy, Cholestasis, Vesicourete... OMIM:615895
Lymphangioleiomyomatosis
Abnormal urinary color, Abnormal morphology of female internal genitalia, Pulmonary lymphangiomyo... ORPHA:538
Boutonneuse Fever
Cervical lymphadenopathy, Renal insufficiency, Lymphadenopathy ORPHA:83313
Autoimmune Lymphoproliferative Syndrome
Hepatomegaly, Chronic noninfectious lymphadenopathy, Splenomegaly, Follicular hyperplasia OMIM:601859
Tafro Syndrome
Hepatosplenomegaly, Renal insufficiency, Splenomegaly, Lymphadenopathy, Hepatomegaly, Elevated va... ORPHA:457077
Lymphoproliferative Syndrome, X-Linked, 1
Hepatomegaly, Fulminant hepatitis, Splenomegaly, Lymphadenopathy OMIM:308240
Feingold Syndrome 1
Accessory spleen, Annular pancreas, Short toe, Polysplenia, Short thumb, Ventricular septal defec... OMIM:164280
Primary Myelofibrosis
Hepatosplenomegaly, Portal hypertension, Splenomegaly, Lymphadenopathy, Hepatomegaly ORPHA:824
Cinca Syndrome
Hepatosplenomegaly, Lymphadenopathy OMIM:607115
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Neonatal insulin-dependent diabetes mellitus, Anterior pituitary agenesis, Hypoplastic tricuspid ... ORPHA:2255
Immunodeficiency 27B
Generalized lymphadenopathy OMIM:615978
Limb-Mammary Syndrome
Absent nipple, Toe syndactyly, Breast aplasia, Oligodactyly, Aplasia of the ovary, Aplasia of the... ORPHA:69085
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Type I diabetes mellitus, Hepatitis, Hypothyroidism, Glomerulonephritis, Lymphadenopathy OMIM:304790
Sézary Syndrome
Hepatomegaly, Splenomegaly, Lymphadenopathy ORPHA:3162
Holoprosencephaly
Anophthalmia, Microphthalmia ORPHA:2162
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Hypopituitarism, Absent peripheral lymph nodes in presence of infection ORPHA:98813
Annular Pancreas
Annular pancreas ORPHA:675
Pancreas, Annular
Annular pancreas OMIM:167750
Purine Nucleoside Phosphorylase Deficiency
Decreased urinary urate, Elevated urinary inosine level, Lymph node hypoplasia, Splenomegaly, Ele... OMIM:613179
Proteasome-Associated Autoinflammatory Syndrome 2
Brachydactyly, Clinodactyly, Lymphadenopathy OMIM:618048
Immune Dysregulation, Autoimmunity, And Autoinflammation
Cervical lymphadenopathy, Inguinal lymphadenopathy OMIM:620514
Lymphoproliferative Syndrome 1
Hepatomegaly, Pericardial effusion, Splenomegaly, Lymphadenopathy OMIM:613011
Cerebrooculonasal Syndrome
Anophthalmia, Optic nerve hypoplasia OMIM:605627
Pulmonary Non-Tuberculous Mycobacterial Infection
Pericardial effusion, Lymphadenopathy ORPHA:411703
Telo2-Related Intellectual Disability-Neurodevelopmental Disorder
Small hand, Rocker bottom foot, Annular pancreas, Clinodactyly, Overlapping toe, Hip contracture,... ORPHA:488642
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Annular pancreas, Vesicoureteral reflux, Cryptorchidism, Patent foramen ovale, Ventricular septal... OMIM:616975
Cinca Syndrome
Hepatomegaly, Brachydactyly, Splenomegaly, Lymphadenopathy ORPHA:1451
Diffuse Cutaneous Mastocytosis
Hepatomegaly, Abnormality of the spleen, Abnormality of the liver, Lymphadenopathy ORPHA:79456
Q Fever
Hepatitis, Abnormal heart valve morphology, Hepatosplenomegaly, Abnormality of the liver, Cholecy... ORPHA:781
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Accessory spleen, Cholestatic liver disease, Polysplenia, Exocrine pancreatic insufficiency, Hepa... OMIM:619418
Immunodeficiency 98 With Autoinflammation, X-Linked
Bone marrow hypocellularity, Type I diabetes mellitus, Splenomegaly, Lymphadenopathy, Hepatomegaly OMIM:301078
Multiple Endocrine Neoplasia Type 2
Thyroid C cell hyperplasia, Elevated circulating calcitonin concentration, Elevated circulating p... ORPHA:653
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome
Splenomegaly, Orchitis, Peritonitis, Abnormal sacroiliac joint morphology, Abnormal myocardium mo... ORPHA:32960
Wolf-Hirschhorn Syndrome
Precocious puberty, Accessory spleen, Pseudoepiphyses of the metacarpals, Short thumb, Preaxial h... OMIM:194190
Familial Mediterranean Fever
Nephropathy, Nephrocalcinosis, Splenomegaly, Orchitis, Proteinuria, Peritonitis, Pancreatitis, Ly... ORPHA:342
Immunodeficiency, Common Variable, 8, With Autoimmunity
Type I diabetes mellitus, Splenomegaly, Hypothyroidism, Generalized lymphadenopathy, Lymphadenopa... OMIM:614700
Felty Syndrome
Bone marrow hypocellularity, Splenomegaly, Lymphadenopathy, Hepatomegaly, Pericarditis ORPHA:47612
Schinzel-Giedion Syndrome
Short distal phalanx of finger, Central hypothyroidism, Annular pancreas, Short 1st metacarpal, A... ORPHA:798
Mixed Connective Tissue Disease
Nephropathy, Splenomegaly, Lymphadenopathy, Myocarditis, Hepatomegaly, Mediastinal lymphadenopath... ORPHA:809
Vaginal Atresia
Imperforate hymen, Uterus didelphys, Abnormality of the uterus, Vaginal hematocele, Transverse va... ORPHA:65681
Fanconi Anemia, Complementation Group L
Unilateral renal agenesis, Renal hypoplasia, Bone marrow hypocellularity, Absent thumb, Aplasia o... OMIM:614083
Carney Triad
Adrenal overactivity, Adrenocortical adenoma, Pheochromocytoma, Lymphadenopathy, Mediastinal lymp... ORPHA:139411
Meige Disease
Lymph node hypoplasia, Absence of lymph node germinal center ORPHA:90186
Von Hippel-Lindau Syndrome
Pancreatic cysts, Pheochromocytoma, Multiple renal cysts, Paraganglioma, Hepatic hemangioma, Epid... OMIM:193300
Mycosis Fungoides
Lymphadenopathy OMIM:254400
14Q22Q23 Microdeletion Syndrome
Optic nerve aplasia, Anophthalmia ORPHA:264200
Omenn Syndrome
Hepatomegaly, Hypoplasia of the thymus, Splenomegaly, Lymphadenopathy OMIM:603554
Immunodeficiency 10
Hepatomegaly, Nephrotic syndrome, Splenomegaly, Lymphadenopathy OMIM:612783
Aceruloplasminemia
Diabetes mellitus, Elevated hepatic iron concentration, Abnormal pancreas morphology ORPHA:48818
Neuroendocrine Tumor Of The Rectum
Increased serum serotonin, Abnormal pulmonary valve cusp morphology, Chronic noninfectious lympha... ORPHA:100081
Neuroendocrine Tumor Of Anal Canal
Increased serum serotonin, Abnormal pulmonary valve cusp morphology, Chronic noninfectious lympha... ORPHA:100082
Okamoto Syndrome
Aortic valve stenosis, Urinary incontinence, Abnormal heart morphology, Unilateral renal hypoplas... ORPHA:2729
Microgastria-Limb Reduction Defect Syndrome
Anophthalmia, Microphthalmia ORPHA:2538
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Type I diabetes mellitus, Splenomegaly, Lymphadenopathy, Hepatomegaly, Thyroiditis ORPHA:436159
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Unilateral renal agenesis, Broad hallux, Aplasia of the vagina, Postaxial polydactyly, Aplasia of... ORPHA:457284
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Type I diabetes mellitus, Hepatosplenomegaly, Hypothyroidism, Lymphadenopathy, Enlarged tonsils, ... OMIM:606367
Immunodeficiency With Hyper-Igm, Type 1
Hepatitis, Absence of lymph node germinal center, Splenomegaly, Sclerosing cholangitis, Enlarged ... OMIM:308230
Squamous Cell Carcinoma Of The Anal Canal
Neoplasm of the liver, Lymphadenopathy ORPHA:424019
Proteasome-Associated Autoinflammatory Syndrome 4
Hepatomegaly, Splenomegaly, Lymphadenopathy OMIM:619183
Von Hippel-Lindau Disease
Elevated circulating catecholamine level, Cardiomyopathy, Pancreatic cysts, Neoplasm of the pancr... ORPHA:892
Cushing Disease
Abnormal libido, Secondary amenorrhea, Increased circulating cortisol level, Increased urinary co... ORPHA:96253
Rothmund-Thomson Syndrome, Type 2
Congenital hip dislocation, Small hand, Annular pancreas, Short thumb, Hypogonadism, Cryptorchidi... OMIM:268400
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Anophthalmia, Microphthalmia ORPHA:2526
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome
Supernumerary nipple, Abnormal reproductive system morphology, Bifid uterus, Unilateral brachydac... ORPHA:1521
Cyclic Neutropenia
Cervical lymphadenopathy, Peritonitis, Recurrent tonsillitis, Lymphadenopathy ORPHA:2686
Neuroendocrine Neoplasm Of Appendix
Increased serum serotonin, Primary hypercortisolism, Chronic noninfectious lymphadenopathy, Adren... ORPHA:100079
Aggressive Systemic Mastocytosis
Hepatosplenomegaly, Portal hypertension, Lymphadenopathy, Hypersplenism ORPHA:98850
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Hepatomegaly, Splenomegaly, Lymphadenopathy OMIM:616100
Familial Hemophagocytic Lymphohistiocytosis
Cholestatic liver disease, Splenomegaly, Lymphadenopathy, Hepatomegaly, Jaundice, Abnormal renal ... ORPHA:540
Pediatric Systemic Lupus Erythematosus
Nephritis, Dark urine, Renal insufficiency, Hematuria, Proteinuria, Lymphadenopathy, Pericardial ... ORPHA:93552
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Clinodactyly of the 2nd finger, Absent middle phalanx of 5th finger, Cholestasis, Hepatosplenomeg... OMIM:266920
Immunodeficiency 97 With Autoinflammation
Hepatosplenomegaly, Mediastinal lymphadenopathy, Splenomegaly, Lymphadenopathy OMIM:619802
Primary Hepatic Neuroendocrine Carcinoma
Increased serum serotonin, Neuroendocrine neoplasm, Chronic noninfectious lymphadenopathy, Hepati... ORPHA:100085
Pontocerebellar Hypoplasia Type 7
Clitoral hypertrophy, Microphallus, Gonadal dysgenesis, Cryptorchidism, Aplasia of the uterus, Am... ORPHA:284339
Spondyloenchondrodysplasia With Immune Dysregulation
Short iliac bones, Metaphyseal sclerosis, Hypothyroidism, Tubulointerstitial fibrosis, Lymphadeno... OMIM:607944
Ulbright-Hodes Syndrome
Abnormal penis morphology, Thin ribs, Clitoral hypertrophy, Renal hypoplasia, Abnormal forearm bo... ORPHA:3404
Hyperimmunoglobulinemia D With Periodic Fever
Hepatomegaly, Peritonitis, Lymphadenopathy ORPHA:343
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Urinary retention, Absence of lymph node germinal center, Hepatosplenomegaly, Portal hypertension... ORPHA:79124
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Primary amenorrhea, Testicular atrophy, Premature ovarian insufficiency, Secondary amenorrhea, Hy... OMIM:157640
Joubert Syndrome 21
Anophthalmia OMIM:615636
Brucellosis
Sacroiliac arthritis, Hypersplenism, Abnormality of the liver, Splenomegaly, Abnormal aortic valv... ORPHA:1304
Coffin-Siris Syndrome 1
Clitoral hypertrophy, Cryptorchidism, Aplasia/Hypoplasia of the patella, Ventricular septal defec... OMIM:135900
Carney Complex
Euthyroid multinodular goiter, Follicular thyroid carcinoma, Increased circulating cortisol level... ORPHA:1359
Combined Immunodeficiency Due To Crac Channel Dysfunction
Hepatomegaly, Splenomegaly, Lymphadenopathy ORPHA:169090
Microphthalmia With Linear Skin Defects Syndrome
Anophthalmia, Microphthalmia ORPHA:2556
Gamma-Heavy Chain Disease
Hepatomegaly, Splenomegaly, Lymphadenopathy ORPHA:100026
Pancreatic Agenesis 2
Exocrine pancreatic insufficiency, Diabetes mellitus, Pancreatic hypoplasia, Pancreatic aplasia OMIM:615935
X-Linked Intellectual Disability, Snyder Type
Hypospadias, Abnormality of the Leydig cells, Cryptorchidism, Arachnodactyly, Slender toe, Long t... ORPHA:3063
Macrophage Activation Syndrome
Hepatomegaly, Splenomegaly, Hepatitis, Lymphadenopathy ORPHA:158061
Acute Monoblastic/Monocytic Leukemia
Cervical lymphadenopathy, Oliguria, Central hypothyroidism ORPHA:514
Orofaciodigital Syndrome I
Hepatic fibrosis, Clinodactyly, Radial deviation of finger, Abnormal heart morphology, Hepatic cy... OMIM:311200
Mevalonic Aciduria
Fluctuating splenomegaly, Hepatosplenomegaly, Elevated urine mevalonic acid level, Fluctuating he... OMIM:610377
Proteasome-Associated Autoinflammatory Syndrome 1
Irregular menstruation, Hypoplastic scapulae, Finger swelling, Elevated circulating thyroid-stimu... OMIM:256040
Neuroendocrine Tumor Of Stomach
Increased serum serotonin, Abnormal pulmonary valve cusp morphology, Increased circulating ACTH l... ORPHA:100075
Pancreatic Agenesis 1
Exocrine pancreatic insufficiency, Neonatal insulin-dependent diabetes mellitus, Pancreatic hypop... OMIM:260370
Melkersson-Rosenthal Syndrome
Oligosacchariduria, Lymphadenopathy ORPHA:2483
Kikuchi-Fujimoto Disease
Abnormal lymph node morphology, Cervical lymphadenopathy, Enlargement of parotid gland, Splenomeg... ORPHA:50918
Congenital Syphilis
Hepatosplenomegaly, Tibial bowing, Pancreatitis, Lymphadenopathy, Myocarditis, Prolonged neonatal... ORPHA:499009
Pulmonary Capillary Hemangiomatosis
Pericardial effusion, Mediastinal lymphadenopathy, Lymphadenopathy, Clubbing of fingers ORPHA:199241
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea
Hilar lymph node enlargement, Cholestasis, Mitral valve prolapse, Hepatomegaly, Right atrial enla... OMIM:620233
Proteasome-Associated Autoinflammatory Syndrome 3
Hepatomegaly, Finger swelling, Splenomegaly, Lymphadenopathy OMIM:617591
Bohring-Opitz Syndrome
Cholelithiasis, Annular pancreas, Urinary retention, Cardiomegaly, Abnormal cardiac septum morpho... ORPHA:97297
Ileal Neuroendocrine Tumor
Increased serum serotonin, Hydronephrosis, Lymphadenopathy, Small intestine carcinoid, Tricuspid ... ORPHA:100078
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Hepatosplenomegaly, Lymphadenopathy ORPHA:169154
Proboscis Lateralis
Optic nerve hypoplasia, Anophthalmia, Microphthalmia ORPHA:141099
Holoprosencephaly 9
Optic nerve hypoplasia, Anophthalmia, Microphthalmia OMIM:610829
Autosomal Recessive Polycystic Kidney Disease
Cholestasis, Hepatosplenomegaly, Hypersplenism, Congenital hepatic fibrosis, Hepatoblastoma, Jaun... ORPHA:731
Nephronophthisis-Like Nephropathy 1
Nephronophthisis, Stage 5 chronic kidney disease, Chronic pancreatitis, Renal corticomedullary cy... OMIM:613159
Pearson Marrow-Pancreas Syndrome
3-Methylglutaric aciduria, Type I diabetes mellitus, Exocrine pancreatic insufficiency, Macronodu... OMIM:557000
Cutaneous Neuroendocrine Carcinoma
Merkel cell skin cancer, Carcinoid tumor, Chronic noninfectious lymphadenopathy ORPHA:79140
Sarcoidosis
Nephrocalcinosis, Enlarged lacrimal glands, Parotitis, Abnormal lymph node morphology, Renal insu... ORPHA:797
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hepatomegaly, Jaundice, Splenomegaly, Lymphadenopathy OMIM:267700
Farber Disease
Hepatic fibrosis, Short toe, Short finger, Hepatosplenomegaly, Lymphadenopathy, Intrahepatic chol... ORPHA:333
Hennekam Syndrome
Finger syndactyly, Camptodactyly of finger, Horseshoe kidney, Splenomegaly, Lymphadenopathy, Pulm... ORPHA:2136
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Type I diabetes mellitus, Hepatitis, Splenomegaly, Hypothyroidism, Membranous nephropathy, Hypert... ORPHA:37042
Charge Syndrome
Anophthalmia, Microphthalmia ORPHA:138
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hepatosplenomegaly, Splenomegaly, Lymphadenopathy, Hepatomegaly, Jaundice OMIM:603553
Fraser Syndrome 1
Anophthalmia, Bilateral microphthalmos OMIM:219000
Gallbladder Neuroendocrine Tumor