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Gene: Rab11fip2 MGI:1922248

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Gene Summary

Name:
RAB11 family interacting protein 2 (class I)
Synonyms:
nRip11,  Rab11-FIP2,  A830046J09Rik,  4930470G04Rik

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
enlarged testis Rab11fip2em1(IMPC)Mbp HOM Early adult 0.00
enlarged lymph nodes Rab11fip2em1(IMPC)Mbp HOM Early adult 0.00
microphthalmia Rab11fip2em1(IMPC)Mbp HOM Early adult 0.00
abnormal lymph node morphology Rab11fip2em1(IMPC)Mbp HOM Early adult 0.00
abnormal eye morphology Rab11fip2em1(IMPC)Mbp HOM Early adult 0.00
abnormal testis morphology Rab11fip2em1(IMPC)Mbp HOM Early adult 0.00

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
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.

X-ray

XRay Images Whole Body Lateral Orientation

20 Images

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X-ray

XRay Images Whole Body Dorso Ventral

60 Images

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Human diseases caused by Rab11fip2 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 Rab11fip2 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
X-Linked Intellectual Disability-Macrocephaly-Macroorchidism Syndrome
Macroorchidism ORPHA:85320
Intellectual Developmental Disorder, X-Linked 14
Macroorchidism OMIM:300062
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)
Abnormal lymph node morphology OMIM:136580
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency
Lymphadenopathy ORPHA:319600
Immunodeficiency 38 With Basal Ganglia Calcification
Axillary lymphadenopathy, Inguinal lymphadenopathy, Lymphadenopathy OMIM:616126
Microphthalmia, Isolated 4
Absent testis, Microphthalmia OMIM:613094
Intellectual Developmental Disorder, X-Linked 2
Macroorchidism OMIM:300428
Squamous Cell Carcinoma Of The Esophagus
Lymphadenopathy ORPHA:99977
Mental retardation, x-linked, syndromic, Turner type
Macroorchidism OMIM:300706
Hepatic Venoocclusive Disease With Immunodeficiency
Absence of lymph node germinal center OMIM:235550
Familial Peripheral Male-Limited Precocious Puberty
Precocious puberty, Macroorchidism, Long penis, Oligozoospermia ORPHA:3000
Prolactin Deficiency With Obesity And Enlarged Testes
Macroorchidism, Reduced circulating prolactin concentration OMIM:264120
Nanophthalmos 1
Bilateral microphthalmos OMIM:600165
Microphthalmia, Isolated 7
Microphthalmia OMIM:613704
Nanophthalmos 2
Microphthalmia OMIM:609549
Pulmonary Nodular Lymphoid Hyperplasia
Mediastinal lymphadenopathy, Follicular hyperplasia ORPHA:60026
Partington Syndrome
Macroorchidism ORPHA:94083
Reticuloendotheliosis, X-Linked
Hepatosplenomegaly, Lymphadenopathy OMIM:312500
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Macroorchidism OMIM:300886
Mantle Cell Lymphoma
Splenomegaly, Lymphadenopathy ORPHA:52416
Intellectual Developmental Disorder, X-Linked, Syndromic, Shashi Type
Macroorchidism OMIM:300238
Microphthalmia, Isolated, With Cataract 1
Microphthalmia OMIM:156850
Megalencephaly
Macroorchidism, Long penis ORPHA:2477
Testicular Regression Syndrome
Abnormal morphology of female internal genitalia, Decreased testicular size, Agonadism, Male pseu... ORPHA:983
Mmep Syndrome
Cryptorchidism, Microphthalmia ORPHA:3434
Kerion Celsi
Lymphadenopathy ORPHA:499
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3
Microphthalmia OMIM:616335
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Anophthalmia, Microphthalmia ORPHA:85275
Immunodeficiency 75 With Lymphoproliferation
Hepatosplenomegaly, Follicular hyperplasia, Lymphadenopathy OMIM:619126
Microphthalmia/Coloboma 6
Hypoplasia of the fovea, Optic disc hypoplasia, Bilateral microphthalmos OMIM:613703
17Q11.2 Microduplication Syndrome
Macroorchidism ORPHA:139474
Spastic Paraplegia-Precocious Puberty Syndrome
Hyperplasia of the Leydig cells, Precocious puberty in males ORPHA:2826
Gombo Syndrome
Microphthalmia OMIM:233270
Kimura Disease
Abnormal salivary gland morphology, Follicular hyperplasia, Lymphadenopathy ORPHA:482
Atkin-Flaitz Syndrome
Macroorchidism ORPHA:1193
Isolated Splenogonadal Fusion
Abnormal penis morphology, Testicular mass, Polysplenia, Bilateral cryptorchidism, Abnormal scrot... ORPHA:457083
Fragile X Syndrome
Macroorchidism, postpubertal, Congenital macroorchidism OMIM:300624
X-Linked Intellectual Disability, Shashi Type
Macroorchidism ORPHA:85286
Intellectual Developmental Disorder, X-Linked 21
Macroorchidism OMIM:300143
Adenocarcinoma Of The Esophagus
Lymphadenopathy ORPHA:99976
Immunodeficiency With Hyper-Igm, Type 5
Epididymitis, Lymphadenopathy OMIM:608106
Microphthalmia/Coloboma 4
Microphthalmia OMIM:251505
Microphthalmia, Isolated 1
Anophthalmia, Microphthalmia OMIM:251600
Premature Ovarian Failure 12
Microphthalmia OMIM:616947
Microphthalmia, Syndromic 12
Bicornuate uterus, Cryptorchidism, Anophthalmia, Microphthalmia OMIM:615524
47,Xyy Syndrome
Varicocele, Azoospermia, Cryptorchidism, Micropenis, Oligozoospermia, Increased circulating gonad... ORPHA:8
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Macroorchidism, Elevated circulating growth hormone concentration ORPHA:85327
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Hypogonadism, External genital hypoplasia, Cryptorchidism, Microphthalmia ORPHA:363741
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Macroorchidism ORPHA:3077
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Microphthalmia OMIM:251700
Clark-Baraitser syndrome
Macroorchidism OMIM:300602
Biemond Syndrome Type 2
Hypogonadism, Hypogonadotropic hypogonadism, Hypospadias, Microphthalmia ORPHA:141333
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia
Nodular goiter, Abnormal lymph node morphology, Chronic noninfectious lymphadenopathy, Goiter ORPHA:97290
Isolated Follicle Stimulating Hormone Deficiency
Male hypogonadism, Decreased testicular size, Azoospermia, Gonadotropin deficiency, Hypogonadotro... ORPHA:52901
Familial Papillary Or Follicular Thyroid Carcinoma
Nodular goiter, Abnormal lymph node morphology, Chronic noninfectious lymphadenopathy, Goiter ORPHA:319487
Microphthalmia/Coloboma 5
Anophthalmia, Bilateral microphthalmos, Microphthalmia OMIM:611638
Xp22.13P22.2 Duplication Syndrome
Macroorchidism, Polycystic ovaries ORPHA:284180
Lujan-Fryns Syndrome
Macroorchidism ORPHA:776
Fragile X Syndrome
Macroorchidism ORPHA:908
Nanophthalmos
Microphthalmia ORPHA:35612
Microcephaly-Microcornea Syndrome, Seemanova Type
Hypogonadism, Microphthalmia ORPHA:2528
Immunodeficiency 104
Splenomegaly, Lymphadenopathy OMIM:608971
Microphthalmia/Coloboma 10
Anophthalmia, Microphthalmia OMIM:616428
Coloboma-Obesity-Hypogenitalism-Impaired Intellectual Development Syndrome
Hypogonadism, Cryptorchidism, Microphthalmia OMIM:601794
Microphthalmia, Isolated 2
Microphthalmia OMIM:610093
Burkitt Lymphoma
Abnormality of the ovary, Abnormality of the spleen, Abnormal lymph node morphology ORPHA:543
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Microphthalmia ORPHA:1574
Nanophthalmos 4
Microphthalmia OMIM:615972
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb
Macroorchidism, Hypospadias, Unilateral microphthalmos OMIM:618874
Functioning Gonadotropic Adenoma
Pituitary gonadotropic cell adenoma, Decreased response to growth hormone stimulation test, Panhy... ORPHA:91348
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Male hypogonadism, Macroorchidism OMIM:300055
Microphthalmia/Coloboma 7
Microphthalmia OMIM:614497
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Microphthalmia ORPHA:2432
Cataract 11, Multiple Types
Microphthalmia OMIM:610623
Autoinflammation With Episodic Fever And Lymphadenopathy
Recurrent tonsillitis, Splenomegaly, Lymphadenopathy OMIM:618852
Deafness, Autosomal Dominant 34, With Or Without Inflammation
Lymphadenopathy OMIM:617772
Microphthalmia/Coloboma 3
Microphthalmia OMIM:610092
Fryns Microphthalmia Syndrome
Unicornuate uterus, Anophthalmia, Microphthalmia OMIM:600776
Non-Functioning Pituitary Adenoma
Secondary growth hormone deficiency, Male hypogonadism, Hypopituitarism, Decreased response to gr... ORPHA:91349
Mast Cell Sarcoma
Mediastinal lymphadenopathy, Splenomegaly, Lymphadenopathy ORPHA:66661
Polyembryoma
Isosexual precocious puberty, Macroorchidism ORPHA:180229
Matthew-Wood Syndrome
Annular pancreas, Abnormality of the uterus, Anophthalmia, Cryptorchidism, Abnormal spleen morpho... ORPHA:2470
Microphthalmia, Syndromic 8
Cryptorchidism, Microphthalmia OMIM:601349
Xk Aprosencephaly Syndrome
Abnormal external genitalia, Microphthalmia ORPHA:3469
Fanconi Anemia, Complementation Group J
Bone marrow hypocellularity, Microphthalmia OMIM:609054
Immunodeficiency 32A
Lymphadenitis, Lymphadenopathy OMIM:614893
Oculocerebrocutaneous Syndrome
Cryptorchidism, Anophthalmia, Microphthalmia OMIM:164180
Mccune-Albright Syndrome
Precocious puberty, Bone marrow hypocellularity, Increased circulating prolactin concentration, G... ORPHA:562
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Splenomegaly, Lymphadenopathy ORPHA:444463
Laryngeal Neuroendocrine Tumor
Adrenocorticotropic hormone excess, Chronic noninfectious lymphadenopathy ORPHA:100083
Cerebrooculofacioskeletal Syndrome 3
Microphthalmia OMIM:616570
Follicular Lymphoma
Mediastinal lymphadenopathy, Splenomegaly, Lymphadenopathy ORPHA:545
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Splenomegaly, Lymphadenopathy ORPHA:86893
Lymphoproliferative Syndrome 3
Hepatosplenomegaly, Lymphadenopathy OMIM:618261
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Macroorchidism ORPHA:324410
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Abnormal lymph node morphology, Abnormality of the lymphatic system, Abnormal testis morphology ORPHA:54251
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Abnormal female external genitalia morphology, Endometrial carcinoma, Adrenal hyperplasia, Male p... ORPHA:90790
46,Xy Sex Reversal 10
Sex reversal, Small scrotum, Perineal hypospadias, Bifid scrotum, Gonadal dysgenesis, Decreased t... OMIM:616425
Congenital Toxoplasmosis
Lymphadenopathy, Microphthalmia ORPHA:858
Foveal Hypoplasia 2
Hypoplasia of the fovea, Microphthalmia OMIM:609218
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Cryptorchidism, Microphthalmia OMIM:613730
Congenital Fibrinogen Deficiency
Hemorrhagic ovarian cyst, Decreased testicular size, Splenic rupture, Microphthalmia, Micropenis ORPHA:335
Warburg Micro Syndrome 1
External genital hypoplasia, Cryptorchidism, Microphthalmia OMIM:600118
Microphthalmia, Isolated 6
Microphthalmia OMIM:613517
Cofs Syndrome
Hypogonadism, Microphthalmia ORPHA:1466
Granulomatous Slack Skin
Abnormal lymph node morphology ORPHA:33111
Pierpont Syndrome
Cryptorchidism, Microphthalmia ORPHA:487825
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Genital ulcers, Lymph node hypoplasia, Splenomegaly, Aplasia of the thymus, Generalized lymphaden... OMIM:602450
Trisomy 20P
Macroorchidism, Hypospadias, Cryptorchidism ORPHA:261318
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Splenomegaly, Lymphadenopathy OMIM:615513
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Fluctuating splenomegaly, Lymphadenopathy OMIM:619220
Adams-Oliver Syndrome 4
Microphthalmia OMIM:615297
Pierpont Syndrome
Micropenis, Cryptorchidism, Microphthalmia OMIM:602342
Desmoplastic Small Round Cell Tumor
Lymphadenopathy, Testicular neoplasm, Ovarian neoplasm, Mediastinal lymphadenopathy, Neoplasm of ... ORPHA:83469
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Hepatosplenomegaly, Lymphadenopathy OMIM:618982
Microphthalmia, Syndromic 16
Anophthalmia, Microphthalmia OMIM:611038
Immunodeficiency With Hyper-Igm, Type 2
Lymphadenopathy OMIM:605258
Microphthalmia, Syndromic 5
Ectopic posterior pituitary, Cryptorchidism, Anophthalmia, Microphthalmia, Micropenis, Optic nerv... OMIM:610125
Facial Clefting, Oblique, 1
Microphthalmia OMIM:600251
Immunodeficiency 76
Splenomegaly, Lymphadenopathy OMIM:619164
Xeroderma Pigmentosum, Complementation Group G
Microphthalmia OMIM:278780
Alpha-Heavy Chain Disease
Splenomegaly, Lymphadenopathy ORPHA:100025
Congenital Varicella Syndrome
Microphthalmia ORPHA:291
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
Macroorchidism OMIM:309520
Gracile Bone Dysplasia
Aniridia, Microphthalmia, Micropenis, Asplenia, Hypoplastic spleen OMIM:602361
Mu-Heavy Chain Disease
Splenomegaly, Lymphadenopathy ORPHA:100024
Rosaï-Dorfman Disease
Lymphadenopathy ORPHA:158014
Immunodeficiency With Hyper-Igm, Type 3
Absence of lymph node germinal center OMIM:606843
Arrhinia-Choanal Atresia-Microphthalmia Syndrome
Hypogonadotropic hypogonadism, Microphthalmia ORPHA:1135
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development
Microphthalmia OMIM:120433
Dihydropyrimidine Dehydrogenase Deficiency
Microphthalmia OMIM:274270
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy OMIM:300853
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Microphthalmia OMIM:614830
Microphthalmia, Syndromic 11
Agenesis of pineal gland, Microphthalmia OMIM:614402
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Follicular hyperplasia, Lymphadenopathy OMIM:619846
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Microphthalmia OMIM:616171
Idiopathic Uveal Effusion Syndrome
Microphthalmia ORPHA:209956
Meckel Syndrome, Type 8
Ambiguous genitalia, Anophthalmia, Microphthalmia OMIM:613885
Bresek Syndrome
Decreased testicular size, Optic nerve hypoplasia, Cryptorchidism, Microphthalmia ORPHA:85284
2Q24 Microdeletion Syndrome
Microphthalmia ORPHA:1617
Immunodeficiency 64 With Lymphoproliferation
Cervical lymphadenopathy, Hepatosplenomegaly, Splenomegaly, Lymphadenopathy, Mediastinal lymphade... OMIM:618534
Immunodeficiency 27B
Generalized lymphadenopathy OMIM:615978
Aromatase Deficiency
Ambiguous genitalia, female, Female pseudohermaphroditism, Cryptorchidism, Enlarged polycystic ov... ORPHA:91
Joubert Syndrome 37
Micropenis, Decreased testicular size, Cryptorchidism, Microphthalmia OMIM:619185
Cataract 9, Multiple Types
Microphthalmia OMIM:604219
Isolated Thyroid-Stimulating Hormone Deficiency
Increased circulating prolactin concentration, Goiter, Pituitary hypothyroidism, Macroorchidism, ... ORPHA:90674
Hemophagocytic Lymphohistiocytosis, Familial, 4
Splenomegaly, Lymphadenopathy OMIM:603552
Pfapa Syndrome
Splenomegaly, Lymphadenopathy ORPHA:42642
Autoimmune Lymphoproliferative Syndrome, Type Iii
Hepatosplenomegaly, Splenomegaly, Follicular hyperplasia, Generalized lymphadenopathy, Lymphadeno... OMIM:615559
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Hypoplasia of penis, Microphthalmia ORPHA:2547
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hepatosplenomegaly, Splenomegaly, Lymphadenopathy OMIM:613101
Immunodeficiency, Common Variable, 2
Splenomegaly, Follicular hyperplasia, Lymphadenopathy OMIM:240500
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma
Microphthalmia OMIM:267760
Craniotelencephalic Dysplasia
Optic nerve hypoplasia, Microphthalmia OMIM:218670
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Microphthalmia OMIM:615771
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Cervical lymphadenopathy OMIM:618987
Immunodeficiency 27A
Enlarged mesenteric lymph node, Hepatosplenomegaly, Lymphadenopathy, Splenomegaly OMIM:209950
Microphthalmia, Syndromic 13
Microphthalmia OMIM:300915
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis
Microphthalmia OMIM:610023
Craniotelencephalic Dysplasia
Septo-optic dysplasia, Microphthalmia ORPHA:1528
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Ambiguous genitalia, Microphthalmia ORPHA:93267
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Cryptorchidism, Anophthalmia, Microphthalmia, Hypoplasia of penis, Hypospadias ORPHA:77298
Developmental And Epileptic Encephalopathy 1
Micropenis, Microphthalmia OMIM:308350
Microphthalmia, Isolated 5
Microphthalmia OMIM:611040
Oculogastrointestinal Neurodevelopmental Syndrome
Vaginal fistula, Unilateral microphthalmos, Bilateral microphthalmos OMIM:619318
Immunodeficiency With Hyper-Igm, Type 4
Absence of lymph node germinal center OMIM:608184
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Hypogonadotropic hypogonadism, Microphthalmia ORPHA:48431
Immunodeficiency 54
Adrenocorticotropic hormone excess, Splenomegaly, Lymphadenopathy OMIM:609981
Neurooculocardiogenitourinary Syndrome
Microphthalmia, Bilateral cryptorchidism OMIM:618652
Fanconi Anemia, Complementation Group G
Microphthalmia OMIM:614082
Caspase 8 Deficiency
Splenomegaly, Lymphadenopathy OMIM:607271
Fish-Eye Disease
Splenomegaly, Lymphadenopathy ORPHA:79292
Microphthalmia, Isolated 8
True anophthalmia, Optic nerve hypoplasia, Anophthalmia, Microphthalmia OMIM:615113
Acquired Hypertrichosis Lanuginosa
Ovarian neoplasm, Lymphadenopathy ORPHA:2221
Nephroblastoma
Aniridia, Lymphadenopathy ORPHA:654
Immunodeficiency 103, Susceptibility To Fungal Infections
Lymphadenopathy OMIM:212050
49,Xxxyy Syndrome
Male hypogonadism, Abnormality of the testis size, Decreased testicular size, External genital hy... ORPHA:261534
Cerebrooculofacioskeletal Syndrome 2
Micropenis, Small scrotum, Microphthalmia OMIM:610756
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 1
Microphthalmia, Bone marrow hypocellularity, Decreased pineal volume OMIM:301108
Leukocyte Adhesion Deficiency, Type Iii
Hepatosplenomegaly, Splenomegaly, Abnormal lymph node morphology OMIM:612840
Warburg Micro Syndrome 4
Small scrotum, Decreased testicular size, Cryptorchidism, Microphthalmia, Micropenis OMIM:615663
Congenital Rubella Syndrome
Splenomegaly, Aplasia/Hypoplasia of the iris, Microphthalmia ORPHA:290
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome
Hypogonadism, Small scrotum, Cryptorchidism, Microphthalmia ORPHA:228390
Pleural Mesothelioma
Lymphadenopathy ORPHA:50251
Immunodeficiency 52
Splenomegaly, Lymphadenopathy OMIM:617514
Classic Mycosis Fungoides
Splenomegaly, Lymphadenopathy ORPHA:2584
Mycosis Fungoides
Lymphadenopathy OMIM:254400
Thyroid Lymphoma
Lymphadenopathy, Goiter ORPHA:97285
Immunodeficiency 109 With Lymphoproliferation
Generalized lymphadenopathy, Splenomegaly OMIM:620282
Familial Cold Autoinflammatory Syndrome 2
Splenomegaly, Lymphadenopathy OMIM:611762
Hydrolethalus
Abnormal fallopian tube morphology, Cryptorchidism, Anophthalmia, Microphthalmia ORPHA:2189
Testicular Agenesis
Absent external genitalia, Hypoplasia of the uterus, Vanishing testis, Ambiguous genitalia, Micro... ORPHA:325124
Osteopetrosis, Autosomal Recessive 8
Unilateral microphthalmos, Splenomegaly OMIM:615085
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Absent tonsils, Absence of lymph node germinal center ORPHA:277
Immune Dysregulation, Autoimmunity, And Autoinflammation
Cervical lymphadenopathy, Inguinal lymphadenopathy OMIM:620514
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Microphthalmia ORPHA:324416
Cat-Eye Syndrome
Microphthalmia ORPHA:195
Microphthalmia With Brain And Digit Anomalies
Cryptorchidism, Anophthalmia, Microphthalmia ORPHA:139471
Activated Pi3K-Delta Syndrome
Splenomegaly, Recurrent tonsillitis, Lymphadenopathy ORPHA:397596
Lymphatic Filariasis
Lymphadenitis, Abnormal scrotum morphology, Orchitis, Abnormality of the lymphatic system, Vagina... ORPHA:2035
Schnitzler Syndrome
Splenomegaly, Lymphadenopathy ORPHA:37748
Multiple Benign Circumferential Skin Creases On Limbs
Small scrotum, Abnormal scrotum morphology, Cryptorchidism, Microphthalmia, Hypospadias ORPHA:2505
Medullary Thyroid Carcinoma
Nodular goiter, Pheochromocytoma, Lymphadenopathy, Primary hyperparathyroidism ORPHA:1332
Trisomy 13
Abnormal morphology of female internal genitalia, Cryptorchidism, Anophthalmia, Displacement of t... ORPHA:3378
Thymic Neuroendocrine Tumor
Pituitary adenoma, Pituitary prolactin cell adenoma, Increased circulating prolactin concentratio... ORPHA:97289
Classic Hodgkin Lymphoma
Bone marrow hypocellularity, Lymphadenopathy, Splenomegaly ORPHA:391
Pseudomyxoma Peritonei
Lymphadenopathy ORPHA:26790
Tularemia
Cervical lymphadenopathy, Abnormal nasopharyngeal adenoid morphology, Mediastinal lymphadenopathy... ORPHA:3392
Seckel Syndrome 2
Hypospadias, Microphthalmia OMIM:606744
Hereditary Amyloidosis With Primary Renal Involvement
Abnormal lymph node morphology, Hypogonadism, Hepatosplenomegaly, Lymphadenopathy, Oligozoospermi... ORPHA:85450
Immunodeficiency 105
Hepatosplenomegaly, Absence of lymph node germinal center OMIM:619924
Cerebrooculofacioskeletal Syndrome 1
Cryptorchidism, Microphthalmia OMIM:214150
Roifman Syndrome
Hypogonadotropic hypogonadism, Hepatosplenomegaly, Lymphadenopathy ORPHA:353298
Moebius Syndrome
Micropenis, Decreased testicular size, Hypogonadotropic hypogonadism, Microphthalmia OMIM:157900
Carney Complex
Euthyroid multinodular goiter, Precocious puberty, Leydig cell neoplasia, Sertoli cell neoplasm, ... ORPHA:1359
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Microphthalmia OMIM:251270
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Microphthalmia ORPHA:1473
Osteoporosis-Pseudoglioma Syndrome
Isosexual precocious puberty, Microphthalmia ORPHA:2788
Anaplastic Thyroid Carcinoma
Nodular goiter, Lymphadenopathy, Goiter ORPHA:142
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Splenomegaly, Lymphadenopathy OMIM:618495
Indolent Systemic Mastocytosis
Splenomegaly, Lymphadenopathy ORPHA:98848
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Splenomegaly, Lymphadenopathy OMIM:150550
Warburg Micro Syndrome 3
Small scrotum, Decreased testicular size, Microphthalmia, Micropenis, Hypoplastic labia minora OMIM:614222
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1
Microphthalmia OMIM:613155
Cold Agglutinin Disease
Splenomegaly, Lymphadenopathy ORPHA:56425
Developmental Delay With Variable Neurologic And Brain Abnormalities
Microphthalmia OMIM:619694
Baraitser-Winter Syndrome 1
Micropenis, Cryptorchidism, Microphthalmia OMIM:243310
Temtamy Syndrome
Microphthalmia ORPHA:1777
Immunodeficiency, Common Variable, 1
Splenomegaly, Lymphadenopathy OMIM:607594
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3
Precocious puberty, Macroorchidism OMIM:619950
Pancreatoblastoma
Pancreatic calcification, Abnormal lymph node morphology ORPHA:677
Warburg Micro Syndrome 2
Small scrotum, Cryptorchidism, Hypoplastic labia majora, Microphthalmia, Micropenis OMIM:614225
Microphthalmia, Isolated, With Corectopia
Microphthalmia OMIM:156900
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Optic nerve hypoplasia, Microphthalmia OMIM:615181
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Microphthalmia OMIM:602501
Rere-Related Neurodevelopmental Syndrome
Hypospadias, Cryptorchidism, Microphthalmia ORPHA:494344
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Splenomegaly, Lymphadenopathy OMIM:619375
Proteus Syndrome
Long penis, Thymus hyperplasia, Neoplasm of the thymus, Lymphangioma, Splenomegaly, Enlarged poly... ORPHA:744
Lig4 Syndrome
Hypoplasia of penis, Cryptorchidism, Lymphadenopathy ORPHA:99812
Lissencephaly 8
Microphthalmia OMIM:617255
Ras-Associated Autoimmune Leukoproliferative Disorder
Splenomegaly, Follicular hyperplasia OMIM:614470
Linear Skin Defects With Multiple Congenital Anomalies 2
Microphthalmia OMIM:300887
Middle Ear Neuroendocrine Tumor
Chronic noninfectious lymphadenopathy ORPHA:100084
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Decreased response to growth hormone stimulation test, Cryptorchidism, Congenital hypoparathyroid... OMIM:241410
Lymphoproliferative Syndrome 2
Splenomegaly, Hepatosplenomegaly, Lymphadenopathy OMIM:615122
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
Cryptorchidism, Microphthalmia OMIM:618494
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type
Small scrotum, Cryptorchidism, Microphthalmia ORPHA:2728
Anterior Segment Dysgenesis 5
Hypoplasia of the fovea, Rieger anomaly, Microphthalmia, Hypoplasia of the iris OMIM:604229
Immunodeficiency 7
Splenomegaly, Lymphadenopathy OMIM:615387
Fanconi Anemia, Complementation Group S
Ovarian neoplasm, Ovarian carcinoma, Microphthalmia OMIM:617883
Meige Disease
Lymph node hypoplasia, Absence of lymph node germinal center ORPHA:90186
Heme Oxygenase 1 Deficiency
Cervical lymphadenopathy, Asplenia, Lymphadenopathy OMIM:614034
Microcephaly 20, Primary, Autosomal Recessive
Vaginal atresia, Hypoplasia of the uterus, Optic nerve hypoplasia, Microphthalmia OMIM:617914
Hartsfield Syndrome
Microphthalmia ORPHA:2117
Joubert Syndrome 22
Microphthalmia OMIM:615665
Griscelli Syndrome Type 2
Splenomegaly, Lymphadenopathy ORPHA:79477
Micro Syndrome
Cryptorchidism, Microphthalmia, Hypoplasia of penis, Hypoplastic labia minora, Clitoral hypoplasia ORPHA:2510
Meckel Syndrome, Type 5
Bile duct proliferation, Microphthalmia OMIM:611561
Baraitser-Winter Syndrome 2
Microphthalmia OMIM:614583
Cinca Syndrome
Hepatosplenomegaly, Lymphadenopathy OMIM:607115
Roifman Syndrome
Splenomegaly, Lymphadenopathy OMIM:616651
Trichothiodystrophy 3, Photosensitive
Microphthalmia, Bilateral cryptorchidism OMIM:616395
Combined Immunodeficiency Due To Zap70 Deficiency
Hepatosplenomegaly, Lymphadenitis, Lymphadenopathy, Abnormal lymph node morphology ORPHA:911
Marden-Walker Syndrome
Micropenis, Hypospadias, Cryptorchidism, Microphthalmia OMIM:248700
Braddock-Carey Syndrome 2
Microphthalmia OMIM:619981
Fanconi Anemia, Complementation Group F
Bone marrow hypocellularity, Microphallus, Decreased response to growth hormone stimulation test,... OMIM:603467
Rhabdoid Tumor
Lymphadenopathy ORPHA:69077
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Microphthalmia OMIM:613153
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Hypogonadism, External genital hypoplasia, Cryptorchidism, Anophthalmia, Microphthalmia, Hypoplas... ORPHA:2250
Ritscher-Schinzel Syndrome 3
Cryptorchidism, Microphthalmia OMIM:619135
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Cryptorchidism, Microphthalmia ORPHA:404440
Deafness-Lymphedema-Leukemia Syndrome
Bone marrow hypocellularity, Lymphadenopathy, Splenomegaly ORPHA:3226
Boutonneuse Fever
Cervical lymphadenopathy, Lymphadenopathy ORPHA:83313
Autoimmune Lymphoproliferative Syndrome, Type Iia
Splenomegaly, Chronic noninfectious lymphadenopathy, Follicular hyperplasia, Lymphadenopathy OMIM:603909
Tetraamelia-Multiple Malformations Syndrome
Vaginal atresia, Septo-optic dysplasia, Cryptorchidism, Microphthalmia ORPHA:3301
Microphthalmia With Limb Anomalies
Unilateral cryptorchidism, Anophthalmia, Microphthalmia OMIM:206920
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies
Hepatosplenomegaly, Lymphadenopathy OMIM:619750
Leishmaniasis
Splenomegaly, Lymphadenopathy ORPHA:507
Systemic-Onset Juvenile Idiopathic Arthritis
Splenomegaly, Lymphadenopathy ORPHA:85414
Fanconi Anemia, Complementation Group I
Decreased response to growth hormone stimulation test, Bone marrow hypocellularity, Optic nerve h... OMIM:609053
Kapur-Toriello Syndrome
Hypoplastic labia majora, Hypoplasia of penis, Microphthalmia ORPHA:2328
Kapur-Toriello Syndrome
Micropenis, Hypoplastic labia majora, Cryptorchidism, Microphthalmia OMIM:244300
Congenital Primary Aphakia
Aniridia, Congenital aphakia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Phthi... ORPHA:83461
Triokinase And Fmn Cyclase Deficiency Syndrome
Microphthalmia OMIM:618805
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Recurrent tonsillitis, Lymphadenitis, Hepatosplenomegaly, Splenomegaly, Lymphadenopathy OMIM:618935
Autoimmune Lymphoproliferative Syndrome
Splenomegaly, Chronic noninfectious lymphadenopathy, Follicular hyperplasia OMIM:601859
Solitary Median Maxillary Central Incisor
Decreased response to growth hormone stimulation test, Anterior hypopituitarism, Anophthalmia, Mi... OMIM:147250
Papa Syndrome
Lymphadenopathy ORPHA:69126
Frontonasal Dysplasia 1
Microphthalmia OMIM:136760
Microphthalmia-Brain Atrophy Syndrome
Bilateral microphthalmos ORPHA:77299
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Absent tonsils, Lymph node hypoplasia ORPHA:276
Mosaic Trisomy 9
Hypoplastic female external genitalia, Abnormality of the uterus, Cryptorchidism, Abnormal fallop... ORPHA:99776
Walker-Warburg Syndrome
Hypoplasia of penis, Cryptorchidism, Anophthalmia, Microphthalmia ORPHA:899
Autosomal Dominant Keratitis
Bilateral microphthalmos, Aniridia, Hypoplasia of the fovea, Macular hypoplasia, Hypoplastic iris... ORPHA:2334
Immunodeficiency 10
Splenomegaly, Lymphadenopathy, Hypoplasia of the iris OMIM:612783
Combined Immunodeficiency Due To Crac Channel Dysfunction
Splenomegaly, Lymphadenopathy, Hypoplasia of the iris ORPHA:169090
Frontonasal Dysplasia 3
Microphthalmia OMIM:613456
Fanconi Anemia, Complementation Group R
Bone marrow hypocellularity, Microphthalmia OMIM:617244
Spondylo-Ocular Syndrome
Aplasia/Hypoplasia of the lens, Microphthalmia ORPHA:85194
Deafness, X-Linked 7
Unilateral microphthalmos OMIM:301018
Meckel Syndrome
Accessory spleen, Cryptorchidism, Anophthalmia, True hermaphroditism, Aplasia/Hypoplasia of the i... ORPHA:564
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Hypopituitarism, Absent peripheral lymph nodes in presence of infection ORPHA:98813
Squamous Cell Carcinoma Of The Anal Canal
Lymphadenopathy ORPHA:424019
Pulmonary Non-Tuberculous Mycobacterial Infection
Lymphadenopathy ORPHA:411703
17Q12 Microduplication Syndrome
Microphthalmia ORPHA:261272
Sézary Syndrome
Splenomegaly, Lymphadenopathy ORPHA:3162
Cryptophthalmos, Unilateral Or Bilateral, Isolated
Microphthalmia OMIM:123570
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Cryptorchidism, Bilateral microphthalmos ORPHA:369891
Refsum Disease
Splenomegaly, Microphthalmia ORPHA:773
Chromosome 1Q41-Q42 Deletion Syndrome
Microphthalmia, Cryptorchidism, Supernumerary nipple OMIM:612530
Microphthalmia, Syndromic 3
Optic nerve aplasia, Cryptorchidism, Anophthalmia, Hypogonadotropic hypogonadism, Anterior pituit... OMIM:206900
Niemann-Pick Disease, Type A
Splenomegaly, Lymphadenopathy OMIM:257200
Encephalocraniocutaneous Lipomatosis
Hypoplasia of the iris, Cryptorchidism, Microphthalmia OMIM:613001
Manitoba Oculotrichoanal Syndrome
Vaginal atresia, Anophthalmia, Microphthalmia OMIM:248450
Griscelli Syndrome
Bone marrow hypocellularity, Lymphadenopathy, Splenomegaly ORPHA:381
Aspartylglucosaminuria
Macroorchidism, Splenomegaly ORPHA:93
Ring Chromosome 10 Syndrome
Microphthalmia ORPHA:1438
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Optic nerve hypoplasia, Microphthalmia OMIM:614833
Lymphoproliferative Syndrome, X-Linked, 1
Splenomegaly, Lymphadenopathy OMIM:308240
Proteasome-Associated Autoinflammatory Syndrome 4
Splenomegaly, Lymphadenopathy OMIM:619183
Primary Myelofibrosis
Splenomegaly, Hepatosplenomegaly, Lymphadenopathy ORPHA:824
Immunodeficiency 91 And Hyperinflammation
Hepatosplenomegaly, Lymphadenopathy OMIM:619644
Microphthalmia, Syndromic 9
Multilobulated spleen, Bilateral microphthalmos, Cryptorchidism, Anophthalmia, Hypoplasia of the ... OMIM:601186
Scrub Typhus
Splenomegaly, Lymphadenopathy ORPHA:83317
Subaortic Stenosis-Short Stature Syndrome
Microphthalmia ORPHA:3191
Anterior Segment Dysgenesis 2
Microphthalmia, Aniridia, Anterior segment of eye aplasia, Congenital aphakia OMIM:610256
Meckel Syndrome, Type 2
Bile duct proliferation, Microphthalmia OMIM:603194
Adams-Oliver Syndrome 2
Microphthalmia OMIM:614219
Nance-Horan Syndrome
Microphthalmia ORPHA:627
Proteasome-Associated Autoinflammatory Syndrome 2
Lymphadenopathy OMIM:618048
Chromosome 13Q33-Q34 Deletion Syndrome
Penoscrotal transposition, Bifid scrotum, Cryptorchidism, Microphthalmia, Hypospadias OMIM:619148
Martsolf Syndrome 1
Micropenis, Hypogonadotropic hypogonadism, Cryptorchidism, Microphthalmia OMIM:212720
Omenn Syndrome
Hypoplasia of the thymus, Splenomegaly, Lymphadenopathy OMIM:603554
American Trypanosomiasis
Splenomegaly, Lymphadenopathy ORPHA:3386
Cyclic Neutropenia
Cervical lymphadenopathy, Recurrent tonsillitis, Lymphadenopathy ORPHA:2686
Cornea Plana 2, Autosomal Recessive
Microphthalmia OMIM:217300
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Microphthalmia OMIM:614105
Nasopalpebral Lipoma-Coloboma Syndrome
Microphthalmia OMIM:167730
8Q21.11 Microdeletion Syndrome
Hypoplasia of penis, Cryptorchidism, Microphthalmia ORPHA:284160
Anterior Segment Dysgenesis 7
Buphthalmos, Microphthalmia OMIM:269400
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development
Microphthalmia OMIM:152950
Purine Nucleoside Phosphorylase Deficiency
Lymph node hypoplasia, Splenomegaly OMIM:613179
Monosomy 18P
Microphthalmia ORPHA:1598
Immunodeficiency 97 With Autoinflammation
Splenomegaly, Hepatosplenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy OMIM:619802
Congenital Disorder Of Glycosylation, Type Iq
Microphthalmia OMIM:612379
Microphthalmia, Lenz Type
Hypospadias, Cryptorchidism, Microphthalmia ORPHA:568
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Abnormally large globe, Microphthalmia OMIM:615249
Congenital Muscular Dystrophy With Cerebellar Involvement
Optic nerve hypoplasia, Microphthalmia ORPHA:370959
Bartsocas-Papas Syndrome 2
Microphthalmia OMIM:619339
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Buphthalmos, Microphthalmia OMIM:212550
Temtamy Syndrome
Microphthalmia OMIM:218340
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Microphthalmia ORPHA:231736
H Syndrome
Hypogonadism, Decreased testicular size, Azoospermia, Hepatosplenomegaly, Lymphadenopathy, Microp... ORPHA:168569
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Lens coloboma, Microphthalmia OMIM:618914
Myoclonic-Astatic Epilepsy
Microphthalmia ORPHA:1942
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Microphthalmia ORPHA:163649
Agammaglobulinemia, X-Linked
Prostatitis, Lymph node hypoplasia, Epididymitis OMIM:300755
Aggressive Systemic Mastocytosis
Hepatosplenomegaly, Lymphadenopathy, Hypersplenism ORPHA:98850
Chromosome 8Q21.11 Deletion Syndrome
Micropenis, Cryptorchidism, Microphthalmia OMIM:614230
Pseudotrisomy 13 Syndrome
Micropenis, Bicornuate uterus, Cryptorchidism, Microphthalmia OMIM:264480
Diffuse Cutaneous Mastocytosis
Abnormality of the spleen, Lymphadenopathy ORPHA:79456
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Splenomegaly, Lymphadenopathy OMIM:616100
Ohdo Syndrome, X-Linked
Small scrotum, Cryptorchidism, Shawl scrotum, Microphthalmia, Micropenis OMIM:300895
Fanconi Anemia, Complementation Group C
Bone marrow hypocellularity, Cryptorchidism, Hypergonadotropic hypogonadism, Microphthalmia OMIM:227645
Sandestig-Stefanova Syndrome
Microphthalmia OMIM:618804
Meckel Syndrome, Type 4
Bile duct proliferation, Microphthalmia OMIM:611134
Basel-Vanagaite-Smirin-Yosef Syndrome
Clitoral hypertrophy, Hypospadias, Microphthalmia OMIM:616449
Castleman Disease
Generalized lymphadenopathy, Mediastinal lymphadenopathy, Follicular hyperplasia, Lymphadenopathy ORPHA:160
Omenn Syndrome
Splenomegaly, Lymphadenopathy ORPHA:39041
Klatskin Tumor
Lymphadenopathy ORPHA:99978
Melkersson-Rosenthal Syndrome
Lymphadenopathy ORPHA:2483
Vacterl With Hydrocephalus
Abnormal fallopian tube morphology, Cryptorchidism, Anophthalmia, Microphthalmia ORPHA:3412
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Precocious puberty, Hypospadias, Anophthalmia, Microphthalmia OMIM:615877
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Microphthalmia OMIM:300863
Cinca Syndrome
Splenomegaly, Lymphadenopathy ORPHA:1451
Immunodeficiency 98 With Autoinflammation, X-Linked
Bone marrow hypocellularity, Lymphadenopathy, Splenomegaly OMIM:301078
Stevenson-Carey Syndrome
Microphthalmia OMIM:611961
Felty Syndrome
Bone marrow hypocellularity, Lymphadenopathy, Splenomegaly ORPHA:47612
Mitochondrial Complex Iv Deficiency, Nuclear Type 10
Microphthalmia OMIM:619053
Lymphoproliferative Syndrome 1
Splenomegaly, Lymphadenopathy OMIM:613011
Bosma Arhinia Microphthalmia Syndrome
Cryptorchidism, Hypogonadotropic hypogonadism, Hypoplastic labia majora, Microphthalmia, Micropen... OMIM:603457
Rodrigues Blindness
Microphthalmia OMIM:268320
Fanconi Anemia, Complementation Group E
Cryptorchidism, Hypergonadotropic hypogonadism, Microphthalmia OMIM:600901
Holoprosencephaly-Postaxial Polydactyly Syndrome
Hypospadias, Cryptorchidism, Ambiguous genitalia, Microphthalmia, Hypoplasia of penis, Thyroid hy... ORPHA:2166
Gamma-Heavy Chain Disease
Splenomegaly, Lymphadenopathy ORPHA:100026
Hypocomplementemic Urticarial Vasculitis
Splenomegaly, Lymphadenopathy ORPHA:36412
Jacobsen Syndrome
Annular pancreas, Cryptorchidism, Macular hypoplasia, Labial hypoplasia, Microphthalmia, Hypospad... OMIM:147791
Fraser Syndrome 2
Hypoplasia of the thymus, Ambiguous genitalia, Microphthalmia OMIM:617666
Fryns Syndrome
Bicornuate uterus, Hypospadias, Cryptorchidism, Microphthalmia ORPHA:2059
Frontonasal Dysplasia 2
Microphthalmia, Bilateral cryptorchidism OMIM:613451
Histiocytosis-Lymphadenopathy Plus Syndrome
Pancreatic hypoplasia, Decreased response to growth hormone stimulation test, Cervical lymphadeno... OMIM:602782
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Hepatosplenomegaly, Lymphadenopathy ORPHA:169154
Oculotrichoanal Syndrome
Anophthalmia, Microphthalmia ORPHA:2717
Tetraamelia Syndrome 1
Absent external genitalia, Adrenal gland agenesis, Microphthalmia, Vaginal atresia, Asplenia, Hyp... OMIM:273395
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies
Microphthalmia, Supernumerary nipple OMIM:620098
Otodental Syndrome
Lens coloboma, Microphthalmia ORPHA:2791
Chromosome 17Q12 Duplication Syndrome
Microphthalmia OMIM:614526
Tafro Syndrome
Hepatosplenomegaly, Splenomegaly, Lymphadenopathy ORPHA:457077
Fanconi Anemia, Complementation Group A
Cryptorchidism, Hypergonadotropic hypogonadism, Microphthalmia OMIM:227650
Familial Pancreatic Carcinoma
Pancreatic adenocarcinoma, Hepatosplenomegaly, Lymphadenopathy, Ovarian carcinoma ORPHA:1333
Pelvis-Shoulder Dysplasia
Microphthalmia OMIM:169550
Adult-Onset Still Disease
Bone marrow hypocellularity, Generalized lymphadenopathy, Lymphadenopathy, Splenomegaly ORPHA:829
Exudative Vitreoretinopathy 2, X-Linked
Microphthalmia OMIM:305390
Legionnaires Disease
Bone marrow hypocellularity, Lymphadenopathy, Splenomegaly ORPHA:549
Fanconi Anemia, Complementation Group D2
Bone marrow hypocellularity, Annular pancreas, Cryptorchidism, Microphthalmia, Micropenis, Hyperg... OMIM:227646
Treacher-Collins Syndrome
Small scrotum, Cryptorchidism, Hypoplasia of the thymus, Microphthalmia, Hypoplasia of penis, Rec... ORPHA:861
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies
Bilateral microphthalmos, Optic nerve hypoplasia OMIM:607597
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Microphthalmia ORPHA:163966
Frontofacionasal Dysplasia
Microphthalmia ORPHA:1791
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Enlarged tonsils, Hepatosplenomegaly, Lymphadenopathy OMIM:606367
Garg-Mishra Progeroid Syndrome
Microphthalmia OMIM:620601
Hyperimmunoglobulinemia D With Periodic Fever
Lymphadenopathy ORPHA:343
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Cryptorchidism, Microphthalmia, Buphthalmos, Hypoplastic male external genitalia, Optic nerve hyp... OMIM:236670
Aspartylglucosaminuria
Macroorchidism OMIM:208400
Linear Skin Defects With Multiple Congenital Anomalies 1
Clitoral hypertrophy, Ovotestis, Chordee, Microphthalmia, Micropenis, Hypoplasia of the uterus, H... OMIM:309801
Immunodeficiency, Common Variable, 8, With Autoimmunity
Splenomegaly, Generalized lymphadenopathy, Lymphadenopathy OMIM:614700
Xeroderma Pigmentosum, Complementation Group B
Hypogonadism, Microphthalmia OMIM:610651
Pallister-Hall Syndrome
Precocious puberty, Decreased response to growth hormone stimulation test, Decreased testicular s... OMIM:146510
Curry-Jones Syndrome
Microphthalmia ORPHA:1553
Nasopalpebral Lipoma-Coloboma Syndrome
Bilateral microphthalmos, Microphthalmia ORPHA:2399
Mixed Connective Tissue Disease
Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy ORPHA:809
Vitreoretinochoroidopathy
Microphthalmia OMIM:193220
Cohen Syndrome
Cryptorchidism, Microphthalmia ORPHA:193
Meckel Syndrome 14
Aplasia of the uterus, Ambiguous genitalia, Microphthalmia OMIM:619879
Heart And Brain Malformation Syndrome
Microphthalmia OMIM:616920
Immunodeficiency With Hyper-Igm, Type 1
Enlarged tonsils, Splenomegaly, Absence of lymph node germinal center OMIM:308230
Carney Triad
Pheochromocytoma, Mediastinal lymphadenopathy, Lymphadenopathy ORPHA:139411
Macrophage Activation Syndrome
Splenomegaly, Lymphadenopathy ORPHA:158061
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Splenomegaly, Lymphadenopathy ORPHA:436159
3P25.3 Microdeletion Syndrome
Microphthalmia ORPHA:435638
Igg4-Related Submandibular Gland Disease
Enlarged lacrimal glands, Abnormal pancreas morphology, Abnormality of the submandibular glands, ... ORPHA:449432
Fryns Syndrome
Hypospadias, Bifid scrotum, Polysplenia, Cryptorchidism, Shawl scrotum, Microphthalmia, Bicornuat... OMIM:229850
Holoprosencephaly
Panhypopituitarism, Abnormality of the spleen, Cryptorchidism, Anophthalmia, Microphthalmia, Hypo... ORPHA:2162
Stromme Syndrome
Accessory spleen, Optic nerve hypoplasia, Microphthalmia OMIM:243605
Poems Syndrome
Hypogonadism, Splenomegaly, Lymphadenopathy, Increased circulating prolactin concentration ORPHA:2905
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Lymphadenopathy OMIM:304790
Mevalonic Aciduria
Fluctuating splenomegaly, Hepatosplenomegaly, Lymphadenopathy OMIM:610377
1Q21.1 Microdeletion Syndrome
Cryptorchidism, Microphthalmia ORPHA:250989
Fanconi Anemia, Complementation Group L
Micropenis, Aplasia of the uterus, Bone marrow hypocellularity, Microphthalmia OMIM:614083
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness
Microphthalmia OMIM:617306
Skin Creases, Congenital Symmetric Circumferential, 1
Hypoplastic nipples, Microphthalmia OMIM:156610
Microgastria-Limb Reduction Defect Syndrome
Abnormality of the spleen, Anophthalmia, Perineal fistula, Microphthalmia, Rectovaginal fistula ORPHA:2538
Oculopalatocerebral Syndrome
Microphthalmia OMIM:257910
Joubert Syndrome 2
Hypoplastic male external genitalia, Microphthalmia OMIM:608091
Familial Hemophagocytic Lymphohistiocytosis
Splenomegaly, Lymphadenopathy ORPHA:540
Microphthalmia/Coloboma 9
Microphthalmia OMIM:615145
Cutaneous Neuroendocrine Carcinoma
Chronic noninfectious lymphadenopathy ORPHA:79140
Microphthalmia/Coloboma 12
Optic nerve aplasia, Microphthalmia OMIM:120200
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Hepatosplenomegaly, Generalized lymphadenopathy, Lymphadenitis OMIM:618986
Acute Interstitial Pneumonia
Lymphadenopathy ORPHA:79126
Fetal Alcohol Syndrome
Microphthalmia ORPHA:1915
Mosaic Trisomy 1
Micropenis, Penile hypospadias, Microphthalmia ORPHA:1692
3Q29 Microdeletion Syndrome
Hypospadias, Microphthalmia ORPHA:65286
Trichothiodystrophy 1, Photosensitive
Hypogonadism, Microphthalmia OMIM:601675
Blepharophimosis, Ptosis, And Epicanthus Inversus
Increased circulating gonadotropin level, Hypoplasia of the uterus, Microphthalmia OMIM:110100
Meckel Syndrome, Type 1
Accessory spleen, Abnormality of the uterus, Ambiguous genitalia, female, External genital hypopl... OMIM:249000
Basel-Vanagaite-Smirin-Yosef Syndrome
Cholelithiasis, Hypospadias, Male urethral meatus stenosis, Microphthalmia ORPHA:464738
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Ambiguous genitalia, Cryptorchidism, Microphthalmia OMIM:616300
Joubert Syndrome 14
Microphthalmia OMIM:614424
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Splenomegaly, Lymphadenitis, Lymphadenopathy OMIM:615895
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Buphthalmos, Microphthalmia OMIM:616538
Familial Exudative Vitreoretinopathy
Microphthalmia ORPHA:891
Hemophagocytic Lymphohistiocytosis, Familial, 2
Splenomegaly, Hepatosplenomegaly, Lymphadenopathy OMIM:603553
Pulmonary Capillary Hemangiomatosis
Mediastinal lymphadenopathy, Lymphadenopathy ORPHA:199241
Chediak-Higashi Syndrome
Macular hypoplasia, Lymphadenopathy, Splenomegaly OMIM:214500
Joint Contractures, Osteochondromas, And B-Cell Lymphoma
Generalized lymphadenopathy OMIM:620232
Bartsocas-Papas Syndrome 1
Absent external genitalia, Bilateral cryptorchidism, Hypoplastic labia majora, Ambiguous genitali... OMIM:263650
Aregenerative Anemia
Bone marrow hypocellularity, Lymphadenopathy ORPHA:101096
2Q31.1 Microdeletion Syndrome
Cryptorchidism, Microphthalmia ORPHA:251014
Hemophagocytic Lymphohistiocytosis, Familial, 1
Splenomegaly, Lymphadenopathy OMIM:267700
Microphthalmia With Linear Skin Defects Syndrome
Abnormal penis morphology, Clitoral hypertrophy, Anophthalmia, Male pseudohermaphroditism, Ambigu... ORPHA:2556
Norrie Disease
Hypoplasia of the iris, Buphthalmos, Microphthalmia OMIM:310600
Malakoplakia
Prostate neoplasm, Follicular hyperplasia, Orchitis ORPHA:556
Hyper-Igd Syndrome
Splenomegaly, Hepatosplenomegaly, Lymphadenitis, Lymphadenopathy OMIM:260920
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Accessory spleen, Cryptorchidism, Microphthalmia OMIM:620005
Oculofaciocardiodental Syndrome
Microphthalmia ORPHA:2712
Trichothiodystrophy 4, Nonphotosensitive
Microphthalmia OMIM:234050
Kikuchi-Fujimoto Disease
Abnormal lymph node morphology, Cervical lymphadenopathy, Enlargement of parotid gland, Splenomeg... ORPHA:50918
Dubowitz Syndrome
Hypoplasia of the iris, Hypospadias, Cryptorchidism, Microphthalmia OMIM:223370
Phace Association
Microphthalmia, Optic nerve hypoplasia, Lingual thyroid OMIM:606519
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies
Microphthalmia OMIM:618571
Frontorhiny
Hypopituitarism, Microphthalmia ORPHA:391474
Fanconi Anemia
Abnormality of the uterus, Hypogonadism, Azoospermia, Cryptorchidism, Aplasia/Hypoplasia of the i... ORPHA:84
Linear Skin Defects With Multiple Congenital Anomalies 3
Thyroid C cell hyperplasia, Microphthalmia OMIM:300952
Trisomy 18
Microphthalmia, Cryptorchidism, Abnormal morphology of female internal genitalia ORPHA:3380
Cousin Syndrome
Ambiguous genitalia, male, Ambiguous genitalia, female, Microphthalmia OMIM:260660
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Splenomegaly, Lymphadenitis, Lymphadenopathy OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Splenomegaly, Lymphadenitis, Lymphadenopathy OMIM:233710
3Q29 Microduplication Syndrome
Aniridia, Microphthalmia ORPHA:251038
Cockayne Syndrome B
Hypoplasia of the iris, Cryptorchidism, Splenomegaly, Microphthalmia, Micropenis OMIM:133540
Ectodermal Dysplasia-Blindness Syndrome
Microphthalmia ORPHA:1806
Proteasome-Associated Autoinflammatory Syndrome 3
Splenomegaly, Lymphadenopathy OMIM:617591
X-Linked Dominant Chondrodysplasia Punctata
Microphthalmia ORPHA:35173
Malt Lymphoma
Mediastinal lymphadenopathy, Lymphadenopathy ORPHA:52417
Autoinflammation, Panniculitis, And Dermatosis Syndrome