Gene Summary

arachidonate lipoxygenase 3

IMPC Phenotype Summary

Not Significant
Not tested


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 lymph nodes Aloxe3em1(IMPC)Mbp HET Early adult 0.00
preweaning lethality, complete penetrance Aloxe3em1(IMPC)Mbp HOM   Early adult 0.00
abnormal lymph node morphology Aloxe3em1(IMPC)Mbp HET Early adult 0.00
abnormal spleen morphology Aloxe3em1(IMPC)Mbp HET Early adult 0.00
microphthalmia Aloxe3em1(IMPC)Mbp HOM E15.5 0.00
small spleen Aloxe3em1(IMPC)Mbp HET Early adult 0.00

Download data as:  TSV  XLS

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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.


XRay Images Whole Body Dorso Ventral

60 Images


XRay Images Whole Body Lateral Orientation

20 Images

MicroCT E14.5-E15.5

Embryo reconstruction

8 Images

Human diseases caused by Aloxe3 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.

The table below shows human diseases associated to Aloxe3 by orthology or direct annotation.

Disease Similarity of
Matching phenotypes Source
Lamellar Ichthyosis
Dehydration, Hyperkeratosis, Ichthyosis, Pruritus, Erythroderma ORPHA:313
Self-Improving Collodion Baby
Ichthyosis ORPHA:281122
Ichthyosis, Congenital, Autosomal Recessive 3
Palmoplantar keratoderma, Congenital nonbullous ichthyosiform erythroderma, Hyperkeratosis, Ichth... OMIM:606545
Congenital Non-Bullous Ichthyosiform Erythroderma
Failure to thrive, Ichthyosis, Pruritus, Erythroderma, Palmoplantar keratoderma ORPHA:79394

The table below shows human diseases predicted to be associated to Aloxe3 by phenotypic similarity.

Disease Similarity of
Matching phenotypes Source
Nanophthalmos 1
Bilateral microphthalmos OMIM:600165
Microphthalmia, Isolated 7
Microphthalmia OMIM:613704
Nanophthalmos 2
Microphthalmia OMIM:609549
Cephalin Lipidosis
Abnormality of the spleen OMIM:212800
Immunodeficiency 32A
Lymphadenopathy OMIM:614893
Tuftsin Deficiency
Abnormality of the spleen OMIM:191150
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency
Lymphadenopathy ORPHA:319600
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)
Abnormality of the lymph nodes OMIM:136580
Reticuloendotheliosis, X-Linked
Anemia, Hepatosplenomegaly, Lymphadenopathy, Jaundice OMIM:312500
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Anophthalmia, Microphthalmia ORPHA:85275
Ichthyosis, Lamellar, Autosomal Dominant
Congenital nonbullous ichthyosiform erythroderma, Hyperkeratosis, Pruritus OMIM:146750
Immunodeficiency 38 With Basal Ganglia Calcification
Lymphadenopathy OMIM:616126
Hepatic Venoocclusive Disease With Immunodeficiency
Abnormality of the liver, Absence of lymph node germinal center OMIM:235550
Microphthalmia, Isolated, With Coloboma 7
Microphthalmia OMIM:614497
Keratosis, Focal Palmoplantar And Gingival
Subungual hyperkeratosis, Circumungual hyperkeratosis, Gingival hyperkeratosis, Focal friction-re... OMIM:148730
Palmoplantar Keratoderma, Norrbotten Recessive Type
Palmoplantar keratoderma, Hyperkeratosis, Recurrent cutaneous fungal infections OMIM:244850
Porokeratosis Of Mibelli
Hyperkeratosis, Porokeratosis, Pruritus ORPHA:735
Ichthyosis, Congenital, Autosomal Recessive 13
Hyperkeratosis, Hypergranulosis, Palmoplantar hyperkeratosis OMIM:617574
Porokeratosis Plantaris Palmaris Et Disseminata
Hyperkeratotic papule, Porokeratosis, Pruritus, Palmoplantar hyperkeratosis ORPHA:737
Squamous Cell Carcinoma Of The Esophagus
Lymphadenopathy ORPHA:99977
Palmoplantar Keratoderma, Nonepidermolytic, Focal 2
Palmoplantar keratoderma, Hyperkeratosis OMIM:616400
Hereditary Palmoplantar Keratoderma, Gamborg-Nielsen Type
Diffuse palmoplantar hyperkeratosis, Hyperkeratosis with erythema ORPHA:86923
Palmoplantar Keratoderma, Punctate Type Iii
Hyperkeratosis, Acrokeratosis OMIM:101850
Erythrokeratodermia Variabilis Et Progressiva 5
Hyperkeratosis, Palmoplantar hyperkeratosis OMIM:617756
Sjogren-Larsson-Like Ichthyosis Without Cns Or Eye Involvement
Hyperkeratosis, Congenital ichthyosiform erythroderma OMIM:270220
Hyperkeratosis, Thickened skin ORPHA:1659
Cole Disease
Palmoplantar keratoderma, Hyperkeratosis, Hypergranulosis OMIM:615522
Epidermolysis Bullosa Simplex 1C, Localized
Hyperkeratosis OMIM:131800
Pulmonary Nodular Lymphoid Hyperplasia
Follicular hyperplasia, Mediastinal lymphadenopathy, Plasmacytosis ORPHA:60026
Macrosomia With Microphthalmia, Lethal
Microphthalmia OMIM:248110
Premature Ovarian Failure 12
Microphthalmia OMIM:616947
Palmoplantar Keratoderma-Deafness Syndrome
Palmoplantar keratoderma, Hyperkeratosis ORPHA:2202
Microphthalmia, Isolated 1
Anophthalmia, Microphthalmia OMIM:251600
Nanophthalmos 4
Microphthalmia OMIM:615972
Acrokeratosis Verruciformis
Hyperkeratosis, Acrokeratosis OMIM:101900
Ichthyosis, Congenital, Autosomal Recessive 10
Congenital nonbullous ichthyosiform erythroderma, Hyperkeratosis, Erythroderma, Palmoplantar kera... OMIM:615024
Mantle Cell Lymphoma
Lymphadenopathy, Splenomegaly ORPHA:52416
Dowling-Degos Disease 2
Hyperkeratotic papule, Follicular hyperkeratosis OMIM:615327
Immunodeficiency 75
Decreased proportion of class-switched memory B cells, Hepatosplenomegaly, Follicular hyperplasia... OMIM:619126
Hyperkeratosis Lenticularis Perstans
Hyperkeratosis lenticularis perstans OMIM:144150
Angioma Serpiginosum, Autosomal Dominant
Hyperkeratosis OMIM:106050
Reticulate Acropigmentation Of Kitamura
Hyperkeratosis OMIM:615537
Papillomatosis, Confluent And Reticulated
Hyperkeratosis OMIM:167900
Palmoplantar Keratoderma, Nagashima Type
Hypergranulosis, Orthokeratotic hyperkeratosis OMIM:615598
Microphthalmia, Isolated, With Coloboma 6
Bilateral microphthalmos, Hypoplasia of the fovea, Optic disc hypoplasia OMIM:613703
Ichthyosis Hystrix Of Curth-Macklin
Diffuse palmoplantar hyperkeratosis, Ichthyosis, Hyperkeratosis, Recurrent skin infections ORPHA:79503
Aquagenic Palmoplantar Keratoderma
Atopic dermatitis, Palmar pruritus, Edema, Palmoplantar keratoderma, Orthokeratotic hyperkeratosis ORPHA:498359
Congenital Panfollicular Nevus
Hyperkeratosis ORPHA:139414
Epidermolysis Bullosa Simplex 4, Localized Or Generalized Intermediate, Autosomal Recessive
Hyperkeratosis OMIM:615028
Microphthalmia, Isolated, With Cataract 1
Microphthalmia OMIM:156850
Peeling Skin Syndrome 5
Hyperkeratosis OMIM:617115
Microphthalmia, Isolated, With Coloboma 4
Microphthalmia OMIM:251505
Ceroid storage disease
Abnormality of the spleen OMIM:214200
Kerion Celsi
Lymphadenopathy ORPHA:499
Epidermolysis Bullosa Dystrophica, Pretibial
Hyperkeratosis, Pruritus OMIM:131850
Chronic Hiccup
Dehydration, Weight loss ORPHA:396
Hyperkeratosis-Hyperpigmentation Syndrome
Hyperkeratosis ORPHA:1336
Microphthalmia, Isolated, With Coloboma 3
Microphthalmia OMIM:610092
Immunodeficiency 7
Lymphadenopathy, Hypereosinophilia OMIM:615387
Autosomal Dominant Epidermolytic Ichthyosis
Ichthyosis, Hyperkeratosis, Erythroderma, Palmoplantar keratoderma, Weight loss, Congenital bullo... ORPHA:312
Glycoprotein Storage Disease
Splenomegaly OMIM:232900
Insulin-Resistance Syndrome Type A
Hyperkeratosis ORPHA:2297
Erythrokeratoderma ''En Cocardes''
Hyperkeratosis ORPHA:315
Diarrhea 4, Malabsorptive, Congenital
Failure to thrive, Dehydration OMIM:610370
Diabetes Mellitus, Transient Neonatal, 1
Dehydration, Severe failure to thrive OMIM:601410
Kimura Disease
Eosinophilia, Follicular hyperplasia, Lymphadenopathy ORPHA:482
Erythrokeratodermia Variabilis Et Progressiva 3
Palmoplantar keratoderma, Hyperkeratosis, Hypergranulosis OMIM:617525
Erythrokeratodermia Variabilis Et Progressiva 4
Congenital nonbullous ichthyosiform erythroderma, Hyperkeratosis, Palmoplantar hyperkeratosis OMIM:617526
Microphthalmia, Isolated, With Coloboma 10
Anophthalmia, Microphthalmia OMIM:616428
Verrucous Hemangioma
Hyperkeratotic papule, Inflammatory abnormality of the skin ORPHA:464318
Ulerythema Ophryogenesis
Miscarriage, Follicular hyperkeratosis, Contact dermatitis, Acne, Hyperkeratotic papule ORPHA:3406
Autoinflammation With Episodic Fever And Lymphadenopathy
Hepatomegaly, Recurrent tonsillitis, Splenomegaly, Microcytic anemia, Lymphadenopathy OMIM:618852
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3
Microphthalmia OMIM:616335
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Microphthalmia OMIM:251700
Ichthyosis, Congenital, Autosomal Recessive 14
Pruritus, Hyperkeratosis, Orthokeratotic hyperkeratosis OMIM:617571
Inflammatory Skin And Bowel Disease, Neonatal, 2
Failure to thrive, Dehydration, Pustule, Edema OMIM:616069
Gombo Syndrome
Microphthalmia OMIM:233270
Autosomal Recessive Generalized Epidermolysis Bullosa Simplex
Failure to thrive, Hyperkeratosis, Pruritus, Palmoplantar hyperkeratosis ORPHA:89838
Combined Malonic And Methylmalonic Aciduria
Failure to thrive, Dehydration OMIM:614265
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Lymphopenia, Splenomegaly, Autoimmune thrombocytopenia, Hemolytic anemia, Hepatitis, Autoimmune h... ORPHA:444463
Graham Little-Piccardi-Lassueur Syndrome
Pruritus, Perifollicular hyperkeratosis ORPHA:505
Familial Reactive Perforating Collagenosis
Inflammatory abnormality of the skin, Perifolliculitis, Maculopapular exanthema, Crusting erythem... ORPHA:79147
Mast Cell Sarcoma
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Mastocytosis, Lymphadenopathy ORPHA:66661
Infantile Cataract, Skin Abnormalities, Glutamate Excess, And Impaired Intellectual Development
Hyperkeratosis OMIM:618339
Anonychia With Flexural Pigmentation
Hyperkeratosis, Follicular hyperkeratosis ORPHA:69125
Microphthalmia, Isolated 3
Anophthalmia, Microphthalmia OMIM:611038
Parana Hard Skin Syndrome
Hyperkeratosis, Thickened skin ORPHA:2812
Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis
Dehydration, Death in infancy OMIM:251850
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Pancytopenia, Decreased helper T cell proportion, Hypersplenism, Splenomegaly OMIM:183350
Acne Inversa, Familial, 2, With Or Without Dowling-Degos Disease
Chronic furunculosis, Perifolliculitis, Acne inversa, Follicular hyperkeratosis, Recurrent cutane... OMIM:613736
Microphthalmia, Isolated 4
Microphthalmia OMIM:613094
Microphthalmia, Isolated, With Coloboma 5
Anophthalmia, Bilateral microphthalmos, Microphthalmia OMIM:611638
Adenocarcinoma Of The Esophagus
Lymphadenopathy ORPHA:99976
Erythrokeratodermia Variabilis Et Progressiva 6
Pruritus, Superficial dermal perivascular inflammatory infiltrate, Parakeratosis OMIM:618531
Harlequin Ichthyosis
Dehydration, Hyperkeratosis, Ichthyosis, Erythroderma, Congenital ichthyosiform erythroderma ORPHA:457
White Sponge Nevus 2
Hyperparakeratosis, Edema OMIM:615785
Immunodeficiency 104
Lymphadenopathy, Hepatomegaly, T lymphocytopenia, Splenomegaly OMIM:608971
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Microphthalmia OMIM:615771
Lymphatic Malformation 4
Hyperkeratosis, Lymphedema OMIM:615907
Acquired Ichthyosis
Recurrent skin infections, Ichthyosis, Hyperkeratosis, Pruritus, Palmoplantar keratoderma ORPHA:454
Erythrokeratodermia Variabilis Et Progressiva 1
Erythroderma, Generalized hyperkeratosis, Hypergranulosis, Patchy palmoplantar hyperkeratosis OMIM:133200
Alpha-Methylacetoacetic Aciduria
Dehydration OMIM:203750
Moynahan Syndrome
Cachexia, Hyperkeratosis ORPHA:2574
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Intermediate Form
Pruritus, Plantar hyperkeratosis, Hyperkeratosis, Palmar hyperkeratosis ORPHA:79399
Cataract 11, Multiple Types
Microphthalmia OMIM:610623
Deafness, Autosomal Dominant 34, With Or Without Inflammation
Lymphadenopathy OMIM:617772
Lymphatic Malformation 12
Nonimmune hydrops fetalis, Death in adolescence, Neonatal death, Polyhydramnios, Hyperkeratosis, ... OMIM:620014
Keratosis Linearis With Ichthyosis Congenita And Sclerosing Keratoderma
Congenital nonbullous ichthyosiform erythroderma, Linear arrays of macular hyperkeratoses in flex... OMIM:601952
Intellectual Developmental Disorder, Fra12A Type
Erythroderma, Hyperkeratosis OMIM:136630
Vohwinkel Syndrome, Variant Form
Orthokeratosis, Hyperkeratosis, Parakeratosis, Hypergranulosis OMIM:604117
Immunodeficiency 76
Lymphopenia, Splenomegaly, B lymphocytopenia, T lymphocytopenia, Lymphadenopathy OMIM:619164
Epidermolytic Palmoplantar Keratoderma
Palmar hyperkeratosis, Diffuse palmoplantar hyperkeratosis, Palmoplantar hyperkeratosis, Epiderma... ORPHA:2199
Lymphoproliferative Syndrome 3
Hepatosplenomegaly, Lymphadenopathy, Reduced natural killer cell count OMIM:618261
Microphthalmia ORPHA:35612
Lamellar Ichthyosis
Dehydration, Hyperkeratosis, Ichthyosis, Pruritus, Erythroderma ORPHA:313
Lactase Deficiency, Congenital
Dehydration OMIM:223000
Reticular Dysgenesis
Failure to thrive, Dehydration, Weight loss, Skin rash ORPHA:33355
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Cervical lymphadenopathy, Abnormally low T cell receptor excision circle level, B lymphocytopenia OMIM:618987
Keratoderma Hereditarium Mutilans With Ichthyosis
Congenital nonbullous ichthyosiform erythroderma, Orthokeratosis, Palmoplantar hyperkeratosis, Hy... ORPHA:79395
Carcinoma Of Esophagus
Lymphadenopathy ORPHA:70482
Trichothiodystrophy 7, Nonphotosensitive
Congenital nonbullous ichthyosiform erythroderma, Ichthyosis, Follicular hyperkeratosis OMIM:618546
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Lymphopenia, Follicular hyperplasia, Autoimmune thrombocytopenia, Decreased proportion of class-s... OMIM:619846
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:86893
Focal Palmoplantar And Gingival Keratoderma
Gingival hyperkeratosis, Subungual hyperkeratosis, Palmoplantar keratoderma, Circumungual hyperke... ORPHA:2200
Bazex Syndrome
Acanthosis nigricans, Hyperkeratosis, Edema, Pruritus, Palmoplantar keratoderma, Parakeratosis ORPHA:166113
Congenital Primary Aphakia
Congenital aphakia, Microphthalmia, Aplasia/Hypoplasia affecting the anterior segment of the eye ORPHA:83461
Follicular Lymphoma
Abnormality of the peritoneum, Lymphadenopathy, Mediastinal lymphadenopathy, Splenomegaly ORPHA:545
Peeling Skin Syndrome 6
Pruritus, Orthokeratosis, Parakeratosis OMIM:618084
Infantile Digital Fibromatosis
Hyperkeratosis, Parakeratosis ORPHA:199267
Self-Improving Collodion Baby
Ichthyosis ORPHA:281122
Angioma Serpiginosum, X-Linked
Hyperkeratosis OMIM:300652
Immunodeficiency 14A, Autosomal Dominant
Splenomegaly, T lymphocytopenia, Decreased proportion of class-switched memory B cells, Increased... OMIM:615513
Burkitt Lymphoma
Abnormality of the lymph nodes, Abnormality of the spleen, Abnormality of the pancreas, Decreased... ORPHA:543
Mu-Heavy Chain Disease
Hepatomegaly, Splenomegaly, Abnormal B cell count, Anemia, Lymphadenopathy ORPHA:100024
Immunodeficiency With Hyper-Igm, Type 2
Lymphadenopathy OMIM:605258
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome
Palmoplantar keratoderma, Weight loss, Ascites ORPHA:2198
Olmsted Syndrome, X-Linked
Subungual hyperkeratosis, Palmoplantar hyperkeratosis, Hyperkeratosis, Palmoplantar keratoderma, ... OMIM:300918
Palmoplantar Keratoderma And Congenital Alopecia 2
Sclerodactyly, Hyperkeratosis, Palmoplantar hyperkeratosis OMIM:212360
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Neutropenia in presence of anti-neutropil antibodies, Fluctuating splenomegaly, Autoimmune thromb... OMIM:619220
Ichthyosis, Congenital, Autosomal Recessive 8
Ichthyosis, Orthokeratosis, Hyperkeratosis, Hypergranulosis OMIM:613943
Ichthyosis, Hystrix-Like, With Deafness
Palmoplantar hyperkeratosis, Hyperkeratosis, Ichthyosis, Erythroderma, Palmoplantar keratoderma, ... OMIM:602540
Transient Neonatal Diabetes Mellitus
Failure to thrive, Dehydration, Small for gestational age ORPHA:99886
Congenital Enterocyte Heparan Sulfate Deficiency
Dehydration, Weight loss, Edema ORPHA:103910
Corticosterone Methyloxidase Type Ii Deficiency
Failure to thrive, Dehydration, Increased circulating 18-hydroxycortisone level, Increased circul... OMIM:610600
Immunodeficiency 52
Increased proportion of gamma-delta T cells, Lymphopenia, Coombs-positive hemolytic anemia, Splen... OMIM:617514
Porokeratosis 7, Multiple Types
Porokeratosis, Parakeratosis OMIM:614714
Porokeratosis 1, Multiple Types
Porokeratosis, Parakeratosis OMIM:175800
Chilblain Lupus
Pruritis on hand, Discoid lupus rash, Inflammatory abnormality of the skin, Skin rash, Hyperkerat... ORPHA:90280
Vitamin B12-Responsive Methylmalonic Acidemia
Failure to thrive, Dehydration ORPHA:28
Pruritic Urticarial Papules And Plaques Of Pregnancy
Pruritis on hand, Eczematoid dermatitis, Pruritus on foot, Palmar pruritus, Pruritus, Increased b... ORPHA:64745
Central Diabetes Insipidus
Failure to thrive, Dehydration, Weight loss ORPHA:178029
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Microphthalmia ORPHA:1574
Pityriasis Rubra Pilaris
Orthokeratosis, Subungual hyperkeratosis, Palmoplantar keratoderma, Hypergranulosis, Parakeratosis OMIM:173200
Fish-Eye Disease
Lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:79292
Singleton-Merten Syndrome 2
Hyperkeratosis OMIM:616298
Pityriasis Rubra Pilaris
Pustule, Eczema, Subungual hyperkeratosis, Ichthyosis, Pruritus, Erythroderma, Palmoplantar kerat... ORPHA:2897
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hepatomegaly, Hemophagocytosis, Splenomegaly, Thrombocytopenia, Neutropenia, Anemia, Lymphadenopa... OMIM:603552
Microphthalmia, Isolated, With Corectopia
Microphthalmia OMIM:156900
Olmsted Syndrome 2
Palmoplantar hyperkeratosis, Perioral hyperkeratosis, Hyperkeratosis, Pruritus, Palmoplantar kera... OMIM:619208
Palmoplantar Keratoderma, Epidermolytic
Plantar hyperkeratosis, Localized epidermolytic hyperkeratosis, Palmar hyperkeratosis, Palmoplant... OMIM:144200
Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency
Dehydration, Neonatal death OMIM:602199
Asplenia, Isolated Congenital
Thrombocytosis, Asplenia, Howell-Jolly bodies OMIM:271400
Immunodeficiency 27B
Generalized lymphadenopathy OMIM:615978
Immunodeficiency 72 With Autoinflammation
Hepatosplenomegaly, Lymphadenopathy, Increased proportion of memory T cells, Increased B cell count OMIM:618982
Atrophoderma Vermiculata
Hyperkeratotic papule, Pruritus, Follicular hyperkeratosis ORPHA:79100
Isobutyryl-Coa Dehydrogenase Deficiency
Dehydration ORPHA:79159
Psoriasis 2
Psoriasiform dermatitis, Hyperkeratosis, Parakeratosis OMIM:602723
Ichthyosis, Congenital, Autosomal Recessive 6
Congenital nonbullous ichthyosiform erythroderma, Orthokeratosis, Hyperkeratosis, Erythroderma, P... OMIM:612281
Immunodeficiency With Hyper-Igm, Type 5
Lymphadenopathy OMIM:608106
Immunodeficiency 103, Susceptibility To Fungal Infections
Abnormal proportion of CD8-positive T cells, Abnormal B cell count, Hypereosinophilia, Abnormal n... OMIM:212050
Classic Mycosis Fungoides
Skin rash, Eczema, Hyperkeratosis, Pruritus, Edema ORPHA:2584
Microphthalmia, Isolated 6
Microphthalmia OMIM:613517
Granulomatous Slack Skin
Abnormality of the lymph nodes ORPHA:33111
Hodgkin Lymphoma
Lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:98293
Ichthyosis Prematurity Syndrome
Follicular hyperkeratosis, Polyhydramnios, Pruritus, Erythroderma, Generalized ichthyosis OMIM:608649
Ichthyosis, Congenital, Autosomal Recessive 9
Congenital nonbullous ichthyosiform erythroderma, Orthokeratosis, Hyperkeratosis, Erythroderma, H... OMIM:615023
Hemoglobin C-Beta-Thalassemia Syndrome
Anemia, Microcytic anemia, Abnormal hemoglobin, Splenomegaly ORPHA:231242
Tylosis With Esophageal Cancer
Diffuse palmoplantar hyperkeratosis, Parakeratosis OMIM:148500
Palmoplantar Keratoderma, Punctate Type Ia
Orthokeratosis, Hypergranulosis, Punctate palmoplantar hyperkeratosis OMIM:148600
Alpha-Heavy Chain Disease
Anemia, Lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:100025
Ras-Associated Autoimmune Leukoproliferative Disorder
Hepatomegaly, Lymphocytosis, Splenomegaly, Follicular hyperplasia, Autoimmune thrombocytopenia, M... OMIM:614470
Netherton Syndrome
Failure to thrive, Congenital nonbullous ichthyosiform erythroderma, Hypernatremic dehydration, A... OMIM:256500
Rosaï-Dorfman Disease
Anemia, Lymphadenopathy ORPHA:158014
Combined Malonic And Methylmalonic Acidemia
Failure to thrive, Dehydration ORPHA:289504
Immunodeficiency With Hyper-Igm, Type 4
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Absence of lymph node germinal center OMIM:608184
Lipoid Proteinosis Of Urbach And Wiethe
Hyperkeratosis, Thickened skin OMIM:247100
Foveal Hypoplasia 2
Hypoplasia of the fovea, Microphthalmia OMIM:609218
Palmoplantar Keratoderma I, Striate, Focal, Or Diffuse
Palmoplantar hyperkeratosis, Orthokeratotic hyperkeratosis, Palmoplantar keratoderma, Streaks of ... OMIM:148700
Erythrokeratodermia Variabilis
Weight loss, Hyperkeratosis, Skin rash, Patchy palmoplantar hyperkeratosis ORPHA:317
Peeling Skin Syndrome 4
Palmoplantar keratoderma, Ichthyosis, Orthokeratosis, Hyperkeratosis OMIM:607936
Hypercalcemia, Infantile, 1
Failure to thrive, Dehydration, Weight loss OMIM:143880
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Microphthalmia ORPHA:2432
Hyperkeratosis Lenticularis Perstans
Pruritus, Hyperkeratosis lenticularis perstans ORPHA:409
Seborrhea-Like Dermatitis With Psoriasiform Elements
Hyperkeratosis, Seborrheic dermatitis OMIM:610227
Immunodeficiency 105
Lymphopenia, Hepatosplenomegaly, B lymphocytopenia, Absence of lymph node germinal center, T lymp... OMIM:619924
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hemophagocytosis, Splenomegaly, Hepatosplenomegaly, Thrombocytopenia, Anemia, Lymphadenopathy OMIM:613101
Congenital Short Bowel Syndrome
Failure to thrive, Dehydration, Steatorrhea OMIM:615237
Leukocyte Adhesion Deficiency, Type Iii
Hepatomegaly, Leukocytosis, Abnormality of the lymph nodes, Splenomegaly, Extramedullary hematopo... OMIM:612840
Combined Oxidative Phosphorylation Deficiency 47
Failure to thrive, Dehydration OMIM:618958
Immunodeficiency With Hyper-Igm, Type 3
Absence of lymph node germinal center, Neutropenia OMIM:606843
Porokeratosis 3, Multiple Types
Porokeratosis, Parakeratosis OMIM:175900
Generalized Pseudohypoaldosteronism Type 1
Pustule, Dehydration, Atopic dermatitis, Weight loss, Failure to thrive in infancy, Glucocortocoi... ORPHA:171876
Cerebrooculofacioskeletal Syndrome 3
Microphthalmia OMIM:616570
Recessive X-Linked Ichthyosis
Ichthyosis, Hyperkeratosis ORPHA:461
Immunodeficiency 64
Splenomegaly, Cervical lymphadenopathy, Increased proportion autoreactive unresponsive CD21-/low ... OMIM:618534
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia
Chronic noninfectious lymphadenopathy, Abnormality of the lymph nodes ORPHA:97290
Pulmonary Blastoma
Weight loss ORPHA:64741
Hypotrichosis Simplex Of The Scalp
Pruritus, Atopic dermatitis, Hyperkeratosis, Parakeratosis ORPHA:90368
Pfapa Syndrome
Lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:42642
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Splenomegaly, Mediastinal lymphadenopathy, Autoimmune thrombocytopenia, Decreased proportion of C... OMIM:300853
Ichthyosis, Congenital, Autosomal Recessive 5
Congenital nonbullous ichthyosiform erythroderma, Orthokeratosis, Erythroderma, Palmoplantar kera... OMIM:604777
Early-Onset Familial Hypoaldosteronism
Failure to thrive, Dehydration, Elevated serum 11-deoxycortisol, Abnormal circulating corticoster... ORPHA:556030
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis
Ichthyosis, Hyperkeratosis, Pruritus, Palmoplantar keratoderma, Parakeratosis OMIM:615821
Intestinal Dysmotility Syndrome
Polyhydramnios, Weight loss, Failure to thrive OMIM:620045
Familial Papillary Or Follicular Thyroid Carcinoma
Chronic noninfectious lymphadenopathy, Abnormality of the lymph nodes ORPHA:319487
Pseudohypoaldosteronism, Type I, Autosomal Recessive
Failure to thrive, Dehydration, Hyperaldosteronism OMIM:264350
Methylmalonyl-Coa Epimerase Deficiency
Failure to thrive, Dehydration OMIM:251120
Meige Disease
Predominantly lower limb lymphedema, Recurrent bacterial skin infections, Facial edema, Recurrent... ORPHA:90186
Congenital Varicella Syndrome
Microphthalmia ORPHA:291
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss
Failure to thrive, Dehydration OMIM:602722
Netherton Syndrome
Congenital nonbullous ichthyosiform erythroderma, Skin rash, Dehydration, Eczema, Acanthosis nigr... ORPHA:634
Fryns Microphthalmia Syndrome
Anophthalmia, Microphthalmia OMIM:600776
Dystrophic Epidermolysis Bullosa Pruriginosa
Hyperkeratosis, Pruritus ORPHA:89843
Pemphigus Vulgaris
Acantholysis, Weight loss, Recurrent cutaneous abscess formation ORPHA:704
Hyperkeratosis, Pruritus ORPHA:79358
Weight loss ORPHA:3389
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Dehydration, Failure to thrive, Death in childhood, Death in adolescence OMIM:560000
Neuropathy, Hereditary Sensory, Type If
Hyperkeratosis OMIM:615632
Familial Renal Glucosuria
Dehydration ORPHA:69076
Ichthyosis, Congenital, Autosomal Recessive 1
Congenital nonbullous ichthyosiform erythroderma, Palmoplantar hyperkeratosis, Ichthyosis, Erythr... OMIM:242300
Pseudohypoaldosteronism, Type I, Autosomal Dominant
Failure to thrive, Dehydration, Hyperaldosteronism OMIM:177735
Hyperchlorhidrosis, Isolated
Failure to thrive, Hypernatremic dehydration OMIM:143860
Ectodermal Dysplasia-Syndactyly Syndrome 2
Palmoplantar keratoderma, Congenital bullous ichthyosiform erythroderma, Follicular hyperkeratosis OMIM:613576
Immunodeficiency 27A
Histiocytosis, Enlarged mesenteric lymph node, Leukocytosis, Splenomegaly, Hepatosplenomegaly, Th... OMIM:209950
Indolent Systemic Mastocytosis
Abnormal mast cell morphology, Hepatomegaly, Splenomegaly, Mastocytosis, Increased proportion of ... ORPHA:98848
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Hepatomegaly, Coombs-positive hemolytic anemia, Splenomegaly, Autoimmune thrombocytopenia, Decrea... OMIM:619375
Hypotrichosis 6
Pruritus, Follicular hyperkeratosis OMIM:607903
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development
Microphthalmia OMIM:120433
Mycosis Fungoides
Lymphadenopathy OMIM:254400
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Hepatomegaly, Lymphopenia, Aplasia of the thymus, Splenomegaly, Abnormally low T cell receptor ex... OMIM:602450
Cerebrooculofacioskeletal Syndrome 1
Dehydration, Failure to thrive, Death in childhood, Small for gestational age OMIM:214150
Acrokeratosis Verruciformis Of Hopf
Hyperkeratosis, Hypergranulosis, Punctate palmoplantar hyperkeratosis ORPHA:79151
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Failure to thrive, Small for gestational age, Dehydration, Ichthyosis, Death in infancy, Oligohyd... OMIM:208085
Glucose/Galactose Malabsorption
Hypertonic dehydration, Failure to thrive OMIM:606824
Olmsted Syndrome 1
Palmoplantar keratoderma, Subungual hyperkeratosis, Pruritus, Parakeratosis OMIM:614594
Ectodermal Dysplasia/Short Stature Syndrome
Hyperkeratosis OMIM:616029
Keratoderma Hereditarium Mutilans
Honeycomb palmoplantar hyperkeratosis, Hyperkeratosis, Ichthyosis ORPHA:494
Laryngeal Neuroendocrine Tumor
Chronic noninfectious lymphadenopathy ORPHA:100083
Klatskin Tumor
Cholangiocarcinoma, Hepatomegaly, Extrahepatic cholestasis, Lymphadenopathy, Jaundice ORPHA:99978
Milroy Disease
Predominantly lower limb lymphedema, Erysipelas, Hyperkeratosis, Pedal edema, Lymphedema ORPHA:79452
Myopia 27, Autosomal Dominant
Increased axial length of the globe OMIM:618827
Cold Agglutinin Disease
Hemolytic anemia, Lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:56425
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Hepatomegaly, Splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy, Decreased CD4:CD8 ratio OMIM:618495
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Splenomegaly, B lymphocytopenia, Intermittent thrombocytopenia, Neutropenia, Abnormal CD4:CD8 rat... OMIM:150550
Familial Cold Urticaria
Dehydration, Pruritus ORPHA:47045
Acrokeratoelastoidosis Of Costa
Hyperkeratotic papule, Orthokeratosis, Hypergranulosis, Palmoplantar hyperkeratosis ORPHA:38
Microphthalmia, Isolated 8
Optic nerve hypoplasia, Anophthalmia, True anophthalmia, Microphthalmia OMIM:615113
Mmep Syndrome
Microphthalmia ORPHA:3434
Lichen Planus Pemphigoides
Hyperkeratosis, Pruritus ORPHA:254478
Autoimmune Lymphoproliferative Syndrome, Type Iii
Hepatomegaly, Splenomegaly, Increased proportion autoreactive unresponsive CD21-/low B cells, Hep... OMIM:615559
Schnitzler Syndrome
Hepatomegaly, Leukocytosis, Splenomegaly, Anemia, Lymphadenopathy ORPHA:37748
Immunodeficiency, Common Variable, 2
Follicular hyperplasia, Hepatomegaly, Lymphadenopathy, Splenomegaly OMIM:240500
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Lymphopenia, B lymphocytopenia, Absence of lymph node germinal center, T lymphocytopenia, Absent ... ORPHA:277
Ichthyosis, Congenital, Autosomal Recessive 3
Palmoplantar keratoderma, Congenital nonbullous ichthyosiform erythroderma, Hyperkeratosis, Ichth... OMIM:606545
Corticosterone Methyloxidase Type I Deficiency
Failure to thrive, Dehydration OMIM:203400
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Neutrophilia, Abnormality of the lymph nodes, Abnormality of the lymphatic system, Abnormality of... ORPHA:54251
Immunodeficiency, Common Variable, 1
Neutropenia in presence of anti-neutropil antibodies, Hepatomegaly, Splenomegaly, B lymphocytopen... OMIM:607594
Cryptophthalmos, Unilateral Or Bilateral, Isolated
Microphthalmia OMIM:123570
Familial Cold Autoinflammatory Syndrome 2
Lymphadenopathy, Leukocytosis, Splenomegaly OMIM:611762
Ramon Syndrome
Failure to thrive, Hyperkeratosis ORPHA:3019
Elastosis Perforans Serpiginosa
Hyperkeratotic papule, Crusting erythematous dermatitis ORPHA:79148
Diarrhea 1, Secretory Chloride, Congenital
Polyhydramnios, Dehydration, Failure to thrive, Hyperaldosteronism OMIM:214700
Congenital Disorder Of Glycosylation, Type Im
Failure to thrive, Inflammatory abnormality of the skin, Ichthyosis, Hyperkeratosis, Death in inf... OMIM:610768
Glucose-Galactose Malabsorption
Failure to thrive, Dehydration, Weight loss ORPHA:35710
Pseudomyxoma Peritonei
Lymphadenopathy, Abnormality of the peritoneum ORPHA:26790
Enteric Anendocrinosis
Dehydration ORPHA:83620
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Failure to thrive, Dehydration ORPHA:79312
Ectodermal Dysplasia 12, Hypohidrotic/Hair/Tooth/Nail Type
Acne inversa, Orthokeratosis, Hyperkeratosis OMIM:617337
Mednik Syndrome
Ichthyosis, Hyperkeratosis ORPHA:171851
Autosomal Agammaglobulinemia
Failure to thrive, Dehydration, Skin rash, Recurrent skin infections ORPHA:33110
Bathing Suit Ichthyosis
Congenital nonbullous ichthyosiform erythroderma, Palmoplantar hyperkeratosis, Ichthyosis, Erythr... ORPHA:100976
Dextrocardia With Unusual Facies And Microphthalmia
Anophthalmia, Microphthalmia OMIM:221950
Flynn-Aird Syndrome
Hyperkeratosis OMIM:136300
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Orthokeratosis, Recurrent skin infections, Acantholysis, Erythroderma, Palmoplantar keratoderma, ... OMIM:615508
Noonan Syndrome 8
Failure to thrive, Eczema, Large for gestational age, Polyhydramnios, Hyperkeratosis, Pleural eff... OMIM:615355
Rothmund-Thomson Syndrome, Type 1
Hyperkeratosis OMIM:618625
Microphthalmia, Syndromic 11
Microphthalmia OMIM:614402
Congenital Disorder Of Glycosylation, Type If
Erythroderma, Failure to thrive, Hyperkeratosis OMIM:609180
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Microphthalmia OMIM:614830
Faciothoracogenital Syndrome
Microphthalmia OMIM:227320
Secondary Short Bowel Syndrome
Failure to thrive, Dehydration, Weight loss, Steatorrhea ORPHA:95427
Omenn Syndrome
Hepatomegaly, Splenomegaly, Eosinophilia, Hypoplasia of the thymus, Severe B lymphocytopenia, B l... OMIM:603554
Caspase 8 Deficiency
Lymphadenopathy, Decreased CD4:CD8 ratio, Splenomegaly OMIM:607271
Microphthalmia, Syndromic 12
Anophthalmia, Microphthalmia OMIM:615524
Irida Syndrome
Ichthyosis, Hyperkeratosis ORPHA:209981
Congenital Tufting Enteropathy
Failure to thrive, Dehydration, Weight loss, Steatorrhea ORPHA:92050
Insulin Autoimmune Syndrome
Acanthosis nigricans, Weight loss ORPHA:411593
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Lymphadenopathy, Lymphocytosis, Decreased mean platelet volume, Thrombocytopenia OMIM:617718
Microcephaly-Microcornea Syndrome, Seemanova Type
Microphthalmia ORPHA:2528
Autoimmune Lymphoproliferative Syndrome
Neutropenia in presence of anti-neutropil antibodies, Hepatomegaly, Coombs-positive hemolytic ane... OMIM:601859
Darier Disease
Acrokeratosis, Subungual hyperkeratotic fragments, Pruritus, Palmoplantar keratoderma, Thickened ... ORPHA:218
Xeroderma Pigmentosum, Complementation Group G
Microphthalmia OMIM:278780
Griscelli Syndrome Type 2
Hepatomegaly, Hemophagocytosis, Splenomegaly, Pancytopenia, Neutropenia, Lymphadenopathy, Jaundice ORPHA:79477
Vulvovaginal Gingival Syndrome
Pruritus, Parakeratosis ORPHA:83453
Lymphoproliferative Syndrome 2
Hepatomegaly, Hemophagocytosis, Splenomegaly, Hepatosplenomegaly, Aplastic anemia, Pancytopenia, ... OMIM:615122
Idiopathic Achalasia
Weight loss ORPHA:930
Predominantly lower limb lymphedema, Hyperparakeratosis, Hyperkeratosis, Lymphedema, Edema, Pruri... ORPHA:182
Immunodeficiency 54
Lymphadenopathy, Hepatomegaly, Reduced natural killer cell count, Splenomegaly OMIM:609981
Adrenal Hypoplasia, Congenital
Decreased circulating cortisol level, Failure to thrive, Dehydration OMIM:300200
Superficial Epidermolytic Ichthyosis
Palmoplantar keratoderma, Acantholysis, Ichthyosis, Edema ORPHA:455
Pleural Mesothelioma
Lymphadenopathy, Hepatomegaly ORPHA:50251
Adams-Oliver Syndrome 4
Microphthalmia OMIM:615297
Alpha-N-Acetylgalactosaminidase Deficiency Type 1
Hyperkeratosis, Lymphedema ORPHA:79279
Isolated Congenital Hypoglossia/Aglossia
Weight loss ORPHA:141152
Sjögren-Larsson Syndrome
Ichthyosis, Hyperkeratosis ORPHA:816
Congenital Disorder Of Glycosylation, Type Iq
Failure to thrive, Eczema, Hyperkeratosis, Ichthyosis OMIM:612379
Heme Oxygenase 1 Deficiency
Hepatomegaly, Coombs-positive hemolytic anemia, Cervical lymphadenopathy, Hemolytic anemia, Throm... OMIM:614034
Classic Hodgkin Lymphoma
Bone marrow hypocellularity, Lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:391
Ehlers-Danlos Syndrome, Beasley-Cohen Type
Bilateral microphthalmos OMIM:608763
Fanconi Anemia, Complementation Group J
Microphthalmia OMIM:609054
Knuckle Pads-Leukonychia-Sensorineural Deafness-Palmoplantar Hyperkeratosis Syndrome
Hyperkeratotic papule, Palmoplantar keratoderma, Palmoplantar hyperkeratosis ORPHA:2698
Isovaleric Acidemia
Dehydration OMIM:243500
Pachyonychia Congenita 1
Palmoplantar hyperkeratosis, Follicular hyperkeratosis OMIM:167200
Proteus Syndrome
Hyperkeratosis OMIM:176920
Hepatomegaly, Splenomegaly, Leukopenia, Abnormal macrophage morphology, Thrombocytopenia, Pancyto... ORPHA:507
Hyperpigmentation With Or Without Hypopigmentation, Familial Progressive
Hyperkeratosis OMIM:145250
Congenital Toxoplasmosis
Hepatomegaly, Thrombocytopenia, Anemia, Lymphadenopathy, Jaundice ORPHA:858
Proteasome-Associated Autoinflammatory Syndrome 4
Autoimmune hemolytic anemia, Lymphadenopathy, Hepatomegaly, Splenomegaly OMIM:619183
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Microphthalmia OMIM:616171
Immunodeficiency 10
Autoimmune hemolytic anemia, Lymphadenopathy, Thrombocytopenia OMIM:612783
Systemic-Onset Juvenile Idiopathic Arthritis
Lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:85414
Propionic Acidemia
Failure to thrive, Dehydration, Eczema OMIM:606054
Cataract 9, Multiple Types
Microphthalmia OMIM:604219
Immunodeficiency 98 With Autoinflammation, X-Linked
Hepatomegaly, Hemophagocytosis, Splenomegaly, B lymphocytopenia, Thrombocytopenia, Agranulocytosi... OMIM:301078
Lichen Planopilaris
Hyperkeratosis, Pruritus ORPHA:525
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma
Microphthalmia OMIM:267760
Epidermolysis Bullosa Simplex With Circinate Migratory Erythema
Pruritus, Parakeratosis ORPHA:158681
Middle Ear Neuroendocrine Tumor
Chronic noninfectious lymphadenopathy ORPHA:100084
Lipoid Proteinosis
Hyperkeratosis, Pustule, Thickened skin, Acne ORPHA:530
Palmoplantar Keratoderma And Congenital Alopecia 1
Epidermal hyperkeratosis, Palmoplantar keratoderma, Plantar hyperkeratosis OMIM:104100
Deafness-Lymphedema-Leukemia Syndrome
Hepatomegaly, Leukocytosis, Splenomegaly, Myeloproliferative disorder, Thrombocytopenia, Abnormal... ORPHA:3226
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features
Acanthosis nigricans, Xerostomia, Hyperkeratosis, Ichthyosis, Parakeratosis OMIM:618527
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Hypoplasia of the thymus, B lymphocytopenia, T lymphocytopenia, Impaired lymphocyte transformatio... OMIM:619313
Idiopathic Uveal Effusion Syndrome
Microphthalmia ORPHA:209956
Neoplasm of the liver, Lymphadenopathy ORPHA:654
Lymphoproliferative Syndrome, X-Linked, 1
Neutropenia, Hepatomegaly, Lymphocytosis, Hemophagocytosis, Splenomegaly, Fulminant hepatitis, Ap... OMIM:308240
Cinca Syndrome
Leukocytosis, Eosinophilia, Hepatosplenomegaly, Anemia, Lymphadenopathy OMIM:607115
Peeling Skin With Leukonychia, Acral Punctate Keratoses, Cheilitis, And Knuckle Pads
Palmoplantar keratoderma, Hyperkeratosis OMIM:616295
Familial Benign Chronic Pemphigus
Acantholysis, Hyperkeratosis ORPHA:2841
Primary Myelofibrosis
Hepatomegaly, Leukocytosis, Splenomegaly, Extramedullary hematopoiesis, Hepatosplenomegaly, Throm... ORPHA:824
Autoimmune Lymphoproliferative Syndrome, Type Iia
Neutropenia in presence of anti-neutropil antibodies, Hepatomegaly, Coombs-positive hemolytic ane... OMIM:603909
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Dehydration, Oligohydramnios, Neonatal death OMIM:263200
Dihydropyrimidine Dehydrogenase Deficiency
Microphthalmia OMIM:274270
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Fkbp22 Deficiency
Follicular hyperkeratosis ORPHA:300179
Ichthyosis, Congenital, Autosomal Recessive 11
Hyperkeratosis, Congenital ichthyosiform erythroderma, Pruritus OMIM:602400
Biemond Syndrome Type 2
Microphthalmia ORPHA:141333
Vitamin B12-Unresponsive Methylmalonic Acidemia
Dehydration ORPHA:27
Ichthyosis, Congenital, Autosomal Recessive 2
Congenital nonbullous ichthyosiform erythroderma, Hyperkeratosis, Palmoplantar keratoderma, Conge... OMIM:242100
Lymphoproliferative Syndrome 1
Hepatomegaly, Splenomegaly, Leukopenia, Autoimmune thrombocytopenia, Thrombocytopenia, Decreased ... OMIM:613011
Cardiofaciocutaneous Syndrome 3
Failure to thrive, Hyperkeratosis OMIM:615279
Undifferentiated Pleomorphic Sarcoma
Weight loss ORPHA:2023
Gamma-Heavy Chain Disease
Hepatomegaly, Splenomegaly, Anemia, Autoimmune thrombocytopenia, Thrombocytopenia, Autoimmune hem... ORPHA:100026
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Microphthalmia OMIM:212550
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis
Microphthalmia OMIM:610023
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Failure to thrive, Dehydration OMIM:251000
Hidrotic Ectodermal Dysplasia
Palmoplantar hyperkeratosis, Palmoplantar keratoderma, Hyperkeratotic papule, Cobblestone-like hy... ORPHA:189
Fanconi Anemia, Complementation Group G
Microphthalmia OMIM:614082
Anterior Segment Dysgenesis 7
Buphthalmos, Microphthalmia OMIM:269400
Desmoplastic Small Round Cell Tumor
Neoplasm of the pancreas, Hepatomegaly, Mediastinal lymphadenopathy, Abnormality of the peritoneu... ORPHA:83469
Huntington Disease-Like 2
Weight loss ORPHA:98934
Microphthalmia, Syndromic 13
Microphthalmia OMIM:300915
Failure to thrive, Dehydration ORPHA:213
Osteootohepatoenteric Syndrome
Failure to thrive, Dehydration, Weight loss, Pruritus OMIM:619377
Hypercarotenemia And Vitamin A Deficiency, Autosomal Recessive
Follicular hyperkeratosis OMIM:277350
Microcephaly 20, Primary, Autosomal Recessive
Optic nerve hypoplasia, Microphthalmia OMIM:617914
Combined Immunodeficiency Due To Zap70 Deficiency
Lymphocytosis, Abnormality of the lymph nodes, Hepatosplenomegaly, Lymphadenitis, Eosinophilia, A... ORPHA:911
Craniotelencephalic Dysplasia
Optic nerve hypoplasia, Microphthalmia OMIM:218670
Muscular Dystrophy, Congenital, Davignon-Chauveau Type
Follicular hyperkeratosis OMIM:617066
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Lymphopenia, Recurrent tonsillitis, Splenomegaly, Hepatosplenomegaly, Lymphadenitis, Acute pancre... OMIM:618935
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency
Pustule, Superficial dermal perivascular inflammatory infiltrate, Pruritus, Parakeratosis, Predom... ORPHA:284426
Acquired Hypertrichosis Lanuginosa
Weight loss, Acanthosis nigricans, Ichthyosis, Thickened skin ORPHA:2221
Syndromic Recessive X-Linked Ichthyosis
Ichthyosis, Hyperkeratosis ORPHA:281090
Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis
Joint swelling, Pustule, Skin rash, Hyperkeratosis, Failure to thrive in infancy OMIM:612852
Dowling-Degos Disease
Hyperkeratotic papule, Acne inversa, Hyperkeratosis, Pruritus ORPHA:79145
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Decreased proportion of naive T cells, Hepatomegaly, Lymphopenia, Abnormally low T cell receptor ... ORPHA:276
Malignant Peritoneal Mesothelioma
Weight loss, Pedal edema, Ascites ORPHA:168811
Abnormal nasopharyngeal adenoid morphology, Leukocytosis, Cervical lymphadenopathy, Mediastinal l... ORPHA:3392
Rhabdoid Tumor
Anemia, Lymphadenopathy, Neoplasm of the liver, Thrombocytopenia ORPHA:69077
Isolated Optic Nerve Hypoplasia/Aplasia
Optic nerve hypoplasia, Aplasia/Hypoplasia of the iris, Optic disc hypoplasia, Unilateral microph... ORPHA:137902
2Q24 Microdeletion Syndrome
Microphthalmia ORPHA:1617
Juvenile Idiopathic Arthritis
Joint swelling, Skin rash, Generalized hyperkeratosis, Pericardial effusion, Psoriasiform dermati... ORPHA:92
Meckel Syndrome, Type 8
Anophthalmia, Microphthalmia OMIM:613885
Hypotrichosis With Juvenile Macular Degeneration
Hyperkeratosis ORPHA:1573
Squamous Cell Carcinoma Of The Anal Canal
Neoplasm of the liver, Lymphadenopathy ORPHA:424019
Microvillus Inclusion Disease
Dehydration, Pruritus ORPHA:2290
Xk Aprosencephaly Syndrome
Microphthalmia ORPHA:3469
Progressive Nodular Histiocytosis
Cachexia ORPHA:158022
Pancreatic calcification, Jaundice, Abnormality of the lymph nodes ORPHA:677
Immunodeficiency 97 With Autoinflammation
Neutropenia in presence of anti-neutropil antibodies, Lymphopenia, Hemophagocytosis, Splenomegaly... OMIM:619802
Ichthyosis, Spastic Quadriplegia, And Mental Retardation
Ichthyosis, Hyperkeratosis OMIM:614457
Lissencephaly Syndrome, Norman-Roberts Type
Hypoplastic spleen ORPHA:89844
Manitoba Oculotrichoanal Syndrome
Anophthalmia, Microphthalmia OMIM:248450
Lysosomal Acid Lipase Deficiency
Failure to thrive, Steatorrhea, Cachexia, Dehydration, Hypertriglyceridemia, Pruritus, Hyperchole... ORPHA:275761
Griscelli Syndrome
Hepatomegaly, Splenomegaly, Leukopenia, Thrombocytopenia, Abnormality of neutrophils, Hepatitis, ... ORPHA:381
Gaucher Disease, Perinatal Lethal
Congenital nonbullous ichthyosiform erythroderma, Decreased body weight, Nonimmune hydrops fetali... OMIM:608013
Isaacs Syndrome
Weight loss ORPHA:84142
Thymic Carcinoma
Weight loss, Palpebral edema, Edema ORPHA:99868
Sézary Syndrome
Abnormal lymphocyte morphology, Lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:3162
Aggressive Systemic Mastocytosis
Neutropenia, Abnormal mast cell morphology, Leukocytosis, Hepatosplenomegaly, Thrombocytopenia, I... ORPHA:98850
Congenital Disorder Of Glycosylation, Type Iil
Failure to thrive, Hyperkeratosis, Death in infancy, Peau d'orange OMIM:614576
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Failure to thrive, Weight loss, Cachexia OMIM:612075
Beta-Ketothiolase Deficiency
Dehydration, Weight loss, Edema ORPHA:134
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy
Cachexia ORPHA:1216
Methylmalonic Aciduria, Cblb Type
Failure to thrive, Dehydration OMIM:251110
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Microphthalmia ORPHA:324416
Eosinophilic Gastroenteritis
Steatorrhea, Atopic dermatitis, Edema, Weight loss, Ascites ORPHA:2070
Lipodystrophy Due To Peptidic Growth Factors Deficiency
Palmoplantar keratoderma, Weight loss, Cachexia, Thickened skin ORPHA:1979
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)
Slender build, Cachexia, Weight loss OMIM:613662
Eosinophilic Fasciitis
Muscular edema, Weight loss, Edema ORPHA:3165
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Hepatomegaly, Lymphopenia, Splenomegaly, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia... OMIM:616100
Diabetes Insipidus, Nephrogenic, 2, Autosomal
Hypertonic dehydration, Failure to thrive OMIM:125800
Diabetes Insipidus, Nephrogenic, 1, X-Linked
Hypertonic dehydration, Failure to thrive OMIM:304800
Niemann-Pick Disease, Type A
Sea-blue histiocytosis, Hepatomegaly, Splenomegaly, Microcytic anemia, Bone-marrow foam cells, Pr... OMIM:257200
Congenital Non-Bullous Ichthyosiform Erythroderma
Failure to thrive, Ichthyosis, Pruritus, Erythroderma, Palmoplantar keratoderma ORPHA:79394
Cofs Syndrome
Microphthalmia ORPHA:1466
Wolcott-Rallison Syndrome
Decreased body weight, Dehydration, Ascites ORPHA:1667
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Lymphopenia, Lymphocytosis, Hepatosplenomegaly, Eosinophilia, Autoimmune thrombocytopenia, T lymp... ORPHA:169154
Gracile Bone Dysplasia
Hypoplastic spleen, Asplenia OMIM:602361
Purine Nucleoside Phosphorylase Deficiency
Neutropenia in presence of anti-neutropil antibodies, Lymphopenia, Splenomegaly, Autoimmune throm... OMIM:613179
Keratosis Follicularis Spinulosa Decalvans, X-Linked
Palmoplantar keratoderma, Folliculitis, Follicular hyperkeratosis OMIM:308800
Methylmalonic Aciduria, Cbla Type
Failure to thrive, Dehydration OMIM:251100
Neonatal Lupus Erythematosus
Skin rash, Maculopapular exanthema, Hyperkeratosis, Malar rash, Parakeratosis ORPHA:398124
Pachyonychia Congenita
Failure to thrive, Palmar hyperkeratosis, Linear arrays of macular hyperkeratoses in flexural are... ORPHA:2309
Thyroid Lymphoma
Lymphadenopathy ORPHA:97285
Pachyonychia Congenita 3
Palmar hyperkeratosis, Plantar hyperkeratosis, Follicular hyperkeratosis, Palmoplantar keratoderm... OMIM:615726
Craniotelencephalic Dysplasia
Septo-optic dysplasia, Microphthalmia ORPHA:1528
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis
Skin rash, Palmoplantar pustulosis, Acne, Pruritus, Edema, Weight loss, Psoriasiform dermatitis ORPHA:324964
Ectodermal Dysplasia-Sensorineural Deafness Syndrome
Hyperkeratosis ORPHA:1883
Ichthyosis-Alopecia-Eclabion-Ectropion-Intellectual Disability Syndrome
Generalized hyperkeratosis, Generalized ichthyosis ORPHA:2269
Pilodental Dysplasia With Refractive Errors
Follicular hyperkeratosis OMIM:262020
Renal Hypoplasia
Dehydration, Small for gestational age ORPHA:93101
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Neutropenia, Lymphopenia, Abnormally low T cell receptor excision circle level, Lymphadenitis, He... OMIM:618986
Galactose Epimerase Deficiency
Weight loss ORPHA:79238
Palmoplantar Carcinoma, Multiple Self-Healing
Palmoplantar keratoderma, Parakeratosis, Follicular hyperkeratosis OMIM:615225
Oculocerebrocutaneous Syndrome
Anophthalmia, Microphthalmia OMIM:164180
Kaposi Sarcoma
Generalized lymphadenopathy, Abnormality of the spleen, Abnormality of the liver ORPHA:33276
Diffuse Cutaneous Mastocytosis
Hepatomegaly, Lymphocytosis, Myeloproliferative disorder, Abnormality of the spleen, Lymphadenopa... ORPHA:79456
Omenn Syndrome
Hepatomegaly, Leukocytosis, Splenomegaly, Eosinophilia, Abnormal lymphocyte morphology, Anemia, L... ORPHA:39041
Mulibrey Nanism
Cachexia ORPHA:2576
Perifollicular hyperkeratosis OMIM:158000
Cyclic Neutropenia
Lymphopenia, Recurrent tonsillitis, Cervical lymphadenopathy, Peritonitis, Thrombocytopenia, Cycl... ORPHA:2686
Follicular hyperkeratosis ORPHA:573
Pearson Marrow-Pancreas Syndrome
Failure to thrive, Steatorrhea, Small for gestational age, Dehydration, Death in childhood, Hydro... OMIM:557000
Pyogenic Arthritis-Pyoderma Gangrenosum-Acne Syndrome
Lymphadenopathy ORPHA:69126
Macrophage Activation Syndrome
Neutropenia, Hepatomegaly, Hemophagocytosis, Splenomegaly, Thrombocytopenia, Hepatitis, Abnormal ... ORPHA:158061
Roifman Syndrome
Eosinophilia, Lymphadenopathy, Hepatomegaly, Splenomegaly OMIM:616651
Spinocerebellar Ataxia 34
Epidermal hyperkeratosis, Erythroderma OMIM:133190
Medullary Thyroid Carcinoma
Lymphadenopathy, Abnormal liver parenchyma morphology ORPHA:1332
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome
Cachexia ORPHA:1144
Bullous Pemphigoid
Eczema, Weight loss, Psoriasiform dermatitis ORPHA:703
Cat-Eye Syndrome
Microphthalmia ORPHA:195
Leopard Syndrome 3
Epidermal hyperkeratosis, Hyperkeratosis OMIM:613707
Multicentric Reticulohistiocytosis
Cachexia ORPHA:139436
Anterior Segment Dysgenesis 5
Rieger anomaly, Microphthalmia, Hypoplasia of the fovea, Hypoplasia of the iris OMIM:604229
Linear Verrucous Nevus Syndrome
Hyperkeratosis ORPHA:2611
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome
Overweight, Follicular hyperkeratosis ORPHA:486815
Costello Syndrome
Polyhydramnios, Acanthosis nigricans, Hyperkeratosis, Failure to thrive in infancy ORPHA:3071
Aregenerative Anemia
Abnormal proportion of CD8-positive T cells, Neutropenia, Thrombocytopenia, Erythroid hypoplasia,... ORPHA:101096
Boutonneuse Fever
Cervical lymphadenopathy, Leukopenia, Lymphadenopathy, Thrombocytopenia ORPHA:83313
Microphthalmia, Isolated 5
Microphthalmia OMIM:611040
Poikiloderma With Neutropenia
Skin rash, Plantar hyperkeratosis, Hyperkeratosis, Edema, Palmoplantar keratoderma OMIM:604173
Diencephalic Syndrome
Cachexia, Decreased body weight ORPHA:1672
Darier-White Disease
Acantholysis, Pruritus, Acrokeratosis, Subungual hyperkeratotic fragments OMIM:124200
Proteasome-Associated Autoinflammatory Syndrome 2
B lymphocytopenia, Increased CD4:CD8 ratio, Decreased proportion of memory B cells, Thrombocytope... OMIM:618048
Joint swelling, Weight loss ORPHA:668
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Hyperkeratosis, Death in infancy ORPHA:163966
Immunodeficiency 91 And Hyperinflammation
Hepatomegaly, Neutrophilia, Hemophagocytosis, Hepatosplenomegaly, Monocytosis, Thrombocytopenia, ... OMIM:619644
Microphthalmia, Syndromic 8
Microphthalmia OMIM:601349
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Decreased circulating cortisol level, Failure to thrive, Dehydration ORPHA:90791
Familial Keratoacanthoma
Hyperkeratosis ORPHA:493
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies
Hepatosplenomegaly, Lymphadenopathy, Microcytic anemia OMIM:619750
Pierpont Syndrome
Microphthalmia ORPHA:487825
Combined Immunodeficiency Due To Crac Channel Dysfunction
Hepatomegaly, Splenomegaly, Hemolytic anemia, Thrombocytopenia, Lymphadenopathy ORPHA:169090
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Microphthalmia ORPHA:1473
Majeed Syndrome
Failure to thrive, Inflammatory abnormality of the skin, Pustule, Cachexia, Edema, Acne, Weight loss ORPHA:77297
Psoriasis 14, Pustular
Psoriasiform dermatitis, Pustule, Parakeratosis OMIM:614204
Congenital Muscular Dystrophy Due To Lmna Mutation
Cachexia, Death in infancy ORPHA