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Gene: Aloxe3 MGI:1345140

Gene Summary

Name:

arachidonate lipoxygenase 3

Synonyms:

e-LOX-3

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	Allele	Zyg	Life Stage
embryonic growth retardation	Aloxe3^em1(IMPC)Mbp	HET	E15.5
abnormal spleen morphology	Aloxe3^em1(IMPC)Mbp	HET	Early adult
embryonic growth retardation	Aloxe3^em1(IMPC)Mbp	HOM	E15.5
hemorrhage	Aloxe3^em1(IMPC)Mbp	HET	E15.5
small spleen	Aloxe3^em1(IMPC)Mbp	HET	Early adult
enlarged lymph nodes	Aloxe3^em1(IMPC)Mbp	HET	Early adult
preweaning lethality, complete penetrance	Aloxe3^em1(IMPC)Mbp	HOM	Early adult
abnormal lymph node morphology	Aloxe3^em1(IMPC)Mbp	HET	Early adult
microphthalmia	Aloxe3^em1(IMPC)Mbp	HOM	E15.5

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lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

X-ray

XRay Images Whole Body Dorso Ventral

80 Images

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MicroCT E14.5-E15.5

Embryo reconstruction

8 Images

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X-ray

XRay Images Whole Body Lateral Orientation

40 Images

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Gross Morphology Embryo E14.5-E15.5

Images

14 Images

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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.

Human diseases associated with Aloxe3 (4 diseases)
Human diseases predicted to be associated with Aloxe3 (1219 diseases)

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

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

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

Disease	Matching phenotypes	Source
Cephalin Lipidosis	Abnormality of the spleen	OMIM:212800
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)	Abnormal lymph node morphology	OMIM:136580
Nanophthalmos 1	Bilateral microphthalmos	OMIM:600165
Microphthalmia, Isolated 7	Microphthalmia	OMIM:613704
Nanophthalmos 2	Microphthalmia	OMIM:609549
Reticuloendotheliosis, X-Linked	Hepatosplenomegaly, Jaundice, Anemia, Lymphadenopathy	OMIM:312500
Ichthyosis, Lamellar, Autosomal Dominant	Pruritus, Hyperkeratosis, Congenital nonbullous ichthyosiform erythroderma	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
Keratosis, Focal Palmoplantar And Gingival	Circumungual hyperkeratosis, Subungual hyperkeratosis, Gingival hyperkeratosis, Focal friction-re...	OMIM:148730
Palmoplantar Keratoderma, Nonepidermolytic, Focal 1	Perioral hyperkeratosis, Palmoplantar keratoderma, Follicular hyperkeratosis, Congenital bullous ...	OMIM:613000
Hereditary Progressive Mucinous Histiocytosis	Mucinous histiocytosis, Lymphadenopathy	ORPHA:158025
Ichthyosis, Congenital, Autosomal Recessive 13	Ichthyosis, Hyperkeratosis, Hypergranulosis, Palmoplantar hyperkeratosis	OMIM:617574
Palmoplantar Keratoderma, Norrbotten Recessive Type	Hyperkeratosis, Palmoplantar keratoderma, Recurrent cutaneous fungal infections	OMIM:244850
Porokeratosis Of Mibelli	Pruritus, Hyperkeratosis, Porokeratosis	ORPHA:735
Porokeratosis Plantaris Palmaris Et Disseminata	Pruritus, Hyperkeratotic papule, Porokeratosis, Palmoplantar hyperkeratosis	ORPHA:737
Squamous Cell Carcinoma Of The Esophagus	Lymphadenopathy	ORPHA:99977
Hereditary Palmoplantar Keratoderma, Gamborg-Nielsen Type	Hyperkeratosis with erythema, Diffuse palmoplantar hyperkeratosis	ORPHA:86923
Palmoplantar Keratoderma, Punctate Type Iii	Hyperkeratosis, Acrokeratosis	OMIM:101850
Dermatoleukodystrophy	Hyperkeratosis, Thickened skin	ORPHA:1659
Congenital Panfollicular Nevus	Pruritus, Hyperkeratosis	ORPHA:139414
Pulmonary Nodular Lymphoid Hyperplasia	Mediastinal lymphadenopathy, Plasmacytosis, Follicular hyperplasia	ORPHA:60026
Ichthyosis Hystrix, Lambert Type	Hyperkeratosis, Orthokeratotic hyperkeratosis	OMIM:146600
Epidermolysis Bullosa Simplex 1C, Localized	Hyperkeratosis	OMIM:131800
Acrokeratosis Verruciformis	Hyperkeratosis, Punctate palmoplantar hyperkeratosis, Acrokeratosis	OMIM:101900
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome	Microphthalmia, Anophthalmia	ORPHA:85275
Palmoplantar Keratoderma-Deafness Syndrome	Hyperkeratosis, Palmoplantar keratoderma	ORPHA:2202
Palmoplantar Keratoderma, Nagashima Type	Orthokeratotic hyperkeratosis, Hypergranulosis, Palmoplantar hyperkeratosis	OMIM:615598
Reticulate Acropigmentation Of Kitamura	Hyperkeratosis	OMIM:615537
Ichthyosis, Congenital, Autosomal Recessive 10	Hypergranulosis, Hyperkeratosis, Orthokeratotic hyperkeratosis, Palmoplantar keratoderma, General...	OMIM:615024
Epidermolytic Hyperkeratosis 2	Palmoplantar hyperkeratosis, Hyperkeratosis, Cobblestone-like hyperkeratosis, Palmoplantar kerato...	OMIM:620150
Erythrokeratodermia Variabilis Et Progressiva 5	Hyperkeratosis, Palmoplantar hyperkeratosis	OMIM:617756
Immunodeficiency 75 With Lymphoproliferation	Hepatosplenomegaly, Decreased proportion of class-switched memory B cells, Lymphadenopathy, Folli...	OMIM:619126
Dowling-Degos Disease 2	Hyperkeratotic papule, Follicular hyperkeratosis	OMIM:615327
Hyperkeratosis Lenticularis Perstans	Hyperkeratosis lenticularis perstans	OMIM:144150
Angioma Serpiginosum, Autosomal Dominant	Hyperkeratosis	OMIM:106050
Papillomatosis, Confluent And Reticulated	Hyperkeratosis	OMIM:167900
Mantle Cell Lymphoma	Splenomegaly, Lymphadenopathy	ORPHA:52416
Ichthyosis Hystrix Of Curth-Macklin	Hyperkeratosis, Diffuse palmoplantar hyperkeratosis, Recurrent skin infections, Ichthyosis	ORPHA:79503
Aquagenic Palmoplantar Keratoderma	Edema, Atopic dermatitis, Orthokeratotic hyperkeratosis, Palmoplantar keratoderma, Palmar pruritus	ORPHA:498359
Epidermolysis Bullosa Simplex 4, Localized Or Generalized Intermediate, Autosomal Recessive	Hyperkeratosis	OMIM:615028
Chronic Hiccup	Dehydration, Weight loss	ORPHA:396
Kerion Celsi	Lymphadenopathy	ORPHA:499
Ceroid storage disease	Abnormality of the spleen	OMIM:214200
Gombo Syndrome	Microphthalmia, Delayed puberty	OMIM:233270
Epidermolysis Bullosa Dystrophica, Pretibial	Pruritus, Hyperkeratosis	OMIM:131850
Hyperkeratosis-Hyperpigmentation Syndrome	Hyperkeratosis	ORPHA:1336
Autosomal Dominant Epidermolytic Ichthyosis	Erythroderma, Weight loss, Hyperkeratosis, Congenital bullous ichthyosiform erythroderma, Palmopl...	ORPHA:312
Ichthyosis, Congenital, Autosomal Recessive 14	Pruritus, Hyperkeratosis, Orthokeratotic hyperkeratosis, Congenital nonbullous ichthyosiform eryt...	OMIM:617571
Insulin-Resistance Syndrome Type A	Hyperkeratosis	ORPHA:2297
Glycoprotein Storage Disease	Splenomegaly	OMIM:232900
Erythrokeratoderma ''En Cocardes''	Hyperkeratosis	ORPHA:315
Microphthalmia, Isolated 1	Microphthalmia, Anophthalmia	OMIM:251600
Diabetes Mellitus, Transient Neonatal, 1	Severe failure to thrive, Dehydration	OMIM:601410
Diarrhea 4, Malabsorptive, Congenital	Failure to thrive, Dehydration	OMIM:610370
Premature Ovarian Failure 12	Microphthalmia	OMIM:616947
Microphthalmia, Isolated 2	Microphthalmia	OMIM:610093
Microphthalmia, Isolated, With Coloboma 6	Hypoplasia of the fovea, Bilateral microphthalmos, Optic disc hypoplasia	OMIM:613703
Kimura Disease	Eosinophilia, Lymphadenopathy, Follicular hyperplasia	ORPHA:482
Microphthalmia, Isolated, With Cataract 1	Microphthalmia	OMIM:156850
Erythrokeratodermia Variabilis Et Progressiva 4	Congenital nonbullous ichthyosiform erythroderma, Hyperkeratosis, Palmoplantar hyperkeratosis	OMIM:617526
Verrucous Hemangioma	Inflammatory abnormality of the skin, Hyperkeratotic papule	ORPHA:464318
Ulerythema Ophryogenesis	Miscarriage, Acne, Follicular hyperkeratosis, Hyperkeratotic papule, Contact dermatitis	ORPHA:3406
Autoinflammation With Episodic Fever And Lymphadenopathy	Hepatomegaly, Microcytic anemia, Splenomegaly, Recurrent tonsillitis, Lymphadenopathy	OMIM:618852
Autosomal Recessive Generalized Epidermolysis Bullosa Simplex	Pruritus, Hyperkeratosis, Failure to thrive, Palmoplantar hyperkeratosis	ORPHA:89838
Graham Little-Piccardi-Lassueur Syndrome	Pruritus, Perifollicular hyperkeratosis	ORPHA:505
Microphthalmia, Isolated, With Coloboma 4	Microphthalmia	OMIM:251505
Combined Malonic And Methylmalonic Aciduria	Failure to thrive, Dehydration	OMIM:614265
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Hepatit...	ORPHA:444463
Mast Cell Sarcoma	Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Mastocytosis	ORPHA:66661
Parana Hard Skin Syndrome	Hyperkeratosis, Thickened skin	ORPHA:2812
Vohwinkel Syndrome, Variant Form	Parakeratosis, Hypergranulosis, Honeycomb palmoplantar hyperkeratosis, Hyperkeratosis, Orthokerat...	OMIM:604117
Acne Inversa, Familial, 2, With Or Without Dowling-Degos Disease	Recurrent cutaneous abscess formation, Perifolliculitis, Chronic furunculosis, Follicular hyperke...	OMIM:613736
Adenocarcinoma Of The Esophagus	Lymphadenopathy	ORPHA:99976
Anonychia With Flexural Pigmentation	Hyperkeratosis, Follicular hyperkeratosis	ORPHA:69125
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells	Hypersplenism, Splenomegaly, Pancytopenia, Decreased helper T cell proportion	OMIM:183350
Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis	Death in infancy, Dehydration	OMIM:251850
Erythrokeratodermia Variabilis Et Progressiva 6	Pruritus, Parakeratosis, Superficial dermal perivascular inflammatory infiltrate	OMIM:618531
Congenital Varicella Syndrome	Microphthalmia, Intrauterine growth retardation	ORPHA:291
White Sponge Nevus 2	Hyperparakeratosis, Edema	OMIM:615785
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3	Microphthalmia	OMIM:616335
Lymphatic Malformation 4	Hyperkeratosis, Pedal edema, Lymphedema	OMIM:615907
Immunodeficiency 104	Hepatomegaly, Splenomegaly, T lymphocytopenia, Lymphadenopathy	OMIM:608971
Microphthalmia, Isolated, With Coloboma 7	Microphthalmia	OMIM:614497
Immunodeficiency 32A	Lymphadenitis, Lymphadenopathy	OMIM:614893
Harlequin Ichthyosis	Erythroderma, Dehydration, Hyperkeratosis, Congenital ichthyosiform erythroderma, Ichthyosis	ORPHA:457
Acquired Ichthyosis	Recurrent skin infections, Pruritus, Hyperkeratosis, Palmoplantar keratoderma, Ichthyosis	ORPHA:454
Erythrokeratodermia Variabilis Et Progressiva 1	Generalized hyperkeratosis, Patchy palmoplantar hyperkeratosis, Hypergranulosis, Erythroderma	OMIM:133200
Alpha-Methylacetoacetic Aciduria	Dehydration	OMIM:203750
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Intermediate Form	Pruritus, Hyperkeratosis, Plantar hyperkeratosis, Palmar hyperkeratosis	ORPHA:79399
Moynahan Syndrome	Hyperkeratosis, Cachexia	ORPHA:2574
Lymphatic Malformation 12	Nonimmune hydrops fetalis, Fetal ascites, Polyhydramnios, Lymphedema, Death in adolescence, Hyper...	OMIM:620014
Microphthalmia, Isolated, With Coloboma 3	Microphthalmia	OMIM:610092
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies	Microphthalmia	OMIM:251700
Fanconi Anemia, Complementation Group J	Postnatal growth retardation, Microphthalmia, Intrauterine growth retardation	OMIM:609054
Deafness, Autosomal Dominant 34, With Or Without Inflammation	Lymphadenopathy	OMIM:617772
Keratosis Linearis With Ichthyosis Congenita And Sclerosing Keratoderma	Parakeratosis, Linear arrays of macular hyperkeratoses in flexural areas, Honeycomb palmoplantar ...	OMIM:601952
Intellectual Developmental Disorder, Fra12A Type	Hyperkeratosis, Erythroderma	OMIM:136630
Epidermolytic Palmoplantar Keratoderma	Hypergranulosis, Epidermal hyperkeratosis, Diffuse palmoplantar hyperkeratosis, Palmoplantar hype...	ORPHA:2199
Lymphoproliferative Syndrome 3	Hepatosplenomegaly, Reduced natural killer cell count, Lymphadenopathy	OMIM:618261
Familial Reactive Perforating Collagenosis	Perifolliculitis, Inflammatory abnormality of the skin, Maculopapular exanthema, Pruritus, Crusti...	ORPHA:79147
Immunodeficiency 76	Splenomegaly, Lymphadenopathy, T lymphocytopenia, B lymphocytopenia, Lymphopenia	OMIM:619164
Lamellar Ichthyosis	Pruritus, Erythroderma, Dehydration, Hyperkeratosis, Ichthyosis	ORPHA:313
Inflammatory Skin And Bowel Disease, Neonatal, 2	Pustule, Failure to thrive, Polyhydramnios, Dehydration	OMIM:616069
Microphthalmia, Isolated, With Coloboma 5	Microphthalmia, Anophthalmia, Bilateral microphthalmos	OMIM:611638
Reticular Dysgenesis	Failure to thrive, Skin rash, Dehydration, Weight loss	ORPHA:33355
Microphthalmia, Isolated, With Coloboma 10	Microphthalmia, Anophthalmia	OMIM:616428
Trichothiodystrophy 7, Nonphotosensitive	Congenital nonbullous ichthyosiform erythroderma, Follicular hyperkeratosis, Ichthyosis	OMIM:618546
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias	Decreased proportion of CD4+CD25+ regulatory T cells, Autoimmune thrombocytopenia, Follicular hyp...	OMIM:619846
Lactase Deficiency, Congenital	Dehydration	OMIM:223000
Focal Palmoplantar And Gingival Keratoderma	Subungual hyperkeratosis, Focal friction-related palmoplantar hyperkeratosis, Gingival hyperkerat...	ORPHA:2200
Bazex Syndrome	Parakeratosis, Edema, Pruritus, Hyperkeratosis, Palmoplantar keratoderma, Acanthosis nigricans	ORPHA:166113
Infantile Digital Fibromatosis	Hyperkeratosis, Parakeratosis	ORPHA:199267
Keratoderma Hereditarium Mutilans With Ichthyosis	Parakeratosis, Hypergranulosis, Honeycomb palmoplantar hyperkeratosis, Palmoplantar hyperkeratosi...	ORPHA:79395
Nodular Lymphocyte Predominant Hodgkin Lymphoma	Hepatomegaly, Splenomegaly, Lymphadenopathy	ORPHA:86893
Follicular Lymphoma	Abnormal peritoneum morphology, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy	ORPHA:545
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant	Splenomegaly, Decreased proportion of class-switched memory B cells, Lymphadenopathy, T lymphocyt...	OMIM:615513
Microphthalmia, Isolated 4	Microphthalmia	OMIM:613094
Angioma Serpiginosum, X-Linked	Hyperkeratosis	OMIM:300652
Ichthyosis, Congenital, Autosomal Recessive 8	Orthokeratosis, Hyperkeratosis, Hypergranulosis, Ichthyosis	OMIM:613943
Central Diabetes Insipidus	Failure to thrive, Dehydration, Weight loss	ORPHA:178029
Self-Improving Collodion Baby	Ichthyosis	ORPHA:281122
Immunodeficiency 78 With Autoimmunity And Developmental Delay	Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Fluctuating splenomegaly, Neutropenia i...	OMIM:619220
Nanophthalmos 4	Microphthalmia	OMIM:615972
Burkitt Lymphoma	Abnormality of the spleen, Abnormality of the pancreas, Abnormal lymph node morphology, Abnormali...	ORPHA:543
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome	Weight loss, Ascites, Palmoplantar keratoderma	ORPHA:2198
Immunodeficiency 52	Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Increase...	OMIM:617514
Nanophthalmos	Microphthalmia	ORPHA:35612
Palmoplantar Keratoderma And Congenital Alopecia 2	Hyperkeratosis, Sclerodactyly, Palmoplantar hyperkeratosis	OMIM:212360
Olmsted Syndrome, X-Linked	Subungual hyperkeratosis, Parakeratosis, Palmoplantar hyperkeratosis, Hyperkeratosis, Palmoplanta...	OMIM:300918
Vitamin B12-Responsive Methylmalonic Acidemia	Failure to thrive, Dehydration	ORPHA:28
Ichthyosis, Hystrix-Like, With Deafness	Erythroderma, Palmoplantar hyperkeratosis, Hyperkeratosis, Palmoplantar keratoderma, Cobblestone-...	OMIM:602540
Microphthalmia, Syndromic 16	Microphthalmia, Anophthalmia	OMIM:611038
Mu-Heavy Chain Disease	Hepatomegaly, Abnormal B cell count, Splenomegaly, Lymphadenopathy, Anemia	ORPHA:100024
Pityriasis Rubra Pilaris	Subungual hyperkeratosis, Parakeratosis, Hypergranulosis, Palmoplantar keratoderma, Orthokeratosis	OMIM:173200
Corticosterone Methyloxidase Type Ii Deficiency	Failure to thrive, Increased circulating corticosterone level, Increased circulating 18-hydroxyco...	OMIM:610600
Congenital Enterocyte Heparan Sulfate Deficiency	Weight loss, Edema, Dehydration	ORPHA:103910
Porokeratosis 7, Multiple Types	Parakeratosis, Porokeratosis	OMIM:614714
Porokeratosis 1, Multiple Types	Parakeratosis, Porokeratosis	OMIM:175800
Generalized Eruptive Histiocytosis	Histiocytosis, Leukemia, Hypereosinophilia, Lymphadenopathy	ORPHA:157991
Pruritic Urticarial Papules And Plaques Of Pregnancy	Parakeratosis, Pruritus, Pruritis on abdomen, Pruritus on foot, Increased body weight, Pruritis o...	ORPHA:64745
Chilblain Lupus	Inflammatory abnormality of the skin, Skin rash, Discoid lupus rash, Hyperkeratosis, Pruritis on ...	ORPHA:90280
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia	Cervical lymphadenopathy, B lymphocytopenia, Abnormally low T cell receptor excision circle level	OMIM:618987
Transient Neonatal Diabetes Mellitus	Failure to thrive, Small for gestational age, Dehydration	ORPHA:99886
Olmsted Syndrome 2	Parakeratosis, Pruritus, Perioral hyperkeratosis, Palmoplantar hyperkeratosis, Hyperkeratosis, Pa...	OMIM:619208
Hypercarotenemia And Vitamin A Deficiency, Autosomal Recessive	Follicular hyperkeratosis	OMIM:277350
Pityriasis Rubra Pilaris	Subungual hyperkeratosis, Eczema, Pruritus, Pustule, Thickened skin, Ichthyosis, Palmoplantar ker...	ORPHA:2897
Cerebrooculofacioskeletal Syndrome 3	Microphthalmia, Intrauterine growth retardation	OMIM:616570
Hemophagocytic Lymphohistiocytosis, Familial, 4	Hepatomegaly, Splenomegaly, Thrombocytopenia, Jaundice, Lymphadenopathy, Hemophagocytosis, Neutro...	OMIM:603552
Fish-Eye Disease	Hepatomegaly, Splenomegaly, Lymphadenopathy	ORPHA:79292
Ichthyosis, Congenital, Autosomal Recessive 6	Parakeratosis, Hyperkeratosis, Palmoplantar keratoderma, Generalized ichthyosis, Congenital nonbu...	OMIM:612281
Hypercalcemia, Infantile, 1	Failure to thrive, Dehydration, Weight loss	OMIM:143880
Palmoplantar Keratoderma, Epidermolytic, 1	Localized epidermolytic hyperkeratosis, Plantar hyperkeratosis, Palmoplantar hyperkeratosis, Palm...	OMIM:144200
Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency	Neonatal death, Dehydration	OMIM:602199
Atrophoderma Vermiculata	Pruritus, Hyperkeratotic papule, Follicular hyperkeratosis	ORPHA:79100
Alpha-Heavy Chain Disease	Hepatomegaly, Splenomegaly, Anemia, Lymphadenopathy	ORPHA:100025
Immunodeficiency 27B	Generalized lymphadenopathy	OMIM:615978
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation	Increased proportion of memory T cells, Hepatosplenomegaly, Increased B cell count, Lymphadenopathy	OMIM:618982
Psoriasis 2	Hyperkeratosis, Parakeratosis, Psoriasiform dermatitis	OMIM:602723
Isobutyryl-Coa Dehydrogenase Deficiency	Dehydration	ORPHA:79159
Asplenia, Isolated Congenital	Asplenia, Thrombocytosis, Howell-Jolly bodies	OMIM:271400
Peeling Skin Syndrome 5	Hyperkeratosis	OMIM:617115
Immunodeficiency With Hyper-Igm, Type 5	Lymphadenopathy	OMIM:608106
Fryns Microphthalmia Syndrome	Microphthalmia, Anophthalmia, Neural tube defect	OMIM:600776
Cole Disease	Hypergranulosis, Punctate palmoplantar hyperkeratosis, Hyperkeratosis, Palmoplantar keratoderma, ...	OMIM:615522
Ichthyosis, Congenital, Autosomal Recessive 9	Hypergranulosis, Hyperkeratosis, Congenital nonbullous ichthyosiform erythroderma, Erythroderma, ...	OMIM:615023
Immunodeficiency 103, Susceptibility To Fungal Infections	Abnormal B cell count, Hypereosinophilia, Lymphadenopathy, Abnormal proportion of CD8-positive T ...	OMIM:212050
Palmoplantar Keratoderma, Punctate Type Ia	Orthokeratosis, Punctate palmoplantar hyperkeratosis, Hypergranulosis	OMIM:148600
Cataract 11, Multiple Types	Microphthalmia	OMIM:610623
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome	Microphthalmia	ORPHA:1574
Classic Mycosis Fungoides	Skin rash, Eczema, Edema, Pruritus, Hyperkeratosis	ORPHA:2584
Peeling Skin Syndrome 4	Orthokeratosis, Hyperkeratosis, Palmoplantar keratoderma, Ichthyosis	OMIM:607936
Ichthyosis Prematurity Syndrome	Polyhydramnios, Pruritus, Generalized ichthyosis, Follicular hyperkeratosis, Erythroderma	OMIM:608649
Erythrokeratodermia Variabilis Et Progressiva 3	Orthokeratosis, Hyperkeratosis, Palmoplantar keratoderma, Hypergranulosis	OMIM:617525
Peeling Skin Syndrome 6	Pruritus, Parakeratosis, Orthokeratosis, Atopic dermatitis	OMIM:618084
Granulomatous Slack Skin	Abnormal lymph node morphology	ORPHA:33111
Lipoid Proteinosis Of Urbach And Wiethe	Hyperkeratosis, Thickened skin	OMIM:247100
Combined Malonic And Methylmalonic Acidemia	Failure to thrive, Dehydration	ORPHA:289504
Ras-Associated Autoimmune Leukoproliferative Disorder	Hepatomegaly, Pancytopenia, Hemolytic anemia, Follicular hyperplasia, Autoimmune thrombocytopenia...	OMIM:614470
Immunodeficiency With Hyper-Igm, Type 4	Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Absence of lymph node germinal center	OMIM:608184
Palmoplantar Keratoderma I, Striate, Focal, Or Diffuse	Hypergranulosis, Palmoplantar hyperkeratosis, Orthokeratotic hyperkeratosis, Palmoplantar keratod...	OMIM:148700
Erythrokeratodermia Variabilis	Hyperkeratosis, Skin rash, Patchy palmoplantar hyperkeratosis, Weight loss	ORPHA:317
Rosaï-Dorfman Disease	Anemia, Lymphadenopathy	ORPHA:158014
Hyperkeratosis Lenticularis Perstans	Pruritus, Hyperkeratosis lenticularis perstans	ORPHA:409
Congenital Primary Aphakia	Microphthalmia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Congenital aphakia	ORPHA:83461
Microcephaly-Microcornea Syndrome, Seemanova Type	Growth delay, Microphthalmia, Short stature	ORPHA:2528
Immunodeficiency 105	Impaired lymphocyte transformation with phytohemagglutinin, Pancytopenia, Absence of lymph node g...	OMIM:619924
Porokeratosis 3, Multiple Types	Parakeratosis, Porokeratosis	OMIM:175900
Seborrhea-Like Dermatitis With Psoriasiform Elements	Hyperkeratosis, Seborrheic dermatitis	OMIM:610227
Pulmonary Blastoma	Weight loss	ORPHA:64741
Immunodeficiency With Hyper-Igm, Type 3	Neutropenia, Absence of lymph node germinal center	OMIM:606843
Leukocyte Adhesion Deficiency, Type Iii	Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Leukocytosis, Abnormal lymph node morph...	OMIM:612840
Generalized Pseudohypoaldosteronism Type 1	Failure to thrive in infancy, Pustule, Glucocortocoid-insensitive primary hyperaldosteronism, Ato...	ORPHA:171876
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Splenomegaly, Lymphadenopathy, Hepatosplenomegaly, Anemia, Hemophagocytosis, Thrombocytopenia	OMIM:613101
Congenital Short Bowel Syndrome	Failure to thrive, Dehydration, Steatorrhea	OMIM:615237
Netherton Syndrome	Hypernatremic dehydration, Parakeratosis, Recurrent skin infections, Eczema, Angioedema, Congenit...	OMIM:256500
Recessive X-Linked Ichthyosis	Hyperkeratosis, Ichthyosis	ORPHA:461
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive	Failure to thrive, Hyperaldosteronism, Dehydration	OMIM:264350
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia	Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Mediasti...	OMIM:300853
Combined Oxidative Phosphorylation Deficiency 47	Failure to thrive, Dehydration	OMIM:618958
Ichthyosis Hystrix, Curth-Macklin Type	Hyperkeratotic papule, Palmoplantar keratoderma	OMIM:146590
Pemphigus Vulgaris	Recurrent cutaneous abscess formation, Weight loss, Acantholysis	ORPHA:704
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia	Chronic noninfectious lymphadenopathy, Abnormal lymph node morphology	ORPHA:97290
Pfapa Syndrome	Hepatomegaly, Splenomegaly, Lymphadenopathy	ORPHA:42642
Immunodeficiency 64 With Lymphoproliferation	Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos...	OMIM:618534
Ichthyosis, Annular Epidermolytic, 2	Orthokeratosis, Palmoplantar keratoderma, Palmoplantar hyperkeratosis, Ichthyosis	OMIM:620148
Immunodeficiency With Hyper-Igm, Type 2	Lymphadenopathy	OMIM:605258
Ichthyosis, Congenital, Autosomal Recessive 5	Parakeratosis, Palmoplantar keratoderma, Congenital nonbullous ichthyosiform erythroderma, Erythr...	OMIM:604777
Methylmalonyl-Coa Epimerase Deficiency	Failure to thrive, Dehydration	OMIM:251120
Macrosomia-Microphthalmia-Cleft Palate Syndrome	Microphthalmia	ORPHA:2432
Intestinal Dysmotility Syndrome	Failure to thrive, Polyhydramnios, Weight loss	OMIM:620045
Olmsted Syndrome 1	Subungual hyperkeratosis, Parakeratosis, Pruritus, Hyperparakeratosis, Periorificial hyperkeratos...	OMIM:614594
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis	Parakeratosis, Pruritus, Hyperkeratosis, Palmoplantar keratoderma, Ichthyosis	OMIM:615821
Hyperchlorhidrosis, Isolated	Hypernatremic dehydration, Failure to thrive	OMIM:143860
Early-Onset Familial Hypoaldosteronism	Failure to thrive, Elevated serum 11-deoxycortisol, Abnormal circulating corticosterone level, De...	ORPHA:556030
Xeroderma Pigmentosum, Complementation Group G	Growth delay, Microphthalmia	OMIM:278780
Familial Papillary Or Follicular Thyroid Carcinoma	Chronic noninfectious lymphadenopathy, Abnormal lymph node morphology	ORPHA:319487
Dystrophic Epidermolysis Bullosa Pruriginosa	Pruritus, Hyperkeratosis	ORPHA:89843
Meige Disease	Recurrent bacterial skin infections, Predominantly lower limb lymphedema, Recurrent skin infectio...	ORPHA:90186
Netherton Syndrome	Skin rash, Eczema, Dehydration, Ichthyosis, Congenital nonbullous ichthyosiform erythroderma, Ery...	ORPHA:634
Biemond Syndrome Type 2	Microphthalmia, Short stature, Delayed puberty	ORPHA:141333
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss	Failure to thrive, Dehydration	OMIM:602722
Ichthyosis, Annular Epidermolytic, 1	Hyperparakeratosis, Palmoplantar hyperkeratosis, Ichthyosis, Congenital bullous ichthyosiform ery...	OMIM:607602
Tuberculosis	Weight loss	ORPHA:3389
Pseudohypoaldosteronism, Type I, Autosomal Dominant	Failure to thrive, Hyperaldosteronism, Dehydration	OMIM:177735
Ectodermal Dysplasia-Syndactyly Syndrome 2	Palmoplantar keratoderma, Follicular hyperkeratosis, Congenital bullous ichthyosiform erythroderma	OMIM:613576
Ichthyosis, Congenital, Autosomal Recessive 1	Parakeratosis, Erythroderma, Palmoplantar hyperkeratosis, Congenital ichthyosiform erythroderma, ...	OMIM:242300
Tylosis With Esophageal Cancer	Diffuse palmoplantar hyperkeratosis, Parakeratosis, Follicular hyperkeratosis	OMIM:148500
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Hepatomegaly, Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia, Splenomegaly, Lym...	OMIM:602450
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia	Failure to thrive, Death in adolescence, Dehydration, Death in childhood	OMIM:560000
Hypotrichosis 6	Pruritus, Follicular hyperkeratosis	OMIM:607903
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency	Hepatomegaly, Decreased proportion of marginal zone B cells, Autoimmune thrombocytopenia, Splenom...	OMIM:619375
Immunodeficiency 27A	Splenomegaly, Leukocytosis, Enlarged mesenteric lymph node, Lymphadenopathy, Hepatosplenomegaly, ...	OMIM:209950
Immunodeficiency 109 With Lymphoproliferation	Splenomegaly, Pancytopenia, Generalized lymphadenopathy, Absent circulating B cells	OMIM:620282
Acrokeratoelastoidosis Of Costa	Orthokeratosis, Hyperkeratotic papule, Hypergranulosis, Palmoplantar hyperkeratosis	ORPHA:38
Infantile Cataract, Skin Abnormalities, Glutamate Excess, And Impaired Intellectual Development	Hyperkeratosis, Parakeratosis	OMIM:618339
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Abnormal CD4:CD8 ratio, Splenomegaly, Neutropenia, Lymphadenopathy, B lymphocytopenia, Intermitte...	OMIM:150550
Mycosis Fungoides	Lymphadenopathy	OMIM:254400
Cerebrooculofacioskeletal Syndrome 1	Failure to thrive, Small for gestational age, Dehydration, Death in childhood	OMIM:214150
Glucose/Galactose Malabsorption	Failure to thrive, Hypertonic dehydration	OMIM:606824
Keratoderma Hereditarium Mutilans	Hyperkeratosis, Honeycomb palmoplantar hyperkeratosis, Ichthyosis	ORPHA:494
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, Decreased CD4:CD8 ratio	OMIM:618495
Milroy Disease	Predominantly lower limb lymphedema, Lymphedema, Pedal edema, Hyperkeratosis, Erysipelas	ORPHA:79452
Laryngeal Neuroendocrine Tumor	Chronic noninfectious lymphadenopathy	ORPHA:100083
Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome	Comedonal acne, Follicular hyperkeratosis	OMIM:615147
Indolent Systemic Mastocytosis	Hepatomegaly, Splenomegaly, Lymphadenopathy, Increased proportion of CD25+ mast cells, Mastocytos...	ORPHA:98848
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive	Hyperaldosteronism, Dehydration	OMIM:620126
Familial Cold Autoinflammatory Syndrome 2	Splenomegaly, Leukocytosis, Lymphadenopathy	OMIM:611762
Familial Cold Urticaria	Pruritus, Dehydration	ORPHA:47045
Lichen Planus Pemphigoides	Pruritus, Hyperkeratosis	ORPHA:254478
Microphthalmia, Isolated 6	Microphthalmia	OMIM:613517
Adams-Oliver Syndrome 4	Microphthalmia, Umbilical hernia	OMIM:615297
Cold Agglutinin Disease	Hepatomegaly, Splenomegaly, Hemolytic anemia, Lymphadenopathy	ORPHA:56425
Arthrogryposis, Renal Dysfunction, And Cholestasis 1	Death in infancy, Small for gestational age, Dehydration, Ichthyosis, Failure to thrive, Oligohyd...	OMIM:208085
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive	Hyperaldosteronism, Dehydration	OMIM:620125
Acrokeratosis Verruciformis Of Hopf	Parakeratosis, Hypergranulosis, Acantholysis, Punctate palmoplantar hyperkeratosis, Hyperkeratosis	ORPHA:79151
Neuropathy, Hereditary Sensory, Type If	Hyperkeratosis	OMIM:615632
Autoimmune Lymphoproliferative Syndrome, Type Iii	Increased proportion autoreactive unresponsive CD21-/low B cells, Hepatomegaly, Autoimmune hemoly...	OMIM:615559
Immunodeficiency, Common Variable, 2	Hepatomegaly, Splenomegaly, Follicular hyperplasia, Lymphadenopathy	OMIM:240500
Corticosterone Methyloxidase Type I Deficiency	Failure to thrive, Dehydration	OMIM:203400
Klatskin Tumor	Hepatomegaly, Cholangiocarcinoma, Jaundice, Extrahepatic cholestasis, Lymphadenopathy	ORPHA:99978
Schnitzler Syndrome	Hepatomegaly, Splenomegaly, Leukocytosis, Lymphadenopathy, Anemia	ORPHA:37748
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Failure to thrive, Dehydration	ORPHA:79312
Mednik Syndrome	Hyperkeratosis, Ichthyosis	ORPHA:171851
Facial Clefting, Oblique, 1	Microphthalmia	OMIM:600251
Elastosis Perforans Serpiginosa	Hyperkeratotic papule, Crusting erythematous dermatitis	ORPHA:79148
Craniotelencephalic Dysplasia	Microphthalmia, Frontal encephalocele, Optic nerve hypoplasia	OMIM:218670
Ichthyosis, Congenital, Autosomal Recessive 3	Hyperkeratosis, Palmoplantar keratoderma, Congenital nonbullous ichthyosiform erythroderma, Ichth...	OMIM:606545
Ramon Syndrome	Hyperkeratosis, Failure to thrive	ORPHA:3019
Immunodeficiency 7	Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Hypereosinophilia, Lymphadenopathy, Neut...	OMIM:615387
Congenital Disorder Of Glycosylation, Type Im	Death in infancy, Inflammatory abnormality of the skin, Increased circulating free fatty acid lev...	OMIM:610768
Fanconi Anemia, Complementation Group G	Growth delay, Microphthalmia	OMIM:614082
Foveal Hypoplasia 2	Hypoplasia of the fovea, Microphthalmia	OMIM:609218
Pseudomyxoma Peritonei	Abnormal peritoneum morphology, Lymphadenopathy	ORPHA:26790
Cat-Eye Syndrome	Microphthalmia, Short stature, Intrauterine growth retardation	ORPHA:195
Glucose-Galactose Malabsorption	Failure to thrive, Dehydration, Weight loss	ORPHA:35710
Corticosteroid-Sensitive Aseptic Abscess Syndrome	Neutrophilia, Liver abscess, Abnormality of the pancreas, Abnormality of the lymphatic system, Ab...	ORPHA:54251
Microphthalmia, Isolated, With Corectopia	Microphthalmia	OMIM:156900
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis	Microphthalmia, Short stature	OMIM:610023
Enteric Anendocrinosis	Dehydration	ORPHA:83620
Autosomal Agammaglobulinemia	Recurrent skin infections, Failure to thrive, Skin rash, Dehydration	ORPHA:33110
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2	Microphthalmia, Short stature, Intrauterine growth retardation	OMIM:616171
Flynn-Aird Syndrome	Hyperkeratosis	OMIM:136300
Dihydropyrimidine Dehydrogenase Deficiency	Growth delay, Microphthalmia	OMIM:274270
Microphthalmia, Syndromic 13	Microphthalmia, Short stature	OMIM:300915
Rothmund-Thomson Syndrome, Type 1	Hyperkeratosis	OMIM:618625
Noonan Syndrome 8	Eczema, Polyhydramnios, Large for gestational age, Hyperkeratosis, Pleural effusion, Failure to t...	OMIM:615355
Caspase 8 Deficiency	Splenomegaly, Decreased CD4:CD8 ratio, Lymphadenopathy	OMIM:607271
Darier Disease	Acrokeratosis, Pruritus, Thickened skin, Palmoplantar keratoderma, Subungual hyperkeratotic fragm...	ORPHA:218
Irida Syndrome	Hyperkeratosis, Ichthyosis	ORPHA:209981
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency	Absence of lymph node germinal center, T lymphocytopenia, B lymphocytopenia, Lymphopenia, Absent ...	ORPHA:277
Congenital Tufting Enteropathy	Weight loss, Failure to thrive, Dehydration, Steatorrhea	ORPHA:92050
Griscelli Syndrome Type 2	Hepatomegaly, Pancytopenia, Splenomegaly, Jaundice, Lymphadenopathy, Hemophagocytosis, Neutropenia	ORPHA:79477
Secondary Short Bowel Syndrome	Weight loss, Failure to thrive, Dehydration, Steatorrhea	ORPHA:95427
Mmep Syndrome	Microphthalmia	ORPHA:3434
Insulin Autoimmune Syndrome	Acanthosis nigricans, Weight loss	ORPHA:411593
Bathing Suit Ichthyosis	Parakeratosis, Thickened skin, Erythroderma, Palmoplantar hyperkeratosis, Congenital nonbullous i...	ORPHA:100976
Immunodeficiency, Common Variable, 1	Hepatomegaly, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, Decreased propo...	OMIM:607594
Idiopathic Achalasia	Weight loss	ORPHA:930
Vulvovaginal Gingival Syndrome	Pruritus, Parakeratosis	ORPHA:83453
Adrenal Hypoplasia, Congenital	Decreased circulating cortisol level, Failure to thrive, Dehydration	OMIM:300200
Superficial Epidermolytic Ichthyosis	Ichthyosis, Palmoplantar keratoderma, Edema, Acantholysis	ORPHA:455
Cofs Syndrome	Microphthalmia, Short stature, Intrauterine growth retardation	ORPHA:1466
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige	Psoriasiform dermatitis, Recurrent skin infections, Hypergranulosis, Acantholysis, Erythroderma, ...	OMIM:615508
Autoimmune Lymphoproliferative Syndrome	Hepatomegaly, Autoimmune hemolytic anemia, Chronic noninfectious lymphadenopathy, Eosinophilia, F...	OMIM:601859
Carnitine Deficiency, Systemic Primary	Failure to thrive, Dehydration	OMIM:212140
Microphthalmia, Isolated 8	Microphthalmia, Anophthalmia, Optic nerve hypoplasia, True anophthalmia	OMIM:615113
Pleural Mesothelioma	Hepatomegaly, Lymphadenopathy	ORPHA:50251
Chromomycosis	Predominantly lower limb lymphedema, Edema, Lymphedema, Pruritus, Hyperparakeratosis, Hyperkerato...	ORPHA:182
Immunodeficiency 54	Hepatomegaly, Splenomegaly, Reduced natural killer cell count, Lymphadenopathy	OMIM:609981
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development	Microphthalmia	OMIM:120433
Craniotelencephalic Dysplasia	Microphthalmia, Septo-optic dysplasia, Frontal encephalocele	ORPHA:1528
Activated Pi3K-Delta Syndrome	Hepatomegaly, Splenomegaly, Recurrent tonsillitis, Lymphadenopathy, B lymphocytopenia	ORPHA:397596
Lymphoproliferative Syndrome 2	Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Lymphadenopathy, Hepatosplenomegaly, H...	OMIM:615122
Isolated Congenital Hypoglossia/Aglossia	Weight loss	ORPHA:141152
Ichthyosis, Congenital, Autosomal Recessive 4B	Neonatal death, Death in infancy, Congenital ichthyosiform erythroderma, Failure to thrive	OMIM:242500
Hypotrichosis Simplex Of The Scalp	Pruritus, Hyperkeratosis, Parakeratosis, Atopic dermatitis	ORPHA:90368
Diarrhea 1, Secretory Chloride, Congenital	Failure to thrive, Hyperaldosteronism, Polyhydramnios, Dehydration	OMIM:214700
Pachyonychia Congenita 1	Follicular hyperkeratosis, Palmoplantar hyperkeratosis	OMIM:167200
Sjögren-Larsson Syndrome	Hyperkeratosis, Ichthyosis	ORPHA:816
Alpha-N-Acetylgalactosaminidase Deficiency Type 1	Hyperkeratosis, Lymphedema	ORPHA:79279
Propionic Acidemia	Failure to thrive, Eczema, Dehydration	OMIM:606054
Congenital Disorder Of Glycosylation, Type Iq	Hyperkeratosis, Failure to thrive, Eczema, Ichthyosis	OMIM:612379
Ichthyosis, Spastic Quadriplegia, And Impaired Intellectual Development	Death in childhood, Hyperkeratosis, Congenital nonbullous ichthyosiform erythroderma, Ichthyosis	OMIM:614457
Classic Hodgkin Lymphoma	Hepatomegaly, Splenomegaly, Bone marrow hypocellularity, Lymphadenopathy	ORPHA:391
Isovaleric Acidemia	Dehydration	OMIM:243500
Knuckle Pads-Leukonychia-Sensorineural Deafness-Palmoplantar Hyperkeratosis Syndrome	Hyperkeratotic papule, Palmoplantar keratoderma, Palmoplantar hyperkeratosis	ORPHA:2698
Congenital Toxoplasmosis	Hepatomegaly, Jaundice, Lymphadenopathy, Anemia, Thrombocytopenia	ORPHA:858
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8	Microphthalmia	OMIM:614830
Heme Oxygenase 1 Deficiency	Hemolytic anemia, Hepatomegaly, Asplenia, Cervical lymphadenopathy, Lymphadenopathy, Coombs-posit...	OMIM:614034
Congenital Disorder Of Glycosylation, Type If	Hyperkeratosis, Failure to thrive, Death in infancy, Erythroderma	OMIM:609180
Hyperpigmentation With Or Without Hypopigmentation, Familial Progressive	Hyperkeratosis	OMIM:145250
Proteus Syndrome	Hyperkeratosis	OMIM:176920
Familial Benign Chronic Pemphigus	Hyperkeratosis, Acantholysis	ORPHA:2841
Lichen Planopilaris	Pruritus, Hyperkeratosis	ORPHA:525
Leishmaniasis	Hepatomegaly, Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Thrombocytopenia, Lymph...	ORPHA:507
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Impaired lymphocyte transformation with phytohemagglutinin, T lymphocytopenia, B lymphocytopenia,...	OMIM:619313
Peeling Skin With Leukonychia, Acral Punctate Keratoses, Cheilitis, And Knuckle Pads	Acantholysis, Pruritus, Punctate palmoplantar hyperkeratosis, Hyperkeratosis, Follicular hyperker...	OMIM:616295
Systemic-Onset Juvenile Idiopathic Arthritis	Hepatomegaly, Splenomegaly, Lymphadenopathy	ORPHA:85414
2Q24 Microdeletion Syndrome	Growth delay, Microphthalmia	ORPHA:1617
Lipoid Proteinosis	Pustule, Thickened skin, Hyperkeratosis, Acne	ORPHA:530
Proteasome-Associated Autoinflammatory Syndrome 4	Hepatomegaly, Splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy	OMIM:619183
Immunodeficiency 10	Autoimmune hemolytic anemia, Thrombocytopenia, Lymphadenopathy	OMIM:612783
Middle Ear Neuroendocrine Tumor	Chronic noninfectious lymphadenopathy	ORPHA:100084
Palmoplantar Keratoderma And Congenital Alopecia 1	Plantar hyperkeratosis, Palmoplantar keratoderma, Epidermal hyperkeratosis	OMIM:104100
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features	Parakeratosis, Xerostomia, Hyperkeratosis, Ichthyosis, Acanthosis nigricans	OMIM:618527
Immunodeficiency 98 With Autoinflammation, X-Linked	Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, B lymphocytopenia, Bone...	OMIM:301078
Epidermolysis Bullosa Simplex With Circinate Migratory Erythema	Pruritus, Parakeratosis, Palmoplantar hyperkeratosis	ORPHA:158681
Deafness-Lymphedema-Leukemia Syndrome	Hepatomegaly, Abnormal neutrophil count, Splenomegaly, Leukocytosis, Lymphadenopathy, Acute leuke...	ORPHA:3226
Nephroblastoma	Neoplasm of the liver, Lymphadenopathy	ORPHA:654
Autoimmune Lymphoproliferative Syndrome, Type Iia	Hepatomegaly, Autoimmune hemolytic anemia, Chronic noninfectious lymphadenopathy, Eosinophilia, F...	OMIM:603909
Lymphoproliferative Syndrome 1	Hepatomegaly, Pancytopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegal...	OMIM:613011
Lymphoproliferative Syndrome, X-Linked, 1	Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Fulminant hepatitis, Lymphadenopathy, ...	OMIM:308240
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Fkbp22 Deficiency	Follicular hyperkeratosis	ORPHA:300179
Hartsfield Syndrome	Encephalocele, Microphthalmia, Intrauterine growth retardation	ORPHA:2117
Ichthyosis, Congenital, Autosomal Recessive 11	Pruritus, Hyperkeratosis, Congenital ichthyosiform erythroderma	OMIM:602400
Cinca Syndrome	Eosinophilia, Leukocytosis, Lymphadenopathy, Hepatosplenomegaly, Anemia	OMIM:607115
Gamma-Heavy Chain Disease	Hepatomegaly, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Thrombocyto...	ORPHA:100026
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome	Microphthalmia, Occipital encephalocele	ORPHA:324416
Cardiofaciocutaneous Syndrome 3	Hyperkeratosis, Failure to thrive	OMIM:615279
Ichthyosis, Congenital, Autosomal Recessive 2	Hypergranulosis, Hyperkeratosis, Congenital ichthyosiform erythroderma, Palmoplantar keratoderma,...	OMIM:242100
Vitamin B12-Unresponsive Methylmalonic Acidemia	Dehydration	ORPHA:27
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma	Microphthalmia	OMIM:267760
Cataract 9, Multiple Types	Microphthalmia	OMIM:604219
Hidrotic Ectodermal Dysplasia	Thickened skin, Palmoplantar hyperkeratosis, Cobblestone-like hyperkeratosis, Palmoplantar kerato...	ORPHA:189
Primary Myelofibrosis	Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Portal hypertension, Splenomegaly, Leuk...	ORPHA:824
Joubert Syndrome 22	Microphthalmia, Intrauterine growth retardation	OMIM:615665
Desmoplastic Small Round Cell Tumor	Abnormal peritoneum morphology, Hepatomegaly, Neoplasm of the pancreas, Mediastinal lymphadenopat...	ORPHA:83469
Huntington Disease-Like 2	Weight loss	ORPHA:98934
Undifferentiated Pleomorphic Sarcoma	Weight loss	ORPHA:2023
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Failure to thrive, Dehydration	OMIM:251000
Cryptophthalmos, Unilateral Or Bilateral, Isolated	Microphthalmia	OMIM:123570
Schopf-Schulz-Passarge Syndrome	Hyperkeratosis, Palmoplantar keratoderma	OMIM:224750
Dowling-Degos Disease	Pruritus, Hyperkeratosis, Hyperkeratotic papule, Acne inversa	ORPHA:79145
Combined Immunodeficiency Due To Zap70 Deficiency	Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Absence of CD8-positive T...	ORPHA:911
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome	Microphthalmia, Short stature, Intrauterine growth retardation	ORPHA:48431
Tularemia	Abnormal nasopharyngeal adenoid morphology, Leukocytosis, Cervical lymphadenopathy, Mediastinal l...	ORPHA:3392
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency	Predominantly dermal neutrophilic infiltrate, Parakeratosis, Superficial dermal perivascular infl...	ORPHA:284426
Microphthalmia, Syndromic 12	Microphthalmia, Anophthalmia	OMIM:615524
Cystinosis	Failure to thrive, Dehydration	ORPHA:213
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Hemolytic anemia, Acute pancreatitis, Splenomegaly, Lymphadenitis, Recurrent tonsillitis, Lymphad...	OMIM:618935
Osteootohepatoenteric Syndrome	Pruritus, Failure to thrive, Dehydration, Weight loss	OMIM:619377
Syndromic Recessive X-Linked Ichthyosis	Hyperkeratosis, Ichthyosis	ORPHA:281090
Acquired Hypertrichosis Lanuginosa	Acanthosis nigricans, Thickened skin, Weight loss, Ichthyosis	ORPHA:2221
Mitochondrial Complex Iii Deficiency, Nuclear Type 6	Failure to thrive, Dehydration	OMIM:615453
Squamous Cell Carcinoma Of The Anal Canal	Neoplasm of the liver, Lymphadenopathy	ORPHA:424019
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Skin rash, Failure to thrive in infancy, Pustule, Joint swelling, Hyperkeratosis	OMIM:612852
Omenn Syndrome	Hepatomegaly, Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Lymphadenop...	OMIM:603554
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency	Hepatomegaly, Decreased proportion of naive T cells, Jaundice, Lymph node hypoplasia, Abnormally ...	ORPHA:276
Hypotrichosis With Juvenile Macular Degeneration	Hyperkeratosis	ORPHA:1573
Malignant Peritoneal Mesothelioma	Ascites, Pedal edema, Weight loss	ORPHA:168811
Rhabdoid Tumor	Neoplasm of the liver, Thrombocytopenia, Anemia, Lymphadenopathy	ORPHA:69077
Cortical Dysplasia, Complex, With Other Brain Malformations 6	Microphthalmia	OMIM:615771
Progressive Nodular Histiocytosis	Cachexia	ORPHA:158022
Immunodeficiency 97 With Autoinflammation	Autoimmune hemolytic anemia, Decreased proportion of CD4+CD25+ regulatory T cells, Eosinophilia, ...	OMIM:619802
Microvillus Inclusion Disease	Pruritus, Dehydration	ORPHA:2290
Oculocerebrocutaneous Syndrome	Microphthalmia, Orbital encephalocele, Anophthalmia	OMIM:164180
Pancreatoblastoma	Jaundice, Pancreatic calcification, Abnormal lymph node morphology	ORPHA:677
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1	Microphthalmia, Short stature	OMIM:251270
Lissencephaly Syndrome, Norman-Roberts Type	Hypoplastic spleen	ORPHA:89844
Ectodermal Dysplasia 12, Hypohidrotic/Hair/Tooth/Nail Type	Orthokeratosis, Subungual hyperkeratosis, Eczema, Acne inversa	OMIM:617337
Lysosomal Acid Lipase Deficiency	Failure to thrive, Hypertriglyceridemia, Cachexia, Pruritus, Dehydration, Weight loss, Xanthelasm...	ORPHA:275761
Griscelli Syndrome	Hepatomegaly, Abnormality of neutrophils, Splenomegaly, Jaundice, Hepatitis, Lymphadenopathy, Leu...	ORPHA:381
Gaucher Disease, Perinatal Lethal	Decreased body weight, Nonimmune hydrops fetalis, Polyhydramnios, Hyperkeratosis, Congenital nonb...	OMIM:608013
Isaacs Syndrome	Weight loss	ORPHA:84142
Ectodermal Dysplasia/Short Stature Syndrome	Hyperkeratosis, Palmoplantar keratoderma	OMIM:616029
Microphthalmia, Syndromic 11	Microphthalmia	OMIM:614402
Sézary Syndrome	Hepatomegaly, Splenomegaly, Abnormal lymphocyte morphology, Lymphadenopathy	ORPHA:3162
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)	Failure to thrive, Cachexia, Weight loss	OMIM:612075
Beta-Ketothiolase Deficiency	Weight loss, Edema, Dehydration	ORPHA:134
Microphthalmia, Isolated 5	Microphthalmia	OMIM:611040
Aggressive Systemic Mastocytosis	Pancytopenia, Portal hypertension, Hypersplenism, Thrombocytopenia, Leukocytosis, Lymphadenopathy...	ORPHA:98850
Thymic Carcinoma	Palpebral edema, Edema, Weight loss	ORPHA:99868
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy	Cachexia	ORPHA:1216
Congenital Disorder Of Glycosylation, Type Iil	Peau d'orange, Hyperkeratosis, Failure to thrive, Death in infancy	OMIM:614576
Stormorken Syndrome	Howell-Jolly bodies, Asplenia, Anemia, Hypoplastic spleen, Thrombocytopenia	OMIM:185070
Seckel Syndrome 2	Growth delay, Microphthalmia, Short stature	OMIM:606744
Meckel Syndrome, Type 2	Encephalocele, Meningocele, Anencephaly, Microphthalmia, Intrauterine growth retardation	OMIM:603194
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)	Slender build, Cachexia, Weight loss	OMIM:613662
Eosinophilic Gastroenteritis	Edema, Atopic dermatitis, Weight loss, Steatorrhea, Ascites	ORPHA:2070
Pachyonychia Congenita	Linear arrays of macular hyperkeratoses in flexural areas, Palmoplantar keratoderma, Follicular h...	ORPHA:2309
Lipodystrophy Due To Peptidic Growth Factors Deficiency	Thickened skin, Palmoplantar keratoderma, Cachexia, Weight loss	ORPHA:1979
Xk Aprosencephaly Syndrome	Microphthalmia	ORPHA:3469
Wolcott-Rallison Syndrome	Ascites, Dehydration, Decreased body weight	ORPHA:1667
Eosinophilic Fasciitis	Muscular edema, Edema, Weight loss	ORPHA:3165
Subacute Cutaneous Lupus Erythematosus	Discoid lupus rash, Hyperkeratosis, Malar rash	ORPHA:163525
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Hepatomegaly, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Lymphadenop...	OMIM:616100
Diabetes Insipidus, Nephrogenic, 2, Autosomal	Failure to thrive, Hypertonic dehydration	OMIM:125800
Niemann-Pick Disease, Type A	Hepatomegaly, Bone-marrow foam cells, Microcytic anemia, Splenomegaly, Lymphadenopathy, Sea-blue ...	OMIM:257200
Diabetes Insipidus, Nephrogenic, 1, X-Linked	Failure to thrive, Hypertonic dehydration	OMIM:304800
Meckel Syndrome, Type 8	Encephalocele, Microphthalmia, Occipital encephalocele, Anophthalmia	OMIM:613885
Congenital Ichthyosiform Erythroderma	Pruritus, Erythroderma, Palmoplantar keratoderma, Ichthyosis, Failure to thrive	ORPHA:79394
Purine Nucleoside Phosphorylase Deficiency	Autoimmune hemolytic anemia, Pure red cell aplasia, Autoimmune thrombocytopenia, Splenomegaly, Ne...	OMIM:613179
Oculopalatocerebral Syndrome	Microphthalmia, Short stature	OMIM:257910
Keratosis Follicularis Spinulosa Decalvans, X-Linked	Folliculitis, Palmoplantar keratoderma, Follicular hyperkeratosis	OMIM:308800
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Eosinophilia, Autoimmune thrombocytopenia, Decreased proportion of CD8-positive T cells, Lymphade...	ORPHA:169154
Galactose Epimerase Deficiency	Weight loss	ORPHA:79238
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	Microphthalmia, Rhizomelia, Short stature, Intrauterine growth retardation	OMIM:300863
Cerebrooculofacioskeletal Syndrome 2	Growth delay, Microphthalmia, Intrauterine growth retardation	OMIM:610756
Thyroid Lymphoma	Lymphadenopathy	ORPHA:97285
Methylmalonic Aciduria, Cblb Type	Failure to thrive, Dehydration	OMIM:251110
Pachyonychia Congenita 3	Chapped lip, Plantar hyperkeratosis, Palmoplantar keratoderma, Follicular hyperkeratosis, Palmar ...	OMIM:615726
Gracile Bone Dysplasia	Asplenia, Hypoplastic spleen	OMIM:602361
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis	Psoriasiform dermatitis, Acne, Skin rash, Edema, Pruritus, Weight loss, Palmoplantar pustulosis	ORPHA:324964
Oculogastrointestinal Neurodevelopmental Syndrome	Bilateral microphthalmos, Short stature, Unilateral microphthalmos	OMIM:619318
Neonatal Lupus Erythematosus	Parakeratosis, Skin rash, Maculopapular exanthema, Hyperkeratosis, Malar rash	ORPHA:398124
Ectodermal Dysplasia-Sensorineural Deafness Syndrome	Hyperkeratosis	ORPHA:1883
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome	Overweight, Follicular hyperkeratosis	ORPHA:486815
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Abnormally low T cell receptor excision circle level, Pancytopenia, Generalized lymphadenopathy, ...	OMIM:618986
Mulibrey Nanism	Cachexia	ORPHA:2576
Monilethrix	Follicular hyperkeratosis	ORPHA:573
Omenn Syndrome	Hepatomegaly, Eosinophilia, Splenomegaly, Leukocytosis, Lymphadenopathy, Abnormal lymphocyte morp...	ORPHA:39041
Diffuse Cutaneous Mastocytosis	Hepatomegaly, Abnormality of the spleen, Lymphadenopathy, Abnormality of the liver, Lymphocytosis...	ORPHA:79456
Monilethrix	Perifollicular hyperkeratosis	OMIM:158000
Congenital Rubella Syndrome	Aplasia/Hypoplasia of the iris, Microphthalmia, Short stature, Intrauterine growth retardation	ORPHA:290
Cyclic Neutropenia	Cyclic neutropenia, Cervical lymphadenopathy, Recurrent tonsillitis, Peritonitis, Lymphadenopathy...	ORPHA:2686
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures	Microphthalmia, Mild short stature, Short stature, Optic nerve hypoplasia	OMIM:614833
Warburg Micro Syndrome 1	Microphthalmia, Short stature	OMIM:600118
Bullous Pemphigoid	Psoriasiform dermatitis, Eczema, Weight loss	ORPHA:703
Leopard Syndrome 3	Hyperkeratosis, Epidermal hyperkeratosis	OMIM:613707
Renal Hypoplasia	Small for gestational age, Dehydration	ORPHA:93101
Spinocerebellar Ataxia 34	Epidermal hyperkeratosis, Erythroderma	OMIM:133190
Macrophage Activation Syndrome	Hepatomegaly, Splenomegaly, Thrombocytopenia, Hepatitis, Lymphadenopathy, Hemophagocytosis, Neutr...	ORPHA:158061
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome	Cachexia	ORPHA:1144
Papa Syndrome	Lymphadenopathy	ORPHA:69126
Multicentric Reticulohistiocytosis	Cachexia	ORPHA:139436
Kaposi Sarcoma	Abnormality of the spleen, Abnormality of the liver, Generalized lymphadenopathy	ORPHA:33276
Pearson Marrow-Pancreas Syndrome	Small for gestational age, Hydrops fetalis, Dehydration, Death in childhood, Steatorrhea, Failure...	OMIM:557000
Medullary Thyroid Carcinoma	Abnormal liver parenchyma morphology, Lymphadenopathy	ORPHA:1332
Roifman Syndrome	Hepatomegaly, Splenomegaly, Eosinophilia, Lymphadenopathy	OMIM:616651
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Neonatal death, Dehydration, Oligohydramnios	OMIM:263200
Boutonneuse Fever	Leukopenia, Cervical lymphadenopathy, Thrombocytopenia, Lymphadenopathy	ORPHA:83313
Costello Syndrome	Acanthosis nigricans, Hyperkeratosis, Failure to thrive in infancy, Polyhydramnios	ORPHA:3071
Linear Verrucous Nevus Syndrome	Hyperkeratosis	ORPHA:2611
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency	Decreased circulating cortisol level, Failure to thrive, Dehydration	ORPHA:90791
Pierpont Syndrome	Microphthalmia, Short stature	OMIM:602342
Poikiloderma With Neutropenia	Plantar hyperkeratosis, Skin rash, Edema, Hyperkeratosis, Palmoplantar keratoderma	OMIM:604173
Aregenerative Anemia	Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Lymphadenopathy, Bone marrow hypocellulari...	ORPHA:101096
Lissencephaly 8	Microphthalmia, Occipital encephalocele	OMIM:617255
Darier-White Disease	Pruritus, Acrokeratosis, Subungual hyperkeratotic fragments, Acantholysis	OMIM:124200
Diencephalic Syndrome	Cachexia, Decreased body weight	ORPHA:1672
Muscular Dystrophy, Congenital, Davignon-Chauveau Type	Follicular hyperkeratosis	OMIM:617066
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal	Hypertriglyceridemia, Orthokeratotic hyperkeratosis, Palmoplantar keratoderma, Hypercholesterolem...	OMIM:610644
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Hyperkeratosis, Death in infancy	ORPHA:163966
Immunodeficiency 91 And Hyperinflammation	Hepatomegaly, Neutrophilia, Lymphadenopathy, Hepatosplenomegaly, Monocytosis, Hemophagocytosis, T...	OMIM:619644
Familial Keratoacanthoma	Hyperkeratosis	ORPHA:493
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies	Microcytic anemia, Lymphadenopathy, Hepatosplenomegaly	OMIM:619750
Palmoplantar Carcinoma, Multiple Self-Healing	Parakeratosis, Palmoplantar keratoderma, Follicular hyperkeratosis	OMIM:615225
Meckel Syndrome, Type 5	Microphthalmia, Occipital encephalocele, Anencephaly	OMIM:611561
Proteasome-Associated Autoinflammatory Syndrome 2	Increased CD4:CD8 ratio, Lymphadenopathy, B lymphocytopenia, Decreased proportion of memory B cel...	OMIM:618048
Melkersson-Rosenthal Syndrome	Lymphadenopathy	ORPHA:2483
Familial Renal Glucosuria	Dehydration	ORPHA:69076
Congenital Muscular Dystrophy Due To Lmna Mutation	Death in infancy, Cachexia	ORPHA:157973
Majeed Syndrome	Inflammatory abnormality of the skin, Acne, Cachexia, Edema, Pustule, Weight loss, Failure to thrive	ORPHA:77297
Bresek Syndrome	Growth delay, Microphthalmia, Optic nerve hypoplasia, Intrauterine growth retardation	ORPHA:85284
Developmental And Epileptic Encephalopathy 1	Growth delay, Microphthalmia	OMIM:308350
3-Hydroxy-3-Methylglutaric Aciduria	Weight loss, Edema, Dehydration	ORPHA:20
Linear Skin Defects With Multiple Congenital Anomalies 2	Microphthalmia, Short stature	OMIM:300887
Osteosarcoma	Joint swelling, Weight loss	ORPHA:668
Pierpont Syndrome	Microphthalmia	ORPHA:487825
Combined Immunodeficiency Due To Crac Channel Dysfunction	Hepatomegaly, Hemolytic anemia, Splenomegaly, Lymphadenopathy, Thrombocytopenia	ORPHA:169090
Methylmalonic Aciduria, Cbla Type	Failure to thrive, Dehydration	OMIM:251100
Meckel Syndrome, Type 4	Encephalocele, Meningocele, Anencephaly, Microphthalmia, Intrauterine growth retardation	OMIM:611134
Psoriasis 14, Pustular	Pustule, Parakeratosis, Psoriasiform dermatitis	OMIM:614204
Hereditary Mucoepithelial Dysplasia	Hyperkeratosis	ORPHA:1839
3-Methylglutaconic Aciduria, Type Viib	Polyhydramnios, Dehydration	OMIM:616271
Anterior Segment Dysgenesis 5	Hypoplasia of the fovea, Hypoplasia of the iris, Rieger anomaly, Microphthalmia	OMIM:604229
Ring Chromosome 10 Syndrome	Microphthalmia, Intrauterine growth retardation	ORPHA:1438
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Eosinophilia, Autoimmune thrombocytopenia, Thrombocytopenia, Hepatitis, Lymphadenopathy, Coombs-p...	OMIM:304790
Acute Myelomonocytic Leukemia	Weight loss	ORPHA:517
Roifman Syndrome	Eosinophilia, Lymphadenopathy, Hepatosplenomegaly	ORPHA:353298
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability	Microphthalmia	ORPHA:1473
Wolman Disease	Ascites, Cachexia, Steatorrhea	ORPHA:75233
Felty Syndrome	Hepatomegaly, Splenomegaly, Thrombocytopenia, Lymphadenopathy, Bone marrow hypocellularity, Neutr...	ORPHA:47612
Acute Monoblastic/Monocytic Leukemia	Acute monocytic leukemia, Leukocytosis, Cervical lymphadenopathy, Lymphocytosis, Hypochromic anem...	ORPHA:514
American Trypanosomiasis	Hepatomegaly, Splenomegaly, Lymphadenopathy	ORPHA:3386
Cinca Syndrome	Hepatomegaly, Abnormality of neutrophils, Splenomegaly, Leukocytosis, Lymphadenopathy, Abnormal g...	ORPHA:1451
Immunodeficiency With Hyper-Igm, Type 1	Hemolytic anemia, Hepatomegaly, Absence of lymph node germinal center, Splenomegaly, Enlarged ton...	OMIM:308230
Adult-Onset Still Disease	Hepatomegaly, Neutrophilia, Generalized lymphadenopathy, Splenomegaly, Leukocytosis, Hepatitis, B...	ORPHA:829
Huntington Disease-Like 2	Weight loss	OMIM:606438
Microphthalmia, Syndromic 8	Microphthalmia	OMIM:601349
Pulmonary Non-Tuberculous Mycobacterial Infection	Lymphadenopathy	ORPHA:411703
Baraitser-Winter Syndrome 2	Microphthalmia, Short stature	OMIM:614583
Arrhinia-Choanal Atresia-Microphthalmia Syndrome	Microphthalmia	ORPHA:1135
Granulomatous Disease, Chronic, Autosomal Recessive, 1	Hepatomegaly, Liver abscess, Splenomegaly, Lymphadenitis, Lymphadenopathy, Impaired oxidative bur...	OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2	Hepatomegaly, Liver abscess, Splenomegaly, Lymphadenitis, Lymphadenopathy, Impaired oxidative bur...	OMIM:233710
Amelo-Onycho-Hypohidrotic Syndrome	Hyperkeratosis	ORPHA:1028
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome	Microphthalmia, Rhizomelia	ORPHA:93267
Yao Syndrome	Xerostomia, Inflammatory abnormality of the skin, Skin rash, Weight loss	OMIM:617321
Donohue Syndrome	Acanthosis nigricans, Hyperkeratosis, Severe failure to thrive	OMIM:246200
Tyrosinemia Type 2	Hyperkeratosis, Palmoplantar keratoderma	ORPHA:28378
Joint Contractures, Osteochondromas, And B-Cell Lymphoma	Generalized lymphadenopathy	OMIM:620232
Trichothiodystrophy 1, Photosensitive	Death in infancy, Small for gestational age, Hyperkeratosis, Congenital nonbullous ichthyosiform ...	OMIM:601675
Hidrotic Ectodermal Dysplasia, Halal Type	Follicular hyperkeratosis	ORPHA:1809
Hereditary Sensory And Autonomic Neuropathy Type 1	Hyperkeratosis	ORPHA:36386
Microcephaly 20, Primary, Autosomal Recessive	Microphthalmia, Short stature, Optic nerve hypoplasia, Intrauterine growth retardation	OMIM:617914
Ichthyosis-Alopecia-Eclabion-Ectropion-Intellectual Disability Syndrome	Generalized hyperkeratosis, Generalized ichthyosis	ORPHA:2269
Dend Syndrome	Dehydration	ORPHA:79134
Cholera	Miscarriage, Dehydration	ORPHA:173
Castleman Disease	Generalized lymphadenopathy, Follicular hyperplasia, Mediastinal lymphadenopathy, Thrombocytopeni...	ORPHA:160
Rodrigues Blindness	Microphthalmia, Short stature	OMIM:268320
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome	Microphthalmia	OMIM:601794
Prolidase Deficiency	Pruritus, Hyperkeratosis, Crusting erythematous dermatitis, Palmoplantar keratoderma	ORPHA:742
Hypohidrotic Ectodermal Dysplasia	Hyperkeratosis, Failure to thrive, Xerostomia, Eczema	ORPHA:238468
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11	Microphthalmia, Optic nerve hypoplasia	OMIM:615181
Granulomatous Disease, Chronic, Autosomal Recessive, 4	Hepatomegaly, Liver abscess, Splenomegaly, Lymphadenitis, Lymphadenopathy, Impaired oxidative bur...	OMIM:233690
Oligomeganephronia	Small for gestational age, Dehydration	ORPHA:2260
Cutaneous Mastocytoma	Lymphadenopathy	ORPHA:79455
Spondylo-Ocular Syndrome	Microphthalmia, Aplasia/Hypoplasia of the lens, Short stature, Disproportionate short-trunk short...	ORPHA:85194
Deafness, X-Linked 7	Unilateral microphthalmos	OMIM:301018
Scrub Typhus	Splenomegaly, Lymphadenopathy	ORPHA:83317
Microphthalmia, Syndromic 5	Microphthalmia, Anophthalmia, Short stature, Optic nerve hypoplasia	OMIM:610125
Bartter Syndrome Type 4	Small for gestational age, Polyhydramnios, Dehydration, Hyperaldosteronism, Severe failure to thr...	ORPHA:89938
Autoinflammation With Arthritis And Dyskeratosis	Failure to thrive, Follicular hyperkeratosis, Palmoplantar hyperkeratosis	OMIM:617388
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1	Microphthalmia	OMIM:613155
Singleton-Merten Syndrome 2	Hyperkeratosis	OMIM:616298
Cutaneous Neuroendocrine Carcinoma	Lymphoid leukemia, Chronic noninfectious lymphadenopathy	ORPHA:79140
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked	Hyperkeratosis, Failure to thrive in infancy	OMIM:301220
Chronic Mucocutaneous Candidiasis	Pruritus, Hyperkeratosis, Skin rash	ORPHA:1334
Pelvis-Shoulder Dysplasia	Microphthalmia, Spina bifida occulta, Short stature	OMIM:169550
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis	Pruritus, Parakeratosis, Orthokeratosis, Ichthyosis	OMIM:607626
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome	Microphthalmia	ORPHA:363741
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency	Hepatomegaly, Autoimmune hemolytic anemia, Pure red cell aplasia, Autoimmune thrombocytopenia, Sp...	ORPHA:436159
Bartter Syndrome, Type 3	Hyperaldosteronism, Dehydration	OMIM:607364
Developmental Delay With Variable Neurologic And Brain Abnormalities	Microphthalmia	OMIM:619694
Temtamy Syndrome	Microphthalmia	ORPHA:1777
Ullrich Congenital Muscular Dystrophy 1	Failure to thrive, Slender build, Follicular hyperkeratosis	OMIM:254090
Isolated Permanent Neonatal Diabetes Mellitus	Failure to thrive, Dehydration, Weight loss	ORPHA:99885
Familial Pancreatic Carcinoma	Pancreatic adenocarcinoma, Jaundice, Extrahepatic cholestasis, Lymphadenopathy, Hepatosplenomegal...	ORPHA:1333
Hereditary Central Diabetes Insipidus	Weight loss	ORPHA:30925
Braddock-Carey Syndrome 2	Microphthalmia	OMIM:619981
Osteoporosis-Pseudoglioma Syndrome	Microphthalmia, Short stature	ORPHA:2788
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Hemolytic anemia, Autoimmune hemolytic anemia, Decreased proportion of CD4+CD25+ regulatory T cel...	OMIM:606367
Autosomal Dominant Keratitis	Hypoplasia of the fovea, Bilateral microphthalmos, Hypoplastic iris stroma, Macular hypoplasia, A...	ORPHA:2334
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Microphthalmia	OMIM:602501
Reactive Arthritis	Pustule, Joint swelling, Hyperkeratosis, Weight loss	ORPHA:29207
Anaplastic Thyroid Carcinoma	Lymphadenopathy	ORPHA:142
Frontonasal Dysplasia 1	Cranium bifidum occultum, Microphthalmia, Anterior basal encephalocele	OMIM:136760
Neuropathy, Congenital Hypomyelinating, 3	Neonatal death, Cachexia, Polyhydramnios	OMIM:618186
Wilson Disease	Pruritus, Increased body weight, Weight loss, Joint swelling, Failure to thrive	ORPHA:905
Vipoma	Increased circulating cortisol level, Ascites, Dehydration, Weight loss	ORPHA:97282
Proteasome-Associated Autoinflammatory Syndrome 3	Hepatomegaly, Splenomegaly, Thrombocytopenia, Lymphadenopathy, Lymphopenia, Anemia	OMIM:617591
Oculopharyngodistal Myopathy	Weight loss	ORPHA:98897
Systemic Mastocytosis With Associated Hematologic Neoplasm	Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Neutrophilia, Eosinophilia, Splenomegaly...	ORPHA:98849
Sialidosis Type 1	Hyperkeratosis	ORPHA:812
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts	Microphthalmia	OMIM:613730
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome	Microphthalmia	ORPHA:231736
Acute Radiation Syndrome	Hyperkeratosis, Inflammatory abnormality of the skin	ORPHA:454831
Matthew-Wood Syndrome	Microphthalmia, Anophthalmia, Intrauterine growth retardation	ORPHA:2470
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome	Epidermal hyperkeratosis, Palpebral edema, Nonimmune hydrops fetalis, Lymphedema	OMIM:137940
Benign Recurrent Intrahepatic Cholestasis	Pruritus, Weight loss	ORPHA:65682
Familial Hemophagocytic Lymphohistiocytosis	Hepatomegaly, Splenomegaly, Thrombocytopenia, Jaundice, Lymphadenopathy, Cholestatic liver diseas...	ORPHA:540
Juvenile Huntington Disease	Weight loss	ORPHA:248111
Microphthalmia-Microtia-Fetal Akinesia Syndrome	Microphthalmia	ORPHA:2547
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Hepatomegaly, Pancytopenia, Abnormal lymphocyte count, Portal hypertension, Absence of lymph node...	ORPHA:79124
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome	Encephalocele, Microphthalmia, Intrauterine growth retardation	ORPHA:228390
Wild Type Attr Amyloidosis	Pleural effusion, Weight loss, Pedal edema, Pulmonary edema	ORPHA:330001
Attrv30M Amyloidosis	Weight loss	ORPHA:85447
Naxos Disease	Subungual hyperkeratosis, Acantholysis, Diffuse palmoplantar hyperkeratosis, Hyperkeratosis, Palm...	OMIM:601214
Nephrogenic Diabetes Insipidus	Hypernatremic dehydration, Failure to thrive, Polyhydramnios	ORPHA:223
Oculocutaneous Albinism Type 1A	Hyperkeratosis, Thickened skin	ORPHA:79431
Anterior Segment Dysgenesis 2	Aniridia, Microphthalmia, Congenital aphakia, Anterior segment of eye aplasia	OMIM:610256
Hyperimmunoglobulinemia D With Periodic Fever	Hepatomegaly, Peritonitis, Lymphadenopathy	ORPHA:343
Autoinflammation, Panniculitis, And Dermatosis Syndrome	Neutrophilia, Leukocytosis, Increased proportion of CD4-positive T cells, Lymphadenopathy	OMIM:617099
Cornea Plana 2, Autosomal Recessive	Microphthalmia	OMIM:217300
Hemophagocytic Lymphohistiocytosis, Familial, 2	Hepatomegaly, Pancytopenia, Splenomegaly, Thrombocytopenia, Jaundice, Lymphadenopathy, Hepatosple...	OMIM:603553
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative	Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Absent p...	OMIM:600802
Thymic Neuroendocrine Tumor	Neoplasm of the thymus, Mediastinal lymphadenopathy, Pancreatic islet cell adenoma, Chronic nonin...	ORPHA:97289
Subaortic Stenosis-Short Stature Syndrome	Microphthalmia, Short stature	ORPHA:3191
Hemophagocytic Lymphohistiocytosis, Familial, 1	Hepatomegaly, Splenomegaly, Thrombocytopenia, Jaundice, Lymphadenopathy, Leukopenia, Hemophagocyt...	OMIM:267700
Frontonasal Dysplasia 3	Microphthalmia	OMIM:613456
Legionnaires Disease	Splenomegaly, Jaundice, Hepatitis, Lymphadenopathy, Bone marrow hypocellularity, Lymphopenia, Pan...	ORPHA:549
Coloboma, Ocular, Autosomal Dominant	Microphthalmia, Optic nerve aplasia, Growth delay	OMIM:120200
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency	Increased T cell count, Absent peripheral lymph nodes in presence of infection, Increased B cell ...	ORPHA:98813
Shigellosis	Failure to thrive in infancy, Dehydration	ORPHA:810
Chediak-Higashi Syndrome	Impaired neutrophil bactericidal activity, Hepatomegaly, Abnormal dense granules, Splenomegaly, T...	OMIM:214500
Poems Syndrome	Edema, Pericardial effusion, Thickened skin, Abnormality of skin physiology, Weight loss, Pleural...	ORPHA:2905
Lig4 Syndrome	Hepatomegaly, Pancytopenia, Leukocytosis, Acute leukemia, Lymphadenopathy	ORPHA:99812
Hypotrichosis And Recurrent Skin Vesicles	Follicular hyperkeratosis	OMIM:613102
Systemic Capillary Leak Syndrome	Pleural effusion, Weight loss, Pedal edema, Pulmonary edema	ORPHA:188
Focal Myositis	Weight loss	ORPHA:48918
Trisomy 13	Aplasia/Hypoplasia of the iris, Microphthalmia, Anophthalmia, Intrauterine growth retardation	ORPHA:3378
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Hepatomegaly, Splenomegaly, Lymphadenitis, Leukocytosis, Cholestasis, Lymphadenopathy, Hepatic fi...	OMIM:615895
Alexander Disease Type I	Failure to thrive, Cachexia	ORPHA:363717
Immunodeficiency 55	Absent natural killer cells, Lymphopenia, Neutropenia, Lymphadenopathy	OMIM:617827
Triokinase And Fmn Cyclase Deficiency Syndrome	Microphthalmia	OMIM:618805
Immunodeficiency, Common Variable, 8, With Autoimmunity	Pancytopenia, Generalized lymphadenopathy, Autoimmune hemolytic anemia, Chronic neutropenia, Auto...	OMIM:614700
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Failure to thrive, Hydrops fetalis, Dehydration	ORPHA:79282
Christianson Syndrome	Death in early adulthood, Cachexia	ORPHA:85278
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant	Hyperkeratosis, Recurrent bacterial skin infections, Ichthyosis	OMIM:148210
Alternating Hemiplegia Of Childhood	Failure to thrive, Dehydration	ORPHA:2131
Dopamine Beta-Hydroxylase Deficiency	Dehydration	ORPHA:230
Sandestig-Stefanova Syndrome	Microphthalmia, Intrauterine growth retardation	OMIM:618804
Infantile Nephropathic Cystinosis	Failure to thrive, Dehydration	ORPHA:411629
Hirschsprung Disease	Failure to thrive in infancy, Weight loss	ORPHA:388
Malt Lymphoma	Mediastinal lymphadenopathy, Anemia, Lymphadenopathy	ORPHA:52417
Mirage Syndrome	Anemia, Leukopenia, Hypoplastic spleen, Lymphopenia, Thrombocytopenia	OMIM:617053
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency	Decreased circulating cortisol level, Failure to thrive, Dehydration	ORPHA:168558
Solitary Median Maxillary Central Incisor	Microphthalmia, Anophthalmia, Short stature	OMIM:147250
Alpha-N-Acetylgalactosaminidase Deficiency Type 2	Hyperkeratosis, Lymphedema	ORPHA:79280
Anterior Segment Dysgenesis 7	Buphthalmos, Microphthalmia	OMIM:269400
Inflammatory Bowel Disease 11	Weight loss	OMIM:191390
17Q12 Microduplication Syndrome	Microphthalmia	ORPHA:261272
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency	Decreased circulating cortisol level, Failure to thrive, Dehydration	ORPHA:289548
Holocarboxylase Synthetase Deficiency	Weight loss, Eczema, Perioral eczema	ORPHA:79242
Bartter Syndrome, Type 1, Antenatal	Small for gestational age, Polyhydramnios, Dehydration, Hyperaldosteronism, Failure to thrive	OMIM:601678
Primary Intestinal Lymphangiectasia	Edema, Pericardial effusion, Weight loss, Pleural effusion, Ascites, Generalized edema	ORPHA:90362
Fetal Alcohol Syndrome	Microphthalmia, Short stature, Intrauterine growth retardation	ORPHA:1915
Microphthalmia-Brain Atrophy Syndrome	Bilateral microphthalmos	ORPHA:77299
Nodular Non-Suppurative Panniculitis	Edema, Weight loss	ORPHA:33577
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy	Cachexia, Polyhydramnios	ORPHA:2774
Spinocerebellar Ataxia 48	Cachexia	OMIM:618093
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome	Hyperkeratosis, Ichthyosis	ORPHA:1005
Acute Promyelocytic Leukemia	Pancytopenia, Thrombocytopenia, Leukocytosis, Lymphadenopathy, Leukopenia, Neutropenia, Anemia	ORPHA:520
Idiopathic Chronic Eosinophilic Pneumonia	Pleural effusion, Atopic dermatitis, Weight loss	ORPHA:2902
Gallbladder Neuroendocrine Tumor	Chronic noninfectious lymphadenopathy, Biliary tract neoplasm, Extrahepatic cholestasis, Intermit...	ORPHA:100086
Rere-Related Neurodevelopmental Syndrome	Postnatal growth retardation, Microphthalmia, Intrauterine growth retardation	ORPHA:494344
Rheumatoid Arthritis	Joint swelling, Weight loss	OMIM:180300
Hyper-Igd Syndrome	Neutrophilia, Splenomegaly, Lymphadenitis, Leukocytosis, Lymphadenopathy, Hepatosplenomegaly	OMIM:260920
Hereditary Amyloidosis With Primary Renal Involvement	Hepatomegaly, Abnormal lymph node morphology, Lymphadenopathy, Hepatosplenomegaly, Anemia	ORPHA:85450
Mevalonic Aciduria	Normocytic hypoplastic anemia, Fluctuating splenomegaly, Fluctuating hepatomegaly, Thrombocytopen...	OMIM:610377
Pyruvate Carboxylase Deficiency	Failure to thrive, Dehydration	ORPHA:3008
Werner Syndrome	Hyperkeratosis, Miscarriage, Slender build	ORPHA:902
Premature Aging Syndrome, Penttinen Type	Thickened skin, Palmoplantar hyperkeratosis, Corneal stromal edema, Hyperkeratosis, Failure to th...	OMIM:601812
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5	Microphthalmia	OMIM:613153
Joubert Syndrome 37	Microphthalmia, Short stature	OMIM:619185
Perry Syndrome	Weight loss	ORPHA:178509
Trichothiodystrophy 3, Photosensitive	Microphthalmia, Short stature, Intrauterine growth retardation	OMIM:616395
Allergic Bronchopulmonary Aspergillosis	Weight loss	ORPHA:1164
Periodic Fever, Familial, Autosomal Dominant	Hepatomegaly, Cervical lymphadenopathy, Hepatic amyloidosis	OMIM:142680
Acute Generalized Exanthematous Pustulosis	Neutrophilia, Eosinophilia, Leukocytosis, Cholestasis, Lymphadenopathy, Neutropenia	ORPHA:293173
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy	Buphthalmos, Microphthalmia	OMIM:212550
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1	Eczema, Polyhydramnios, Large for gestational age, Hyperkeratosis, Ichthyosis, Failure to thrive	OMIM:607721
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type	Postnatal growth retardation, Microphthalmia, Intrauterine growth retardation	ORPHA:2728
Idiopathic Uveal Effusion Syndrome	Microphthalmia	ORPHA:209956
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency	Decreased circulating cortisol level, Acne, Miscarriage, Dehydration, Weight loss, Failure to thrive	ORPHA:90794
Fanconi Anemia, Complementation Group I	Microphthalmia, Short stature, Optic nerve hypoplasia, Intrauterine growth retardation	OMIM:609053
Mixed Connective Tissue Disease	Hemolytic anemia, Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Leuko...	ORPHA:809
X-Linked Agammaglobulinemia	Recurrent cutaneous abscess formation, Failure to thrive, Skin rash, Weight loss	ORPHA:47
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	Growth delay, Microphthalmia, Anophthalmia	ORPHA:77298
Oculotrichoanal Syndrome	Microphthalmia, Anophthalmia	ORPHA:2717
Microsporidiosis	Cachexia, Dehydration, Weight loss	ORPHA:2552
Mycetoma	Recurrent bacterial skin infections, Cobblestone-like hyperkeratosis	ORPHA:2583
Punctate Palmoplantar Keratoderma Type 1	Hypergranulosis, Palmoplantar hyperkeratosis, Palmoplantar keratoderma, Orthokeratosis, Hyperkera...	ORPHA:79501
Cardiofaciocutaneous Syndrome	Failure to thrive in infancy, Lymphedema, Hyperkeratosis, Palmoplantar keratoderma, Ichthyosis	ORPHA:1340
Cystic Fibrosis	Failure to thrive, Dehydration, Steatorrhea	OMIM:219700
Oculocerebrorenal Syndrome Of Lowe	Death in infancy, Dehydration, Joint swelling, Hyperaldosteronism, Hypercholesterolemia, Failure ...	ORPHA:534
Pearson Syndrome	Small for gestational age, Hydrops fetalis, Dehydration, Corneal stromal edema, Steatorrhea	ORPHA:699
Inflammatory Bowel Disease (Crohn Disease) 1	Weight loss	OMIM:266600
Common Variable Immunodeficiency	Hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Lymphadenopathy, Abnormality of the ...	ORPHA:1572
Fucosidosis	Failure to thrive, Generalized hyperkeratosis	ORPHA:349
Monosomy 18P	Microphthalmia, Short stature	ORPHA:1598
Colchicine Poisoning	Dehydration	ORPHA:31824
Hypocomplementemic Urticarial Vasculitis	Hepatomegaly, Splenomegaly, Lymphadenopathy	ORPHA:36412
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Accessory spleen, Hepatomegaly, Splenomegaly, Microvesicular hepatic steatosis, Macronodular cirr...	OMIM:619418
Cardiofaciocutaneous Syndrome 1	Polyhydramnios, Atopic dermatitis, Hyperkeratosis, Ichthyosis, Failure to thrive	OMIM:115150
Hydrolethalus	Microphthalmia, Anophthalmia, Anencephaly	ORPHA:2189
Ménétrier Disease	Peripheral edema, Weight loss	ORPHA:2494
Bartter Syndrome, Type 2, Antenatal	Small for gestational age, Polyhydramnios, Dehydration, Hyperaldosteronism, Failure to thrive	OMIM:241200
Ectodermal Dysplasia-Blindness Syndrome	Hyperkeratosis	ORPHA:1806
Kid Syndrome	Recurrent cutaneous abscess formation, Recurrent bacterial skin infections, Psoriasiform dermatit...	ORPHA:477
Mcdonough Syndrome	Cachexia	ORPHA:2471
Fanconi Anemia, Complementation Group S	Microphthalmia, Short stature	OMIM:617883
Distal Renal Tubular Acidosis	Failure to thrive, Dehydration	ORPHA:18
Baraitser-Winter Syndrome 1	Postnatal growth retardation, Microphthalmia, Short stature	OMIM:243310
Agammaglobulinemia, X-Linked	Hepatocellular carcinoma, Enteroviral hepatitis, Lymph node hypoplasia, T lymphocytopenia, B lymp...	OMIM:300755
Fanconi Anemia, Complementation Group R	Growth delay, Microphthalmia	OMIM:617244
Neurodevelopmental, Jaw, Eye, And Digital Syndrome	Microphthalmia, Lens coloboma, Umbilical hernia	OMIM:618914
Nance-Horan Syndrome	Microphthalmia	ORPHA:627
Cronkhite-Canada Syndrome	Cachexia, Lymphedema	ORPHA:2930
Drug Reaction With Eosinophilia And Systemic Symptoms	Skin rash, Pustule, Angioedema, Weight loss, Erythroderma	ORPHA:139402
Bone Dysplasia, Lethal Holmgren Type	Failure to thrive, Weight loss	ORPHA:1842
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects	Parakeratosis, Hyperkeratosis, Congenital ichthyosiform erythroderma, Stillbirth, Orthokeratosis	OMIM:308050
Huntington Disease	Decreased body mass index, Weight loss	ORPHA:399
Pneumocystosis	Pleural effusion, Weight loss, Chronic oral candidiasis	ORPHA:723
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies	Bilateral microphthalmos, Optic nerve hypoplasia, Ethmoidal encephalocele	OMIM:607597
Bartsocas-Papas Syndrome 2	Microphthalmia	OMIM:619339
Juvenile Nephropathic Cystinosis	Failure to thrive, Dehydration	ORPHA:411634
Adrenocortical Carcinoma	Paradoxical increased cortisol secretion on dexamethasone suppression test, Increased body weight...	ORPHA:1501
Neurooculocardiogenitourinary Syndrome	Microphthalmia	OMIM:618652
Frontofacionasal Dysplasia	Encephalocele, Microphthalmia, Short stature	ORPHA:1791
Warburg Micro Syndrome 4	Severe postnatal growth retardation, Microphthalmia, Short stature	OMIM:615663
Bone Marrow Failure Syndrome 3	Hyperkeratosis, Failure to thrive, Eczema	OMIM:617052
Mitochondrial Neurogastrointestinal Encephalomyopathy	Cachexia, Weight loss	ORPHA:298
Ectodermal Dysplasia-Skin Fragility Syndrome	Chapped lip, Recurrent skin infections, Pruritus, Palmoplantar keratoderma, Follicular hyperkerat...	ORPHA:158668
Carcinoid Syndrome	Chronic noninfectious lymphadenopathy, Hepatic necrosis	ORPHA:100093
Odontoonychodermal Dysplasia	Plantar hyperkeratosis, Hypergranulosis, Palmoplantar hyperkeratosis, Follicular hyperkeratosis, ...	OMIM:257980
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia	Cervical lymphadenopathy, Decreased mean platelet volume, Lymphadenopathy, Lymphocytosis, Thrombo...	OMIM:617718
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome	Microphthalmia, Intrauterine growth retardation	ORPHA:1352
Primary Fanconi Renotubular Syndrome	Dehydration, Weight loss	ORPHA:3337
Severe Generalized Junctional Epidermolysis Bullosa	Recurrent skin infections, Edema, Dehydration, Pyoderma, Failure to thrive	ORPHA:79404
Congenital Muscular Dystrophy With Cerebellar Involvement	Microphthalmia, Occipital encephalocele, Optic nerve hypoplasia	ORPHA:370959
Sting-Associated Vasculopathy, Infantile-Onset	Follicular hyperplasia, Paratracheal lymphadenopathy, Leukopenia, Thrombocytosis, Lymphopenia, An...	OMIM:615934
Huntington Disease-Like 1	Weight loss	ORPHA:157941
Kikuchi-Fujimoto Disease	Hepatomegaly, Generalized lymphadenopathy, Splenomegaly, Cervical lymphadenopathy, Thrombocytopen...	ORPHA:50918
Neuroleptic Malignant Syndrome	Dehydration	ORPHA:94093
Granulomatous Disease, Chronic, X-Linked	Hepatomegaly, Liver abscess, Splenomegaly, Lymphadenitis, Lymphadenopathy, Impaired oxidative bur...	OMIM:306400
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness	Microphthalmia, Short stature	OMIM:617306
Microphthalmia With Limb Anomalies	Growth delay, Microphthalmia, Anophthalmia, Postnatal growth retardation	OMIM:206920
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2	Failure to thrive in infancy, Cachexia	OMIM:616801
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Postnatal growth retardation, Microphthalmia, Severe intrauterine growth retardation	OMIM:241410
Graves Disease, Susceptibility To, 1	Weight loss	OMIM:275000
Isolated Succinate-Coq Reductase Deficiency	Weight loss	ORPHA:3208
Gm1 Gangliosidosis	Thickened skin, Failure to thrive, Hydrops fetalis, Weight loss	ORPHA:354
Nasopalpebral Lipoma-Coloboma Syndrome	Microphthalmia	OMIM:167730
Noonan Syndrome 10	Increased nuchal translucency, Hyperkeratosis, Pleural effusion	OMIM:616564
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12	Microphthalmia, Abnormally large globe	OMIM:615249
Marden-Walker Syndrome	Postnatal growth retardation, Microphthalmia, Intrauterine growth retardation	OMIM:248700
Carney Triad	Mediastinal lymphadenopathy, Anemia, Lymphadenopathy	ORPHA:139411
Graft Versus Host Disease	Jaundice, Lymphadenopathy, Chronic hepatitis, Hepatosplenomegaly, Hemophagocytosis, Acute hepatitis	ORPHA:39812
Aicardi-Goutieres Syndrome 9	Chilblains, Edema, Pericardial effusion, Weight loss, Ascites, Failure to thrive	OMIM:619487
Adams-Oliver Syndrome 2	Microphthalmia	OMIM:614219
Micro Syndrome	Microphthalmia, Intrauterine growth retardation, Short stature, Delayed puberty	ORPHA:2510
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome	Cachexia	ORPHA:1389
Riboflavin Transporter Deficiency	Cachexia	ORPHA:97229
Bethlem Myopathy	Hyperkeratosis	ORPHA:610
Nasopalpebral Lipoma-Coloboma Syndrome	Microphthalmia, Bilateral microphthalmos, Severe postnatal growth retardation	ORPHA:2399
Adenocarcinoma Of The Anal Canal	Neoplasm of the liver, Lymphadenopathy	ORPHA:424016
Methylmalonate Semialdehyde Dehydrogenase Deficiency	Microphthalmia	OMIM:614105
Hermansky-Pudlak Syndrome	Hyperkeratosis, Thickened skin, Weight loss	ORPHA:79430
Cystinosis, Nephropathic	Failure to thrive in infancy, Dehydration, Weight loss	OMIM:219800
Noonan Syndrome 2	Hyperkeratosis, Increased nuchal translucency, Polyhydramnios	OMIM:605275
Hyperoxaluria, Primary, Type I	Dehydration	OMIM:259900
Osteopetrosis, Autosomal Recessive 8	Unilateral microphthalmos	OMIM:615085
Acute Interstitial Pneumonia	Reduced hematocrit, Lymphadenopathy	ORPHA:79126
Autoimmune Lymphoproliferative Syndrome	Lymphocytosis, Increased B cell count, Elevated proportion of CD4-negative, CD8-negative, alpha-b...	ORPHA:3261
Mitochondrial Complex Iv Deficiency, Nuclear Type 10	Microphthalmia	OMIM:619053
Cap Polyposis	Weight loss	ORPHA:160148
Liposarcoma	Weight loss	ORPHA:69078
Waldenström Macroglobulinemia	Normocytic anemia, Hepatomegaly, Abnormality of neutrophils, Splenomegaly, Lymphadenopathy, Leukemia	ORPHA:33226
Cerebrooculofacioskeletal Syndrome 4	Intrauterine growth retardation, Bilateral microphthalmos, Short stature	OMIM:610758
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development	Microphthalmia	OMIM:152950
Takayasu Arteritis	Weight loss	ORPHA:3287
Paternal Uniparental Disomy Of Chromosome 6	Dehydration, Oligohydramnios	ORPHA:96191
Microphthalmia With Brain And Digit Anomalies	Microphthalmia, Anophthalmia	ORPHA:139471
Multiple Endocrine Neoplasia Type 1	Primary hypercortisolism, Increased circulating cortisol level, Dehydration, Weight loss	ORPHA:652
Peritoneal Cystic Mesothelioma	Weight loss	ORPHA:168816
Renpenning Syndrome	Cachexia	ORPHA:3242
Tangier Disease	Orange discolored tonsils, Chronic noninfectious lymphadenopathy, Hepatosplenomegaly, Anemia, Thr...	ORPHA:31150
Familial Thrombocytosis	Pruritus, Miscarriage, Weight loss	ORPHA:71493
Temtamy Syndrome	Microphthalmia	OMIM:218340
Joubert Syndrome 14	Encephalocele, Microphthalmia, Meningocele, Growth delay	OMIM:614424
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Dehydration	ORPHA:90038
Pulmonary Capillary Hemangiomatosis	Mediastinal lymphadenopathy, Lymphadenopathy	ORPHA:199241
Pediatric Systemic Lupus Erythematosus	Lymphadenopathy, Leukopenia, Microangiopathic hemolytic anemia, Lymphopenia, Thrombocytopenia	ORPHA:93552
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome	Microphthalmia	ORPHA:163649
Myoclonic-Astatic Epilepsy	Microphthalmia	ORPHA:1942
Lymphatic Filariasis	Hyperkeratosis, Predominantly lower limb lymphedema, Lymphedema	ORPHA:2035
Microphthalmia, Syndromic 9	Hypoplastic spleen, Multilobulated spleen	OMIM:601186
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies	Microphthalmia	OMIM:618494
Heart And Brain Malformation Syndrome	Growth delay, Microphthalmia	OMIM:616920
Q Fever	Hepatomegaly, Splenomegaly, Thrombocytopenia, Hepatitis, Lymphadenopathy, Hepatosplenomegaly, Abn...	ORPHA:781
Multiple Benign Circumferential Skin Creases On Limbs	Microphthalmia, Umbilical hernia, Short stature	ORPHA:2505
T-Cell Immunodeficiency With Thymic Aplasia	Decreased proportion of naive T cells, Aplasia of the thymus, Atypical or prolonged hepatitis, Ly...	ORPHA:83471
Budd-Chiari Syndrome	Ascites, Weight loss	ORPHA:131
Non-Functioning Paraganglioma	Weight loss	ORPHA:94080
Ifap Syndrome 1, With Or Without Bresheck Syndrome	Ichthyosis follicularis, Subungual hyperkeratosis, Death in infancy, Recurrent skin infections, E...	OMIM:308205
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Hepatomegaly, Pancytopenia, Portal hypertension, Splenomegaly, Leukocytosis, Lymphadenopathy, Hep...	OMIM:615688
Neuroendocrine Tumor Of The Colon	Hepatomegaly, Chronic noninfectious lymphadenopathy	ORPHA:100080
Kanzaki Disease	Hyperkeratosis, Lymphedema	OMIM:609242
Moebius Syndrome	Microphthalmia	OMIM:157900
Peripheral Primitive Neuroectodermal Tumor	Pruritus, Ascites, Weight loss	ORPHA:370348
Thyrotoxic Periodic Paralysis, Susceptibility To, 1	Weight loss	OMIM:188580
Chromosome 17Q12 Duplication Syndrome	Microphthalmia	OMIM:614526
Chronic Beryllium Disease	Weight loss	ORPHA:133
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency	Umbilical hernia, Bilateral microphthalmos, Short stature	ORPHA:369891
Stevenson-Carey Syndrome	Microphthalmia	OMIM:611961
Histiocytosis-Lymphadenopathy Plus Syndrome	Hepatomegaly, Retroperitoneal fibrosis, Splenomegaly, Cervical lymphadenopathy, Lymphadenopathy, ...	OMIM:602782
Proximal Renal Tubular Acidosis	Failure to thrive, Dehydration	ORPHA:47159
Exudative Vitreoretinopathy 2, X-Linked	Microphthalmia	OMIM:305390
Acquired Central Diabetes Insipidus	Weight loss	ORPHA:95626
Ritscher-Schinzel Syndrome 3	Postnatal growth retardation, Microphthalmia	OMIM:619135
Warburg Micro Syndrome 3	Postnatal growth retardation, Microphthalmia	OMIM:614222
Otodental Syndrome	Microphthalmia, Lens coloboma	ORPHA:2791
Farber Disease	Intrahepatic cholestasis with episodic jaundice, Thrombocytopenia, Lymphadenopathy, Hepatosplenom...	ORPHA:333
Manitoba Oculotrichoanal Syndrome	Microphthalmia, Anophthalmia	OMIM:248450
Ramon Syndrome	Hyperkeratosis, Decreased body weight	OMIM:266270
Celiac Disease, Susceptibility To, 1	Weight loss, Failure to thrive, Eczema, Steatorrhea	OMIM:212750
Idiopathic Bronchiectasis	Cachexia	ORPHA:60033
Trichothiodystrophy 4, Nonphotosensitive	Growth delay, Microphthalmia	OMIM:234050
Mosaic Variegated Aneuploidy Syndrome 7 With Inflammation And Tumor Predisposition	Hyperkeratosis	OMIM:620189
Thyrotoxic Periodic Paralysis, Susceptibility To, 2	Weight loss	OMIM:613239
Oculo-Palato-Cerebral Syndrome	Microphthalmia, Short stature, Intrauterine growth retardation	ORPHA:2714
Kapur-Toriello Syndrome	Microphthalmia, Intrauterine growth retardation	OMIM:244300
Immunodeficiency 31C	Impaired lymphocyte transformation with phytohemagglutinin, Hepatomegaly, Autoimmune hemolytic an...	OMIM:614162
Xfe Progeroid Syndrome	Failure to thrive, Ascites, Cachexia, Death in adolescence	OMIM:610965
Leprechaunism	Thickened skin, Hyperkeratosis, Hyperaldosteronism, Decreased body weight, Acanthosis nigricans, ...	ORPHA:508
Flynn-Aird Syndrome	Cachexia	ORPHA:2047
Polyarteritis Nodosa	Weight loss	ORPHA:767
Parkinson Disease 4, Autosomal Dominant	Weight loss	OMIM:605543
Cherubism	Submandibular lymph node enlargement	OMIM:118400
Chédiak-Higashi Syndrome	Abnormal leukocyte morphology, Pancytopenia, Splenomegaly, Thrombocytopenia, Vacuolated lymphocyt...	ORPHA:167
Norrie Disease	Hypoplasia of the iris, Microphthalmia, Buphthalmos	OMIM:310600
Primary Hepatic Neuroendocrine Carcinoma	Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Chronic noninfectious lymphadenopa...	ORPHA:100085
Curry-Jones Syndrome	Microphthalmia	ORPHA:1553
Lymphoid Interstitial Pneumonia	Failure to thrive, Skin rash, Eczema, Weight loss	ORPHA:79128
X-Linked Dominant Chondrodysplasia Punctata	Severe postnatal growth retardation, Microphthalmia, Short stature	ORPHA:35173
Vitreoretinochoroidopathy	Microphthalmia	OMIM:193220
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency	Microphthalmia	ORPHA:404440
Pancreatic Triacylglycerol Lipase Deficiency	Weight loss, Edema, Steatorrhea	ORPHA:309031
Microcephaly-Micromelia Syndrome	Microphthalmia, Intrauterine growth retardation	OMIM:251230
Classic Pantothenate Kinase-Associated Neurodegeneration	Weight loss	ORPHA:216866
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies	Microphthalmia, Short stature	OMIM:618571
Multiple Myeloma	Splenomegaly, Anemia, Lymphadenopathy	ORPHA:29073
Chromosome 1Q41-Q42 Deletion Syndrome	Microphthalmia, Short stature	OMIM:612530
Refractory Celiac Disease	Inflammatory abnormality of the skin, Weight loss	ORPHA:398063
Amoebiasis Due To Entamoeba Histolytica	Pleural effusion, Pleural empyema, Weight loss	ORPHA:67
Microphthalmia, Isolated, With Coloboma 9	Microphthalmia	OMIM:615145
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea	Hepatomegaly, Mediastinal lymphadenopathy, Leukocytosis, Cholestasis, Hilar lymph node enlargement	OMIM:620233
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria	Cachexia	ORPHA:1933
Congenital Fibrinogen Deficiency	Microphthalmia	ORPHA:335
Tetrasomy 12P	Cachexia	ORPHA:884
Alacrima, Achalasia, And Impaired Intellectual Development Syndrome	Hyperkeratosis	OMIM:615510
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome	Severe failure to thrive, Cachexia	ORPHA:371364
Warburg Micro Syndrome 2	Postnatal growth retardation, Microphthalmia	OMIM:614225
Frontorhiny	Encephalocele, Microphthalmia, Cranium bifidum occultum, Basal encephalocele	ORPHA:391474
Vacterl With Hydrocephalus	Microphthalmia, Anophthalmia, Spina bifida, Intrauterine growth retardation	ORPHA:3412
Marburg Hemorrhagic Fever	Skin rash, Maculopapular exanthema, Dehydration	ORPHA:99826
Arthrogryposis And Ectodermal Dysplasia	Hyperkeratosis	OMIM:601701
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome	Weight loss	ORPHA:79127
Frontonasal Dysplasia 2	Encephalocele, Microphthalmia, Intrauterine growth retardation	OMIM:613451
Neuroendocrine Tumor Of The Rectum	Hepatomegaly, Chronic noninfectious lymphadenopathy	ORPHA:100081
Neuroendocrine Tumor Of Anal Canal	Hepatomegaly, Chronic noninfectious lymphadenopathy	ORPHA:100082
Fanconi Anemia, Complementation Group F	Microphthalmia, Short stature, Intrauterine growth retardation	OMIM:603467
Symptomatic Form Of Hfe-Related Hemochromatosis	Joint swelling, Weight loss	ORPHA:465508
Mucoepithelial Dysplasia, Hereditary	Follicular hyperkeratosis, Chronic mucocutaneous candidiasis	OMIM:158310
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Cachexia	ORPHA:42
Chondrodysplasia Punctata, Autosomal Dominant	Hyperkeratosis with erythema	OMIM:118650
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9	Buphthalmos, Microphthalmia	OMIM:616538
Fabry Disease	Hyperkeratosis, Hyperlipidemia, Lymphedema	ORPHA:324
Refsum Disease	Microphthalmia	ORPHA:773
Cryptogenic Organizing Pneumonia	Weight loss	ORPHA:1302
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Hepatitis, Neutropenia in...	ORPHA:37042
Cohen Syndrome	Microphthalmia, Intrauterine growth retardation, Short stature, Delayed puberty	ORPHA:193
3P25.3 Microdeletion Syndrome	Microphthalmia	ORPHA:435638
Chromosome 13Q33-Q34 Deletion Syndrome	Encephalocele, Microphthalmia, Anencephaly, Short stature	OMIM:619148
Xeroderma Pigmentosum, Complementation Group B	Microphthalmia, Short stature	OMIM:610651
Incontinentia Pigmenti	Hyperkeratosis, Skin rash	ORPHA:464
Walker-Warburg Syndrome	Microphthalmia, Anophthalmia	ORPHA:899
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome	Microphthalmia, Anophthalmia, Rhizomelia	OMIM:615877
H Syndrome	Microcytic anemia, Histiocytosis, Lymphadenopathy, Hepatosplenomegaly	ORPHA:168569
Kapur-Toriello Syndrome	Microphthalmia	ORPHA:2328
Perry Syndrome	Weight loss	OMIM:168605
Galloway-Mowat Syndrome 3	Microphthalmia, Short stature, Intrauterine growth retardation	OMIM:617729
Incontinentia Pigmenti	Hyperkeratosis, Maculopapular exanthema	OMIM:308300
Acrodermatitis Enteropathica	Pustule, Failure to thrive, Weight loss	ORPHA:37
Erdheim-Chester Disease	Skin rash, Weight loss, Joint swelling, Xanthelasma, Pleural effusion	ORPHA:35687
Familial Exudative Vitreoretinopathy	Microphthalmia	ORPHA:891
Thymoma	Scleroderma, Weight loss	ORPHA:99867
Xeroderma Pigmentosum	Hyperkeratosis, Thickened skin, Failure to thrive	ORPHA:910
Pelvis-Shoulder Dysplasia	Short stature, Spina bifida, Mesomelic/rhizomelic limb shortening, Bilateral microphthalmos, Neon...	ORPHA:2839
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes	Xerostomia, Cachexia	OMIM:175500
Spondyloenchondrodysplasia With Immune Dysregulation	Autoimmune thrombocytopenia, Lymphadenopathy, T lymphocytopenia, Neutropenia, Lymphopenia	OMIM:607944
Selective Igm Deficiency	Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Lymphadenitis, Decreas...	ORPHA:331235
Pelizaeus-Merzbacher Disease	Failure to thrive in infancy, Cachexia	ORPHA:702
Insulin-Resistance Syndrome Type B	Skin rash, Abnormality of body weight, Increased body weight, Weight loss, Decreased body weight,...	ORPHA:2298
Microphthalmia, Syndromic 3	Optic nerve aplasia, Anophthalmia, Short stature, Optic nerve hypoplasia, Postnatal growth retard...	OMIM:206900
Oromandibular Dystonia	Weight loss	ORPHA:93958
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis	Lymphadenopathy, Anemia, Hepatosplenomegaly	ORPHA:85408
Rat-Bite Fever	Skin rash, Maculopapular exanthema, Erythema nodosum, Pustule, Weight loss, Morbilliform rash	ORPHA:31205
Martsolf Syndrome 1	Microphthalmia, Short stature	OMIM:212720
Laryngotracheoesophageal Cleft Type 4	Cachexia	ORPHA:93941
Loeffler Endocarditis	Weight loss	ORPHA:75566
Chondrodysplasia Punctata 2, X-Linked Dominant	Postnatal growth retardation, Microphthalmia, Rhizomelia	OMIM:302960
Al Amyloidosis	Peripheral edema, Xerostomia, Weight loss	ORPHA:85443
Familial Glucocorticoid Deficiency	Decreased circulating cortisol level, Failure to thrive, Weight loss	ORPHA:361
Fatal Familial Insomnia	Weight loss	OMIM:600072
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies	Microphthalmia	OMIM:620098
Diffuse Alveolar Hemorrhage	Weight loss	ORPHA:90060
Igg4-Related Aortitis	Weight loss	ORPHA:449400
Adams-Oliver Syndrome	Encephalocele, Microphthalmia	ORPHA:974
X-Linked Intellectual Disability, Cabezas Type	Acanthosis nigricans, Obesity, Cachexia	ORPHA:85293
Galloway-Mowat Syndrome 1	Hypoplasia of the iris, Microphthalmia, Short stature, Intrauterine growth retardation	OMIM:251300
Oculodentodigital Dysplasia, Autosomal Recessive	Microphthalmia, Short stature	OMIM:257850
1Q21.1 Microdeletion Syndrome	Microphthalmia, Short stature, Intrauterine growth retardation	ORPHA:250989
Neuroblastoma, Susceptibility To, 1	Failure to thrive, Weight loss	OMIM:256700
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome	Splenomegaly, Leukocytosis, Peritonitis, Lymphadenopathy	ORPHA:32960
Mosaic Trisomy 9	Microphthalmia, Spina bifida, Intrauterine growth retardation	ORPHA:99776
Oculofaciocardiodental Syndrome	Microphthalmia	ORPHA:2712
Bronchial Neuroendocrine Tumor	Increased circulating cortisol level, Weight loss	ORPHA:97287
Stevens-Johnson Syndrome	Weight loss, Acantholysis	ORPHA:36426
3Q29 Microduplication Syndrome	Aniridia, Microphthalmia	ORPHA:251038
Inflammatory Pseudotumor Of The Liver	Weight loss	ORPHA:90003
Glucagonoma	Skin rash, Pruritus, Weight loss, Increased circulating cortisol level, Steatorrhea, Ascites	ORPHA:97280
Persistent Hyperplastic Primary Vitreous	Buphthalmos, Microphthalmia, Phthisis bulbi, Macular hypoplasia	ORPHA:91495
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2	Buphthalmos, Microphthalmia, Encephalocele	OMIM:613150
Tetraamelia-Multiple Malformations Syndrome	Microphthalmia, Septo-optic dysplasia	ORPHA:3301
Basel-Vanagaite-Smirin-Yosef Syndrome	Microphthalmia	OMIM:616449
Nance-Horan Syndrome	Microphthalmia	OMIM:302350
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)	Death in early adulthood, Slender build, Cachexia, Weight loss	OMIM:603041
Trisomy 18	Short stature, Spina bifida, Anencephaly, Growth delay, Microphthalmia, Intrauterine growth retar...	ORPHA:3380
Malignant Atrophic Papulosis	Pleural effusion, Weight loss	ORPHA:679
Juvenile Dermatomyositis	Pruritus, Skin rash, Palpebral edema, Weight loss	ORPHA:93672
Subcutaneous Panniculitis-Like T-Cell Lymphoma	Weight loss	ORPHA:86884
Caroli Disease	Pruritus, Ascites, Weight loss	ORPHA:53035
Toxic Epidermal Necrolysis	Weight loss, Acantholysis	ORPHA:537
Igg4-Related Submandibular Gland Disease	Eosinophilia, Cholangitis, Retroperitoneal fibrosis, Abnormal pancreas morphology, Lymphadenopathy	ORPHA:449432
Eosinophilic Granulomatosis With Polyangiitis	Skin rash, Weight loss	ORPHA:183
Aredyld Syndrome	Cachexia	ORPHA:1133
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome	Cachexia, Steatorrhea	ORPHA:3217
Microphthalmia, Lenz Type	Microphthalmia, Short stature	ORPHA:568
Aicardi-Goutieres Syndrome 7	Skin rash, Chilblains, Edema, Pericardial effusion, Atopic dermatitis, Weight loss, Oligohydramnios	OMIM:615846
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2	Follicular hyperkeratosis, Polyhydramnios	OMIM:614557
6Q Terminal Deletion Syndrome	Hyperkeratosis, Failure to thrive, Obesity	ORPHA:75857
Polycythemia Vera	Pruritus, Weight loss	ORPHA:729
Koolen-De Vries Syndrome Due To A Point Mutation	Small for gestational age, Eczema, Hyperkeratosis, Ichthyosis, Slender build	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Small for gestational age, Eczema, Hyperkeratosis, Ichthyosis, Slender build	ORPHA:363958
Hennekam Syndrome	Splenomegaly, Pulmonary lymphangiectasia, Lymphadenopathy, Lymphangioma, Lymphopenia	ORPHA:2136
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive	Buphthalmos, Microphthalmia, Phthisis bulbi	OMIM:221900
Lynch Syndrome	Death in infancy, Death in early adulthood, Weight loss	ORPHA:144
Kindler Epidermolysis Bullosa	Hyperkeratosis, Palmoplantar keratoderma, Recurrent skin infections	ORPHA:2908
Familial Mediterranean Fever	Splenomegaly, Peritonitis, Pancreatitis, Lymphadenopathy	ORPHA:342
Igg4-Related Retroperitoneal Fibrosis	Deep dermal perivascular inflammatory infiltrate, Psoriasiform dermatitis, Pedal edema, Weight loss	ORPHA:49041
Chromosome 8Q21.11 Deletion Syndrome	Growth delay, Microphthalmia	OMIM:614230
Idiopathic Hypereosinophilic Syndrome	Generalized lymphadenopathy, Neutrophilia, Cholangitis, Eosinophilia, Splenomegaly, Cervical lymp...	ORPHA:3260
Fanconi Anemia, Complementation Group C	Microphthalmia, Short stature, Intrauterine growth retardation	OMIM:227645
Whipple Disease	Cachexia, Pedal edema	ORPHA:3452
Short Syndrome	Weight loss	ORPHA:3163
Polymyositis	Weight loss	ORPHA:732
Eec Syndrome	Hyperkeratosis, Xerostomia	ORPHA:1896
Encephalocraniocutaneous Lipomatosis	Hypoplasia of the iris, Microphthalmia	OMIM:613001
19Q13.11 Microdeletion Syndrome	Failure to thrive, Cachexia	ORPHA:217346
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Death in infancy, Hyperkeratosis, Stillbirth, Death in childhood, Failure to thrive, Oligohydramnios	OMIM:210710
8P23.1 Microdeletion Syndrome	Obesity, Weight loss	ORPHA:251071
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome	Microphthalmia, Intrauterine growth retardation	ORPHA:364577
Late-Onset Isolated Acth Deficiency	Decreased circulating cortisol level, Failure to thrive, Weight loss	ORPHA:199299
Dubowitz Syndrome	Short stature, Postnatal growth retardation, Hypoplasia of the iris, Microphthalmia, Intrauterine...	OMIM:223370
Kenny-Caffey Syndrome, Type 2	Microphthalmia, Severe short stature, Short stature	OMIM:127000
Chime Syndrome	Hyperkeratosis, Ichthyosis	ORPHA:3474
Anemia, Congenital Dyserythropoietic, Type Iv	Hydrops fetalis, Weight loss	OMIM:613673
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb	Short stature, Unilateral microphthalmos	OMIM:618874
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Parakeratosis, Superficial dermal perivascular inflammatory infiltrate, Eczema, Seborrheic dermat...	ORPHA:83617
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Encephalocele, Microphthalmia, Optic nerve hypoplasia	OMIM:614643
Ileal Neuroendocrine Tumor	Iron deficiency anemia, Extrahepatic cholestasis, Lymphadenopathy	ORPHA:100078
Oculoauricular Syndrome	Phthisis bulbi, Macular hypoplasia, Microphakia, Microphthalmia, Spina bifida occulta	OMIM:612109
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Encephalocele, Microphthalmia	OMIM:253800
Imerslund-Gräsbeck Syndrome	Failure to thrive, Weight loss	ORPHA:35858
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Microphthalmia, Severe short stature, Rhizomelia	ORPHA:85167
Somatostatinoma	Weight loss, Increased circulating cortisol level, Ascites, Steatorrhea	ORPHA:97283
Coccidioidomycosis	Eosinophilia, Abnormality of the spleen, Mediastinal lymphadenopathy, Peritonitis, Lymphadenopath...	ORPHA:228123
Hemihyperplasia-Multiple Lipomatosis Syndrome	Hyperparakeratosis, Seborrheic dermatitis	ORPHA:276280
Pseudotrisomy 13 Syndrome	Encephalocele, Microphthalmia	OMIM:264480
Restrictive Dermopathy 1	Polyhydramnios, Epidermal hyperkeratosis, Stillbirth, Neonatal death, Oligohydramnios	OMIM:275210
Mucolipidosis Type Ii	Thickened skin, Weight loss, Oligohydramnios	ORPHA:576
Silver-Russell Syndrome	Failure to thrive in infancy, Obesity, Cachexia	ORPHA:813
Papillorenal Syndrome	Microphthalmia, Short stature	OMIM:120330
Brucellosis	Hepatomegaly, Liver abscess, Hypersplenism, Splenomegaly, Leukocytosis, Thrombocytopenia, Lymphad...	ORPHA:1304
Alveolar Echinococcosis	Weight loss, Pedal edema, Cutaneous abscess	ORPHA:284
Curry-Jones Syndrome	Occipital meningocele, Microphthalmia, Lipomyelomeningocele	OMIM:601707
Joubert Syndrome 2	Encephalocele, Microphthalmia	OMIM:608091
Fanconi Anemia, Complementation Group L	Growth delay, Microphthalmia, Intrauterine growth retardation	OMIM:614083
Cousin Syndrome	Hydranencephaly, Microphthalmia, Disproportionate short stature, Rhizomelia	OMIM:260660
Skin Creases, Congenital Symmetric Circumferential, 1	Microphthalmia	OMIM:156610
Fanconi Anemia, Complementation Group E	Microphthalmia, Short stature	OMIM:600901
Oculogastrointestinal Muscular Dystrophy	Cachexia	ORPHA:1876
Ppoma	Increased circulating cortisol level, Ascites, Weight loss	ORPHA:97278
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Occipital encephalocele, Optic nerve hypoplasia, Meningoencephalocele, Buphthalmos, Microphthalmia	OMIM:236670
Lymphangioleiomyomatosis	Pulmonary lymphangiomyomatosis, Abnormality of the lymphatic system, Lymphadenopathy	ORPHA:538
Meckel Syndrome 14	Microphthalmia, Occipital encephalocele	OMIM:619879
Neuroendocrine Tumor Of Stomach	Iron deficiency anemia, Chronic noninfectious lymphadenopathy, Hepatomegaly	ORPHA:100075
Duane-Radial Ray Syndrome	Microphthalmia, Spina bifida occulta, Optic disc hypoplasia	OMIM:607323
Jacobsen Syndrome	Microphthalmia, Macular hypoplasia, Intrauterine growth retardation	OMIM:147791
Pyomyositis	Recurrent cutaneous abscess formation, Weight loss	ORPHA:764
Familial Hyperthyroidism Due To Mutations In Tsh Receptor	Small for gestational age, Weight loss	ORPHA:424
Solitary Fibrous Tumor	Weight loss	ORPHA:2126
Fanconi Anemia, Complementation Group A	Microphthalmia, Short stature	OMIM:227650
Cat Eye Syndrome	Microphthalmia, Umbilical hernia, Short stature	OMIM:115470
Linear Nevus Sebaceus Syndrome	Growth delay, Microphthalmia	ORPHA:2612
Focal Dermal Hypoplasia	Hypoplasia of the iris, Microphthalmia, Umbilical hernia, Spina bifida	ORPHA:2092
Autosomal Dominant Kenny-Caffey Syndrome	Short stature, Postnatal growth retardation, Bilateral microphthalmos, Growth delay, Intrauterine...	ORPHA:93325
X-Linked Creatine Transporter Deficiency	Cachexia	ORPHA:52503
Sporadic Pheochromocytoma/Secreting Paraganglioma	Weight loss	ORPHA:276621
Momo Syndrome	Bilateral microphthalmos, Short stature	ORPHA:2563
Infantile Krabbe Disease	Failure to thrive, Cachexia	ORPHA:206436
Pallister-Hall Syndrome	Microphthalmia, Short stature, Intrauterine growth retardation	OMIM:146510
Xeroderma Pigmentosum, Complementation Group D	Microphthalmia	OMIM:278730
Monosomy 13Q14	Microphthalmia, Short stature, Intrauterine growth retardation	ORPHA:1587
8Q21.11 Microdeletion Syndrome	Microphthalmia	ORPHA:284160
De Sanctis-Cacchione Syndrome	Parakeratosis	OMIM:278800
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies	Microphthalmia	OMIM:618727
Giant Cell Arteritis	Weight loss	ORPHA:397
2Q31.1 Microdeletion Syndrome	Microphthalmia, Short stature	ORPHA:251014
Acrofrontofacionasal Dysostosis 1	Microphthalmia, Short stature	OMIM:201180
Mosaic Variegated Aneuploidy Syndrome	Growth delay, Microphthalmia, Short stature, Intrauterine growth retardation	ORPHA:1052
3Q29 Microdeletion Syndrome	Microphthalmia	ORPHA:65286
Autosomal Recessive Malignant Osteopetrosis	Hepatomegaly, Splenomegaly, Anemia, Lymphadenopathy	ORPHA:667
Juvenile Amyotrophic Lateral Sclerosis	Cachexia	ORPHA:300605
Teebi-Shaltout Syndrome	Microphthalmia, Short stature	OMIM:272950
Systemic Lupus Erythematosus	Leukopenia, Hemolytic anemia, Thrombocytopenia, Lymphadenopathy	ORPHA:536
Mosaic Trisomy 1	Microphthalmia	ORPHA:1692
Immunodeficiency 82 With Systemic Inflammation	Decreased proportion of naive T cells, Follicular hyperplasia, Splenomegaly, Hepatitis, Lymphaden...	OMIM:619381
Hallermann-Streiff Syndrome	Microphthalmia, Proportionate short stature, Spina bifida	OMIM:234100
Phace Association	Microphthalmia, Optic nerve hypoplasia	OMIM:606519
Glossopharyngeal Neuralgia	Weight loss	ORPHA:221098
Fryns-Smeets-Thiry Syndrome	Cachexia	ORPHA:2058
Gerstmann-Straussler Disease	Weight loss	OMIM:137440
Rett Syndrome	Cachexia	OMIM:312750
Linear Skin Defects With Multiple Congenital Anomalies 3	Microphthalmia	OMIM:300952
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Encephalocele, Microphthalmia, Rhizomelia	OMIM:616300
Blepharophimosis, Ptosis, And Epicanthus Inversus	Microphthalmia	OMIM:110100
Grfoma	Increased circulating cortisol level, Ascites, Weight loss	ORPHA:97261
Carney-Stratakis Syndrome	Weight loss	ORPHA:97286
Stromme Syndrome	Microphthalmia, Optic nerve hypoplasia	OMIM:243605
Atypical Werner Syndrome	Hyperkeratosis, Failure to thrive, Hypertriglyceridemia, Decreased body weight	ORPHA:79474
Basel-Vanagaite-Smirin-Yosef Syndrome	Microphthalmia	ORPHA:464738
Holoprosencephaly	Encephalocele, Anophthalmia, Spinal dysraphism, Branchial anomaly, Microphthalmia	ORPHA:2162
Cystic Echinococcosis	Weight loss	ORPHA:400
Pierson Syndrome	Rieger anomaly, Hypoplasia of the ciliary body, Hypoplasia of the iris, Macular hypoplasia, Micro...	OMIM:609049
Acute Adrenal Insufficiency	Decreased circulating cortisol level, Failure to thrive, Weight loss	ORPHA:95409
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Hyperkeratosis, Failure to thrive, Eczema, Ichthyosis	ORPHA:2273
Bannayan-Riley-Ruvalcaba Syndrome	Cachexia, Lymphedema	ORPHA:109
Fryns Syndrome	Microphthalmia	ORPHA:2059
Isolated Arrhinia	Microphthalmia	ORPHA:1134
Cowden Syndrome	Failure to thrive, Palmoplantar keratoderma, Generalized hyperkeratosis	ORPHA:201
Malakoplakia	Follicular hyperplasia	ORPHA:556
Ohdo Syndrome, X-Linked	Microphthalmia	OMIM:300895
Acro-Renal-Ocular Syndrome	Postnatal growth retardation, Microphthalmia, Optic disc hypoplasia	ORPHA:959
Primary Sclerosing Cholangitis	Pruritus, Pleural effusion, Ascites, Weight loss	ORPHA:171
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome	Microphthalmia, Anophthalmia	ORPHA:2250
Cockayne Syndrome B	Severe short stature, Postnatal growth retardation, Hypoplasia of the iris, Microphthalmia, Intra...	OMIM:133540
Dermatomyositis	Periorbital edema, Weight loss, Edema, Pruritus	ORPHA:221
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3	Hyperkeratosis, Xerostomia	OMIM:604292
Warburg-Cinotti Syndrome	Joint swelling, Follicular hyperkeratosis	OMIM:618175
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Microphthalmia, Severe postnatal growth retardation, Intrauterine growth retardation	OMIM:620005
Xeroderma Pigmentosum-Cockayne Syndrome Complex	Skin rash, Cachexia	ORPHA:220295
Monosomy 9Q22.3	Microphthalmia, Umbilical hernia	ORPHA:77301
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart	Microphthalmia, Short stature, Intrauterine growth retardation	OMIM:616975
Congenital Fiber-Type Disproportion Myopathy	Failure to thrive, Polyhydramnios, Weight loss	ORPHA:2020
Sarcoidosis	Hemolytic anemia, Hepatomegaly, Eosinophilia, Portal hypertension, Thrombocytopenia, Increased T ...	ORPHA:797
X-Linked Alport Syndrome-Diffuse Leiomyomatosis	Failure to thrive, Weight loss	ORPHA:1018
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1	Hyperkeratosis, Xerostomia	OMIM:129900
Autoimmune Pulmonary Alveolar Proteinosis	Weight loss	ORPHA:747
Crimean-Congo Hemorrhagic Fever	Hepatomegaly, Acute pancreatitis, Neutrophilia, Pancytopenia, Splenomegaly, Leukocytosis, Jaundic...	ORPHA:99827
Holoprosencephaly 9	Microphthalmia, Anophthalmia, Short stature, Optic nerve hypoplasia	OMIM:610829
Primary Sjögren Syndrome	Normocytic anemia, Chronic active hepatitis, Biliary cirrhosis, Lymphadenopathy, Chronic hepatiti...	ORPHA:289390
Schwartz-Jampel Syndrome	Cachexia, Death in infancy, Polyhydramnios, Decreased body weight	ORPHA:800
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome	Microphthalmia	ORPHA:1236
Holoprosencephaly-Postaxial Polydactyly Syndrome	Encephalocele, Microphthalmia, Umbilical hernia	ORPHA:2166
Hereditary Pheochromocytoma-Paraganglioma	Weight loss	ORPHA:29072
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Microphthalmia, Short stature, Optic nerve hypoplasia, Spina bifida	ORPHA:508498
Familial Colorectal Cancer Type X	Weight loss	ORPHA:440437
Simple Cryoglobulinemia	Weight loss	ORPHA:91139
Sarcoidosis, Susceptibility To, 1	Hepatomegaly, Pancytopenia, Generalized lymphadenopathy, Splenomegaly, Mediastinal lymphadenopathy	OMIM:181000
Fanconi Anemia	Short stature, Spina bifida, Aplasia/Hypoplasia of the iris, Growth delay, Umbilical hernia, Micr...	ORPHA:84
Atelis Syndrome 2	Microphthalmia	OMIM:620185
Basal Cell Nevus Syndrome 1	Microphthalmia, Spina bifida	OMIM:109400
Igg4-Related Ophthalmic Disease	Eosinophilia, Cholangitis, Retroperitoneal fibrosis, Lymphadenopathy, Pancreatitis	ORPHA:449563
Familial Gestational Hyperthyroidism	Weight loss	ORPHA:99819
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis	Weight loss	OMIM:607459
Meckel Syndrome	Encephalocele, Anophthalmia, Anencephaly, Aplasia/Hypoplasia of the iris, Microphthalmia	ORPHA:564
Lymphedema-Distichiasis Syndrome	Microphthalmia	OMIM:153400
Microgastria-Limb Reduction Defect Syndrome	Growth delay, Microphthalmia, Anophthalmia	ORPHA:2538
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2	Perianal abscess, Skin rash, Weight loss	OMIM:301074
Chronic Graft Versus Host Disease	Thickened skin, Xerostomia, Weight loss, Pleural effusion, Ascites, Morphea	ORPHA:99921
Kawasaki Disease	Leukocytosis, Cervical lymphadenopathy, Jaundice, Hepatitis, Cholecystitis	ORPHA:2331
Roberts Syndrome	Postnatal growth retardation, Microphthalmia, Severe intrauterine growth retardation	ORPHA:3103
Rothmund-Thomson Syndrome, Type 2	Microphthalmia, Short stature	OMIM:268400
Fanconi Anemia, Complementation Group D2	Microphthalmia, Short stature	OMIM:227646
Bartsocas-Papas Syndrome 1	Microphthalmia, Intrauterine growth retardation	OMIM:263650
Chikungunya	Cervical lymphadenopathy, Lymphadenopathy	ORPHA:324625
Trichothiodystrophy	Umbilical hernia, Bilateral microphthalmos, Intrauterine growth retardation	ORPHA:33364
Myhre Syndrome	Birth length less than 3rd percentile, Microphthalmia, Short stature, Intrauterine growth retarda...	OMIM:139210
Hallermann-Streiff Syndrome	Microphthalmia, Proportionate short stature	ORPHA:2108
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1	Follicular hyperkeratosis	OMIM:225400
Mycophenolate Mofetil Embryopathy	Microphthalmia	ORPHA:268249
Osteoporosis-Pseudoglioma Syndrome	Microphthalmia, Phthisis bulbi, Short stature	OMIM:259770
Hereditary Late-Onset Parkinson Disease	Weight loss	ORPHA:411602
Linear Skin Defects With Multiple Congenital Anomalies 1	Microphthalmia, Short stature	OMIM:309801
Neuroendocrine Neoplasm Of Appendix	Hepatomegaly, Chronic noninfectious lymphadenopathy	ORPHA:100079
Microcephaly-Lymphedema-Chorioretinopathy Syndrome	Microphthalmia, Severe short stature, Anophthalmia	ORPHA:2526
Igg4-Related Kidney Disease	Eosinophilia, Retroperitoneal fibrosis, Lymphadenitis, Abnormal mesentery morphology, Lymphadenop...	ORPHA:449395
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome	Orthokeratotic hyperkeratosis, Epidermal thickening, Thickened skin	ORPHA:73223
Behçet Disease	Splenomegaly, Pancreatitis, Lymphadenopathy	ORPHA:117
Treacher-Collins Syndrome	Encephalocele, Microphthalmia, Branchial fistula	ORPHA:861
22Q11.2 Deletion Syndrome	Short stature, Spina bifida, Meningocele, Occipital myelomeningocele, Umbilical hernia, Microphth...	ORPHA:567
Aicardi Syndrome	Postnatal growth retardation, Microphthalmia, Spina bifida	OMIM:304050
Igg4-Related Dacryoadenitis And Sialadenitis	Retroperitoneal fibrosis, Thrombocytopenia, Lymphadenopathy	ORPHA:79078
Restrictive Dermopathy	Generalized hyperkeratosis, Polyhydramnios, Epidermal hyperkeratosis	ORPHA:1662
Granulomatosis With Polyangiitis	Periorbital edema, Skin rash, Weight loss	ORPHA:900
Microphthalmia With Limb Anomalies	Microphthalmia, Short stature, True anophthalmia	ORPHA:1106
Cushing Syndrome Due To Ectopic Acth Secretion	Acne, Paradoxical increased cortisol secretion on dexamethasone suppression test, Increased body ...	ORPHA:99889
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome	Branchial cyst, Microphthalmia, Short stature, Intrauterine growth retardation	OMIM:620186
Aicardi Syndrome	Microphthalmia, Delayed puberty	ORPHA:50
Pulmonary Alveolar Microlithiasis	Peripheral edema, Weight loss	ORPHA:60025
Meckel Syndrome, Type 1	Occipital encephalocele, Large placenta, Anencephaly, Microphthalmia, Intrauterine growth retarda...	OMIM:249000
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency	Intrauterine growth retardation, Severe short stature, Bilateral microphthalmos, Optic nerve hypo...	ORPHA:468631
Leprosy	Hyperkeratosis	ORPHA:548
Granulomatosis With Polyangiitis	Weight loss	OMIM:608710
Mend Syndrome	Microphthalmia, Short stature	ORPHA:401973
Blau Syndrome	Splenomegaly, Abnormality of the liver, Anemia, Lymphadenopathy	ORPHA:90340
Addison Disease	Decreased circulating cortisol level, Failure to thrive, Weight loss	ORPHA:85138
Steinfeld Syndrome	Microphthalmia	OMIM:184705
Charge Syndrome	Anophthalmia, Short stature, Postnatal growth retardation, Delayed puberty, Microphthalmia, Intra...	ORPHA:138
Robin Sequence With Distinctive Facial Appearance And Brachydactyly	Microphthalmia, Intrauterine growth retardation	OMIM:608670
Histiocytoid Cardiomyopathy	Microphthalmia, Congenital aphakia	ORPHA:137675
Kyphoscoliotic Ehlers-Danlos Syndrome	Follicular hyperkeratosis	ORPHA:536545
Renal Nutcracker Syndrome	Weight loss	ORPHA:71273
Holoprosencephaly 7	Occipital meningocele, Microphthalmia, Bilateral microphthalmos	OMIM:610828
Proteus Syndrome	Thickened skin, Generalized hyperkeratosis, Cachexia, Lymphedema	ORPHA:744
Cockayne Syndrome Type 3	Microphthalmia, Mild postnatal growth retardation	ORPHA:90324
Oculodentodigital Dysplasia	Microphthalmia	OMIM:164200
Tsh-Secreting Pituitary Adenoma	Pericardial effusion, Weight loss	ORPHA:91347
Thyrotoxic Periodic Paralysis	Obesity, Weight loss	ORPHA:79102
Proteasome-Associated Autoinflammatory Syndrome 1	Hepatomegaly, Microcytic anemia, Splenomegaly, Lymphadenopathy, Thrombocytopenia	OMIM:256040
Nocardiosis	Pleural effusion, Weight loss, Cutaneous abscess	ORPHA:31204
Leptospirosis	Hepatomegaly, Jaundice, Hepatitis, Lymphadenopathy, Thrombocytopenia	ORPHA:509
Cockayne Syndrome	Severe short stature, Postnatal growth retardation, Growth delay, Delayed puberty, Microphthalmia	ORPHA:191
Chromosome 13Q14 Deletion Syndrome	Growth delay, Microphthalmia, Umbilical hernia	OMIM:613884
Fraser Syndrome 2	Microphthalmia	OMIM:617666
Microphthalmia With Linear Skin Defects Syndrome	Growth delay, Microphthalmia, Severe short stature, Anophthalmia	ORPHA:2556
Tropical Pancreatitis	Weight loss	ORPHA:103918
Frontofacionasal Dysplasia	Cranium bifidum occultum, Microphthalmia	OMIM:229400
Riddle Syndrome	Weight loss	ORPHA:420741
Zollinger-Ellison Syndrome	Increased circulating cortisol level, Weight loss	ORPHA:913
Neu-Laxova Syndrome 1	Spina bifida, Short umbilical cord, Small placenta, Hydranencephaly, Microphthalmia, Intrauterine...	OMIM:256520
Phace Syndrome	Microphthalmia, Lens coloboma, Optic nerve hypoplasia	ORPHA:42775
Fontaine Progeroid Syndrome	Microphthalmia, Umbilical hernia, Short stature, Intrauterine growth retardation	OMIM:612289
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Microphthalmia	OMIM:617925
Microphthalmia, Syndromic 2	Anophthalmia, Short stature, Phthisis bulbi, Umbilical hernia, Microphthalmia	OMIM:300166
Skin Creases, Congenital Symmetric Circumferential, 2	Microphthalmia, Short stature	OMIM:616734
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs	Microphthalmia	OMIM:601552
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Microphthalmia	OMIM:609945
Postinfectious Vasculitis	Inflammatory abnormality of the skin, Weight loss	ORPHA:48435
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome	Cranium bifidum occultum, Microphthalmia	ORPHA:306542
Degcags Syndrome	Microphthalmia, Intrauterine growth retardation	OMIM:619488
Seckel Syndrome	Cachexia	ORPHA:808
Monosomy 9P	Microphthalmia	ORPHA:261112
Focal Dermal Hypoplasia	Anophthalmia, Short stature, Myelomeningocele, Umbilical hernia, Aniridia, Microphthalmia, Spina ...	OMIM:305600
Yunis-Varon Syndrome	Postnatal growth retardation, Microphthalmia, Bilateral microphthalmos, Short stature	ORPHA:3472
Oculopharyngodistal Myopathy 1	Weight loss	OMIM:164310
African Trypanosomiasis	Pruritus, Miscarriage, Abnormality of circulating cortisol level, Weight loss	ORPHA:3385
Fryns Syndrome	Microphthalmia	OMIM:229850
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Buphthalmos, Microphthalmia, Hypoplasia of the retina	OMIM:253280
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome	Microphthalmia	ORPHA:3186
Bosma Arhinia Microphthalmia Syndrome	Microphthalmia	OMIM:603457
Fraser Syndrome	Encephalocele, Anophthalmia, Myelomeningocele, Umbilical hernia, Microphthalmia	ORPHA:2052
Proboscis Lateralis	Microphthalmia, Anophthalmia, Optic nerve hypoplasia	ORPHA:141099
Tubulointerstitial Nephritis And Uveitis Syndrome	Weight loss, Skin rash, Cystoid macular edema, Macular edema	ORPHA:91500
Neuroocular Syndrome	Hypoplasia of the fovea, Short stature, Lens coloboma, Umbilical hernia, Microphthalmia	OMIM:619539
Holoprosencephaly 1	Microphthalmia, Short stature	OMIM:236100
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome	Cachexia	ORPHA:1969
Hydrolethalus Syndrome 1	Microphthalmia, Anencephaly, Intrauterine growth retardation	OMIM:236680
Renpenning Syndrome 1	Microphthalmia, Short stature	OMIM:309500
Adams-Oliver Syndrome 1	Encephalocele, Microphthalmia	OMIM:100300
Parathyroid Carcinoma	Weight loss	ORPHA:143
Lowe Oculocerebrorenal Syndrome	Postnatal growth retardation, Microphthalmia, Short stature	OMIM:309000
Witteveen-Kolk Syndrome	Branchial fistula, Short stature, Growth delay, Microphthalmia, Intrauterine growth retardation	OMIM:613406
8Q24.3 Microdeletion Syndrome	Branchial cyst, Infancy onset short-trunk short stature, Short stature, Optic nerve hypoplasia, B...	ORPHA:508488
Charge Syndrome	Anophthalmia, Postnatal growth retardation, Unilateral microphthalmos, Umbilical hernia, Delayed ...	OMIM:214800
Tetraamelia Syndrome 1	Microphthalmia	OMIM:273395
Branchiooculofacial Syndrome	Anophthalmia, Postnatal growth retardation, Branchial anomaly, Microphthalmia, Intrauterine growt...	OMIM:113620
Juvenile Polyposis Of Infancy	Cachexia	ORPHA:79076
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb	Microphthalmia	OMIM:612474
Nijmegen Breakage Syndrome	Cachexia	ORPHA:647
Pallister-Hall Syndrome	Microphthalmia, Umbilical hernia, Short stature, Intrauterine growth retardation	ORPHA:672
Fraser Syndrome 1	Encephalocele, Myelomeningocele, Anophthalmia, Bilateral microphthalmos	OMIM:219000
Tropical Endomyocardial Fibrosis	Cachexia, Peripheral edema, Ascites, Pedal edema	ORPHA:75565
Norrie Disease	Hypoplasia of the iris, Microphthalmia, Aplasia/Hypoplasia of the lens, Delayed puberty	ORPHA:649
Hutchinson-Gilford Progeria Syndrome	Severe failure to thrive, Weight loss	ORPHA:740
Marfan Syndrome	Slender build, Cachexia	ORPHA:558
Camurati-Engelmann Disease	Slender build, Cachexia	ORPHA:1328
Choreoacanthocytosis	Weight loss	ORPHA:2388
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Cachexia	ORPHA:2072
Stickler Syndrome	Slender build, Cachexia	ORPHA:828
Roberts-Sc Phocomelia Syndrome	Postnatal growth retardation, Microphthalmia, Frontal encephalocele, Severe intrauterine growth r...	OMIM:268300
Mowat-Wilson Syndrome	Microphthalmia, Short stature	OMIM:235730
Microphthalmia, Syndromic 6	Microphthalmia, Anophthalmia	OMIM:607932
Townes-Brocks Syndrome	Microphthalmia, Short stature, Delayed puberty	ORPHA:857
Treacher Collins Syndrome 1	Bilateral microphthalmos	OMIM:154500
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies	Hypoplasia of the iris, Microphthalmia	OMIM:175780
Holoprosencephaly 2	Microphthalmia	OMIM:157170
Mowat-Wilson Syndrome	Growth delay, Microphthalmia, Short stature	ORPHA:2152
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Microphthalmia, Short stature	ORPHA:261537
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Microphthalmia, Short stature	ORPHA:261552
Goodpasture Syndrome	Weight loss	OMIM:233450
Craniofacial Microsomia 1	Microphthalmia, Occipital encephalocele, Anophthalmia, Branchial anomaly	OMIM:164210
Microphthalmia, Syndromic 1	Growth delay, Microphthalmia, Anophthalmia	OMIM:309800

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Aloxe3

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

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Aloxe3.

No publications found that use IMPC mice or data for Aloxe3.

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All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele	Allele Type	Produced
Aloxe3^{tm2a(KOMP)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Aloxe3^{tm1a(KOMP)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Aloxe3^em1(IMPC)Mbp	Exon Deletion	Mice, Tissue
Aloxe3^{tm1e(KOMP)Wtsi}	Targeted, non-conditional allele	ES Cells
Aloxe3^{tm299258(L1L2_Bact_P)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors
Aloxe3^{tm2e(KOMP)Wtsi}	Targeted, non-conditional allele	ES Cells

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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Gene: Aloxe3 MGI:1345140

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

X-ray

MicroCT E14.5-E15.5

X-ray

Gross Morphology Embryo E14.5-E15.5

Human diseases caused by Aloxe3 mutations

Histopathology

IMPC related publications

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Access Data Release 20.1 Data