Genes Phenotypes Help, News, Blog

Please enable javascript if you want to log in to follow or stop following this gene.

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

Download data as: TSV XLS

Select physiological systems to view:

Viewing: all phenotypes

Select physiological systems to view:

Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Whole Body Dorso Ventral

80 Images

View images

X-ray

XRay Images Whole Body Lateral Orientation

40 Images

View images

MicroCT E14.5-E15.5

Embryo reconstruction

8 Images

View images

Gross Morphology Embryo E14.5-E15.5

Images

14 Images

View images

Human diseases caused by Aloxe3 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

Human diseases associated with Aloxe3 (4 diseases)
Human diseases predicted to be associated with Aloxe3 (1230 diseases)

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

Disease	Matching phenotypes	Source
Lamellar Ichthyosis	Ichthyosis, Hyperkeratosis, Dehydration, Erythroderma, Pruritus	ORPHA:313
Self-Improving Collodion Baby	Ichthyosis	ORPHA:281122
Ichthyosis, Congenital, Autosomal Recessive 3	Palmoplantar keratoderma, Hyperkeratosis, Ichthyosis, Congenital nonbullous ichthyosiform erythro...	OMIM:606545
Congenital Ichthyosiform Erythroderma	Ichthyosis, Erythroderma, Failure to thrive, Palmoplantar keratoderma, Pruritus	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	Anemia, Jaundice, Hepatosplenomegaly, Lymphadenopathy	OMIM:312500
Ichthyosis, Lamellar, Autosomal Dominant	Hyperkeratosis, Congenital nonbullous ichthyosiform erythroderma, Pruritus	OMIM:146750
Hepatic Venoocclusive Disease With Immunodeficiency	Abnormality of the liver, Absence of lymph node germinal center	OMIM:235550
Keratosis, Focal Palmoplantar And Gingival	Gingival hyperkeratosis, Subungual hyperkeratosis, Focal friction-related palmoplantar hyperkerat...	OMIM:148730
Palmoplantar Keratoderma, Nonepidermolytic, Focal 1	Palmoplantar keratoderma, Congenital bullous ichthyosiform erythroderma, Perioral hyperkeratosis,...	OMIM:613000
Ichthyosis, Congenital, Autosomal Recessive 13	Hypergranulosis, Hyperkeratosis, Ichthyosis, Palmoplantar hyperkeratosis	OMIM:617574
Palmoplantar Keratoderma, Norrbotten Recessive Type	Palmoplantar keratoderma, Hyperkeratosis, Recurrent cutaneous fungal infections	OMIM:244850
Squamous Cell Carcinoma Of The Esophagus	Lymphadenopathy	ORPHA:99977
Immunodeficiency 38 With Basal Ganglia Calcification	Lymphadenopathy, Axillary lymphadenopathy, Inguinal lymphadenopathy	OMIM:616126
Porokeratosis Of Mibelli	Hyperkeratosis, Porokeratosis, Pruritus	ORPHA:735
Porokeratosis Plantaris Palmaris Et Disseminata	Hyperkeratotic papule, Porokeratosis, Pruritus, Palmoplantar hyperkeratosis	ORPHA:737
Hereditary Palmoplantar Keratoderma, Gamborg-Nielsen Type	Hyperkeratosis with erythema, Diffuse palmoplantar hyperkeratosis	ORPHA:86923
Palmoplantar Keratoderma, Punctate Type Iii	Hyperkeratosis, Acrokeratosis	OMIM:101850
Dermatoleukodystrophy	Thickened skin, Hyperkeratosis	ORPHA:1659
Ichthyosis Hystrix, Lambert Type	Orthokeratotic hyperkeratosis, Hyperkeratosis	OMIM:146600
Pulmonary Nodular Lymphoid Hyperplasia	Plasmacytosis, Mediastinal lymphadenopathy, Follicular hyperplasia	ORPHA:60026
Epidermolysis Bullosa Simplex 1C, Localized	Hyperkeratosis	OMIM:131800
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome	Microphthalmia, Anophthalmia	ORPHA:85275
Palmoplantar Keratoderma, Nagashima Type	Orthokeratotic hyperkeratosis, Hypergranulosis, Palmoplantar hyperkeratosis	OMIM:615598
Palmoplantar Keratoderma-Deafness Syndrome	Palmoplantar keratoderma, Hyperkeratosis	ORPHA:2202
Ichthyosis, Congenital, Autosomal Recessive 10	Generalized ichthyosis, Hyperkeratosis, Erythroderma, Orthokeratotic hyperkeratosis, Congenital n...	OMIM:615024
Reticulate Acropigmentation Of Kitamura	Hyperkeratosis	OMIM:615537
Epidermolytic Hyperkeratosis 2A, Autosomal Dominant	Generalized hyperkeratosis, Hyperkeratosis, Erythroderma, Cobblestone-like hyperkeratosis, Congen...	OMIM:620150
Erythrokeratodermia Variabilis Et Progressiva 5	Hyperkeratosis, Palmoplantar hyperkeratosis	OMIM:617756
Immunodeficiency 75 With Lymphoproliferation	Follicular hyperplasia, Hepatosplenomegaly, Lymphadenopathy, Decreased proportion of class-switch...	OMIM:619126
Dowling-Degos Disease 2	Hyperkeratotic papule, Follicular hyperkeratosis	OMIM:615327
Mantle Cell Lymphoma	Splenomegaly, Lymphadenopathy	ORPHA:52416
Hyperkeratosis Lenticularis Perstans	Hyperkeratosis lenticularis perstans	OMIM:144150
Angioma Serpiginosum, Autosomal Dominant	Hyperkeratosis	OMIM:106050
Papillomatosis, Confluent And Reticulated	Hyperkeratosis	OMIM:167900
Ichthyosis Hystrix Of Curth-Macklin	Recurrent skin infections, Hyperkeratosis, Ichthyosis, Diffuse palmoplantar hyperkeratosis	ORPHA:79503
Aquagenic Palmoplantar Keratoderma	Palmar pruritus, Atopic dermatitis, Orthokeratotic hyperkeratosis, Palmoplantar keratoderma, Edema	ORPHA:498359
Congenital Panfollicular Nevus	Hyperkeratosis	ORPHA:139414
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	Delayed puberty, Microphthalmia	OMIM:233270
Epidermolysis Bullosa Dystrophica, Pretibial	Hyperkeratosis, Pruritus	OMIM:131850
Hyperkeratosis-Hyperpigmentation Syndrome	Hyperkeratosis	ORPHA:1336
Autosomal Dominant Epidermolytic Ichthyosis	Ichthyosis, Hyperkeratosis, Erythroderma, Congenital bullous ichthyosiform erythroderma, Weight l...	ORPHA:312
Ichthyosis, Congenital, Autosomal Recessive 14	Orthokeratotic hyperkeratosis, Hyperkeratosis, Congenital nonbullous ichthyosiform erythroderma, ...	OMIM:617571
Insulin-Resistance Syndrome Type A	Hyperkeratosis	ORPHA:2297
Microphthalmia, Isolated 1	Microphthalmia, Anophthalmia	OMIM:251600
Erythrokeratoderma ''En Cocardes''	Hyperkeratosis	ORPHA:315
Glycoprotein Storage Disease	Splenomegaly	OMIM:232900
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/Coloboma 6	Hypoplasia of the fovea, Bilateral microphthalmos, Optic disc hypoplasia	OMIM:613703
Kimura Disease	Follicular hyperplasia, Eosinophilia, Lymphadenopathy	ORPHA:482
Microphthalmia, Isolated, With Cataract 1	Microphthalmia	OMIM:156850
Erythrokeratodermia Variabilis Et Progressiva 4	Hyperkeratosis, Congenital nonbullous ichthyosiform erythroderma, Palmoplantar hyperkeratosis	OMIM:617526
Verrucous Hemangioma	Hyperkeratotic papule, Inflammatory abnormality of the skin	ORPHA:464318
Ulerythema Ophryogenesis	Contact dermatitis, Miscarriage, Acne, Hyperkeratotic papule, Follicular hyperkeratosis	ORPHA:3406
Adenocarcinoma Of The Esophagus	Lymphadenopathy	ORPHA:99976
Autoinflammation With Episodic Fever And Lymphadenopathy	Hepatomegaly, Lymphadenopathy, Recurrent tonsillitis, Splenomegaly, Microcytic anemia	OMIM:618852
Familial Reactive Perforating Collagenosis	Perifolliculitis, Inflammatory abnormality of the skin, Pruritus, Hyperkeratotic papule, Crusting...	ORPHA:79147
Microphthalmia/Coloboma 4	Microphthalmia	OMIM:251505
Combined Malonic And Methylmalonic Aciduria	Failure to thrive, Dehydration	OMIM:614265
Autosomal Recessive Generalized Epidermolysis Bullosa Simplex	Failure to thrive, Hyperkeratosis, Pruritus, Palmoplantar hyperkeratosis	ORPHA:89838
Graham Little-Piccardi-Lassueur Syndrome	Perifollicular hyperkeratosis, Pruritus	ORPHA:505
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Autoimmune hemolytic anemia, Lymphadenopathy, Splenomegaly, Lymphopenia, Autoimmune thrombocytope...	ORPHA:444463
Mast Cell Sarcoma	Hepatomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Mastocytosis, Splenomegaly	ORPHA:66661
Parana Hard Skin Syndrome	Thickened skin, Hyperkeratosis	ORPHA:2812
Anonychia With Flexural Pigmentation	Hyperkeratosis, Follicular hyperkeratosis	ORPHA:69125
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells	Decreased helper T cell proportion, Hypersplenism, Splenomegaly, Pancytopenia	OMIM:183350
Acne Inversa, Familial, 2, With Or Without Dowling-Degos Disease	Follicular hyperkeratosis, Perifolliculitis, Chronic furunculosis, Recurrent cutaneous abscess fo...	OMIM:613736
Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis	Dehydration, Death in infancy	OMIM:251850
Congenital Varicella Syndrome	Intrauterine growth retardation, Microphthalmia	ORPHA:291
White Sponge Nevus 2	Edema, Hyperparakeratosis	OMIM:615785
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3	Microphthalmia	OMIM:616335
Lymphatic Malformation 4	Hyperkeratosis, Lymphedema, Pedal edema	OMIM:615907
Vohwinkel Syndrome, Variant Form	Parakeratosis, Hyperkeratosis, Honeycomb palmoplantar hyperkeratosis, Hypergranulosis, Orthokerat...	OMIM:604117
Microphthalmia/Coloboma 7	Microphthalmia	OMIM:614497
Immunodeficiency 32A	Lymphadenitis, Lymphadenopathy	OMIM:614893
Immunodeficiency 104	Splenomegaly, Hepatomegaly, Lymphadenopathy, T lymphocytopenia	OMIM:608971
Harlequin Ichthyosis	Ichthyosis, Congenital ichthyosiform erythroderma, Hyperkeratosis, Dehydration, Erythroderma	ORPHA:457
Acquired Ichthyosis	Ichthyosis, Hyperkeratosis, Palmoplantar keratoderma, Recurrent skin infections, Pruritus	ORPHA:454
Erythrokeratodermia Variabilis Et Progressiva 1	Erythroderma, Patchy palmoplantar hyperkeratosis, Hypergranulosis, Generalized hyperkeratosis	OMIM:133200
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Intermediate Form	Palmar hyperkeratosis, Hyperkeratosis, Pruritus, Plantar hyperkeratosis	ORPHA:79399
Moynahan Syndrome	Cachexia, Hyperkeratosis	ORPHA:2574
Microphthalmia/Coloboma 3	Microphthalmia	OMIM:610092
Fanconi Anemia, Complementation Group J	Postnatal growth retardation, Microphthalmia, Intrauterine growth retardation	OMIM:609054
Lymphatic Malformation 12	Polyhydramnios, Hyperkeratosis, Lymphedema, Death in adolescence, Neonatal death, Nonimmune hydro...	OMIM:620014
Deafness, Autosomal Dominant 34, With Or Without Inflammation	Lymphadenopathy	OMIM:617772
Keratosis Linearis With Ichthyosis Congenita And Sclerosing Keratoderma	Parakeratosis, Ichthyosis, Linear arrays of macular hyperkeratoses in flexural areas, Congenital ...	OMIM:601952
Ichthyosis With Erythrokeratoderma	Parakeratosis, Diffuse palmoplantar hyperkeratosis, Congenital ichthyosiform erythroderma, Hyperk...	OMIM:620507
Intellectual Developmental Disorder, Fra12A Type	Erythroderma, Hyperkeratosis	OMIM:136630
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies	Microphthalmia	OMIM:251700
Epidermolytic Palmoplantar Keratoderma	Diffuse palmoplantar hyperkeratosis, Palmoplantar hyperkeratosis, Palmar hyperkeratosis, Hypergra...	ORPHA:2199
Lymphoproliferative Syndrome 3	Reduced natural killer cell count, Hepatosplenomegaly, Lymphadenopathy	OMIM:618261
Keratoderma Hereditarium Mutilans With Ichthyosis	Parakeratosis, Generalized ichthyosis, Hyperkeratosis, Congenital nonbullous ichthyosiform erythr...	ORPHA:79395
Alpha-Methylacetoacetic Aciduria	Dehydration	OMIM:203750
Inflammatory Skin And Bowel Disease, Neonatal, 2	Failure to thrive, Pustule, Polyhydramnios, Dehydration	OMIM:616069
Reticular Dysgenesis	Failure to thrive, Skin rash, Dehydration, Weight loss	ORPHA:33355
Immunodeficiency 76	Lymphadenopathy, B lymphocytopenia, T lymphocytopenia, Splenomegaly, Lymphopenia	OMIM:619164
Lamellar Ichthyosis	Ichthyosis, Hyperkeratosis, Dehydration, Erythroderma, Pruritus	ORPHA:313
Lactase Deficiency, Congenital	Dehydration	OMIM:223000
Microphthalmia/Coloboma 10	Microphthalmia, Anophthalmia	OMIM:616428
Microphthalmia/Coloboma 5	Bilateral microphthalmos, Microphthalmia, Anophthalmia	OMIM:611638
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias	Lymphadenopathy, Decreased proportion of class-switched memory B cells, Lymphopenia, Decreased pr...	OMIM:619846
Focal Palmoplantar And Gingival Keratoderma	Gingival hyperkeratosis, Focal friction-related palmoplantar hyperkeratosis, Circumungual hyperke...	ORPHA:2200
Bazex Syndrome	Parakeratosis, Acanthosis nigricans, Hyperkeratosis, Palmoplantar keratoderma, Edema, Pruritus	ORPHA:166113
Nodular Lymphocyte Predominant Hodgkin Lymphoma	Splenomegaly, Hepatomegaly, Lymphadenopathy	ORPHA:86893
Infantile Digital Fibromatosis	Hyperkeratosis, Parakeratosis	ORPHA:199267
Follicular Lymphoma	Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Abnormal peritoneum morphology	ORPHA:545
Trichothiodystrophy 7, Nonphotosensitive	Ichthyosis, Congenital nonbullous ichthyosiform erythroderma, Follicular hyperkeratosis	OMIM:618546
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant	Lymphadenopathy, Decreased proportion of class-switched memory B cells, Increased proportion of t...	OMIM:615513
Microphthalmia, Isolated 4	Microphthalmia	OMIM:613094
Immunodeficiency 78 With Autoimmunity And Developmental Delay	Autoimmune hemolytic anemia, Fluctuating splenomegaly, Lymphadenopathy, Neutropenia in presence o...	OMIM:619220
Angioma Serpiginosum, X-Linked	Hyperkeratosis	OMIM:300652
Ichthyosis, Congenital, Autosomal Recessive 8	Hyperkeratosis, Ichthyosis, Orthokeratosis, Hypergranulosis	OMIM:613943
Central Diabetes Insipidus	Failure to thrive, Dehydration, Weight loss	ORPHA:178029
Self-Improving Collodion Baby	Ichthyosis	ORPHA:281122
Nanophthalmos 4	Microphthalmia	OMIM:615972
Burkitt Lymphoma	Abnormal lymph node morphology, Decreased proportion of CD4-positive helper T cells, Abnormality ...	ORPHA:543
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome	Palmoplantar keratoderma, Ascites, Weight loss	ORPHA:2198
Erythrokeratodermia Variabilis Et Progressiva 6	Parakeratosis, Superficial dermal perivascular inflammatory infiltrate, Pruritus	OMIM:618531
Olmsted Syndrome, X-Linked	Parakeratosis, Subungual hyperkeratosis, Hyperkeratosis, Palmoplantar hyperkeratosis, Palmoplanta...	OMIM:300918
Vitamin B12-Responsive Methylmalonic Acidemia	Failure to thrive, Dehydration	ORPHA:28
Palmoplantar Keratoderma And Congenital Alopecia 2	Hyperkeratosis, Sclerodactyly, Palmoplantar hyperkeratosis	OMIM:212360
Nanophthalmos	Microphthalmia	ORPHA:35612
Ichthyosis, Hystrix-Like, With Deafness	Ichthyosis, Hyperkeratosis, Erythroderma, Cobblestone-like hyperkeratosis, Palmoplantar hyperkera...	OMIM:602540
Mu-Heavy Chain Disease	Hepatomegaly, Anemia, Lymphadenopathy, Splenomegaly, Abnormal B cell count	ORPHA:100024
Microphthalmia, Syndromic 16	Microphthalmia, Anophthalmia	OMIM:611038
Pityriasis Rubra Pilaris	Parakeratosis, Subungual hyperkeratosis, Palmoplantar keratoderma, Hypergranulosis, Orthokeratosis	OMIM:173200
Corticosterone Methyloxidase Type Ii Deficiency	Increased circulating corticosterone level, Failure to thrive, Increased circulating 18-hydroxyco...	OMIM:610600
Transient Neonatal Diabetes Mellitus	Failure to thrive, Dehydration, Small for gestational age	ORPHA:99886
Chilblain Lupus	Malar rash, Hyperkeratosis, Discoid lupus rash, Skin rash, Inflammatory abnormality of the skin, ...	ORPHA:90280
Porokeratosis 7, Multiple Types	Parakeratosis, Porokeratosis	OMIM:614714
Congenital Enterocyte Heparan Sulfate Deficiency	Edema, Dehydration, Weight loss	ORPHA:103910
Porokeratosis 1, Multiple Types	Parakeratosis, Porokeratosis	OMIM:175800
Acrokeratosis Verruciformis	Punctate palmoplantar hyperkeratosis, Hyperkeratosis, Acantholysis, Acrokeratosis	OMIM:101900
Pruritic Urticarial Papules And Plaques Of Pregnancy	Parakeratosis, Palmar pruritus, Pruritus on foot, Increased body weight, Eczematoid dermatitis, P...	ORPHA:64745
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia	Abnormally low T cell receptor excision circle level, B lymphocytopenia, Cervical lymphadenopathy	OMIM:618987
Olmsted Syndrome 2	Parakeratosis, Perioral hyperkeratosis, Hyperkeratosis, Palmoplantar hyperkeratosis, Palmoplantar...	OMIM:619208
Pityriasis Rubra Pilaris	Ichthyosis, Erythroderma, Eczematoid dermatitis, Thickened skin, Pustule, Subungual hyperkeratosi...	ORPHA:2897
Cerebrooculofacioskeletal Syndrome 3	Intrauterine growth retardation, Microphthalmia	OMIM:616570
Hemophagocytic Lymphohistiocytosis, Familial, 4	Jaundice, Hepatomegaly, Lymphadenopathy, Hemophagocytosis, Anemia, Thrombocytopenia, Splenomegaly...	OMIM:603552
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation	Increased B cell count, Hepatosplenomegaly, Lymphadenopathy, Increased proportion of memory T cells	OMIM:618982
Alpha-Heavy Chain Disease	Splenomegaly, Hepatomegaly, Anemia, Lymphadenopathy	ORPHA:100025
Fish-Eye Disease	Splenomegaly, Hepatomegaly, Lymphadenopathy	ORPHA:79292
Hypercalcemia, Infantile, 1	Failure to thrive, Dehydration, Weight loss	OMIM:143880
Palmoplantar Keratoderma, Epidermolytic, 1	Palmar hyperkeratosis, Localized epidermolytic hyperkeratosis, Plantar hyperkeratosis, Palmoplant...	OMIM:144200
Ichthyosis, Congenital, Autosomal Recessive 6	Parakeratosis, Generalized ichthyosis, Hyperkeratosis, Erythroderma, Congenital nonbullous ichthy...	OMIM:612281
Atrophoderma Vermiculata	Hyperkeratotic papule, Pruritus, Follicular hyperkeratosis	ORPHA:79100
Immunodeficiency 27B	Generalized lymphadenopathy	OMIM:615978
Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency	Neonatal death, Dehydration	OMIM:602199
Psoriasis 2	Hyperkeratosis, Parakeratosis, Psoriasiform dermatitis	OMIM:602723
Isobutyryl-Coa Dehydrogenase Deficiency	Dehydration	ORPHA:79159
Peeling Skin Syndrome 5	Hyperkeratosis	OMIM:617115
Ichthyosis Prematurity Syndrome	Polyhydramnios, Generalized ichthyosis, Erythroderma, Pruritus, Follicular hyperkeratosis	OMIM:608649
Asplenia, Isolated Congenital	Howell-Jolly bodies, Thrombocytosis, Asplenia	OMIM:271400
Immunodeficiency With Hyper-Igm, Type 5	Lymphadenopathy	OMIM:608106
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome	Microphthalmia	ORPHA:1574
Ichthyosis, Congenital, Autosomal Recessive 9	Hyperkeratosis, Congenital nonbullous ichthyosiform erythroderma, Erythroderma, Hypergranulosis, ...	OMIM:615023
Cataract 11, Multiple Types	Microphthalmia	OMIM:610623
Palmoplantar Keratoderma, Punctate Type Ia	Punctate palmoplantar hyperkeratosis, Hypergranulosis, Orthokeratosis	OMIM:148600
Cole Disease	Hyperkeratosis, Hypergranulosis, Palmoplantar keratoderma, Punctate palmoplantar hyperkeratosis, ...	OMIM:615522
Immunodeficiency 52	Lymphadenopathy, Abnormal natural killer cell count, T lymphocytopenia, Splenomegaly, Abnormal B ...	OMIM:617514
Classic Mycosis Fungoides	Hyperkeratosis, Skin rash, Eczematoid dermatitis, Edema, Pruritus	ORPHA:2584
Peeling Skin Syndrome 4	Palmoplantar keratoderma, Hyperkeratosis, Ichthyosis, Orthokeratosis	OMIM:607936
Granulomatous Slack Skin	Abnormal lymph node morphology	ORPHA:33111
Ras-Associated Autoimmune Leukoproliferative Disorder	Hepatomegaly, Pancytopenia, Lymphocytosis, Splenomegaly, Hemolytic anemia, Autoimmune thrombocyto...	OMIM:614470
Erythrokeratodermia Variabilis Et Progressiva 3	Palmoplantar keratoderma, Hyperkeratosis, Orthokeratosis, Hypergranulosis	OMIM:617525
Peeling Skin Syndrome 6	Parakeratosis, Orthokeratosis, Pruritus, Atopic dermatitis	OMIM:618084
Lipoid Proteinosis Of Urbach And Wiethe	Thickened skin, Hyperkeratosis	OMIM:247100
Immunodeficiency 103, Susceptibility To Fungal Infections	Lymphadenopathy, Abnormal natural killer cell count, Abnormal proportion of CD8-positive T cells,...	OMIM:212050
Palmoplantar Keratoderma I, Striate, Focal, Or Diffuse	Orthokeratotic hyperkeratosis, Streaks of hyperkeratosis along each finger onto the palm, Palmopl...	OMIM:148700
Combined Malonic And Methylmalonic Acidemia	Failure to thrive, Dehydration	ORPHA:289504
Rosaï-Dorfman Disease	Anemia, Lymphadenopathy	ORPHA:158014
Erythrokeratodermia Variabilis	Patchy palmoplantar hyperkeratosis, Hyperkeratosis, Weight loss, Skin rash	ORPHA:317
Immunodeficiency With Hyper-Igm, Type 4	Autoimmune hemolytic anemia, Absence of lymph node germinal center, Autoimmune thrombocytopenia	OMIM:608184
Pulmonary Blastoma	Weight loss	ORPHA:64741
Netherton Syndrome	Parakeratosis, Eczematoid dermatitis, Angioedema, Failure to thrive, Congenital nonbullous ichthy...	OMIM:256500
Immunodeficiency With Hyper-Igm, Type 3	Absence of lymph node germinal center, Neutropenia	OMIM:606843
Generalized Pseudohypoaldosteronism Type 1	Dehydration, Atopic dermatitis, Glucocortocoid-insensitive primary hyperaldosteronism, Pustule, W...	ORPHA:171876
Microcephaly-Microcornea Syndrome, Seemanova Type	Growth delay, Microphthalmia, Short stature	ORPHA:2528
Immunodeficiency 105	Impaired lymphocyte transformation with phytohemagglutinin, Pancytopenia, B lymphocytopenia, Incr...	OMIM:619924
Hyperkeratosis Lenticularis Perstans	Hyperkeratosis lenticularis perstans, Pruritus	ORPHA:409
Porokeratosis 3, Multiple Types	Parakeratosis, Porokeratosis	OMIM:175900
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia	Abnormal lymph node morphology, Chronic noninfectious lymphadenopathy	ORPHA:97290
Leukocyte Adhesion Deficiency, Type Iii	Hepatomegaly, Anemia, Abnormal lymph node morphology, Leukocytosis, Hepatosplenomegaly, Splenomeg...	OMIM:612840
Seborrhea-Like Dermatitis With Psoriasiform Elements	Seborrheic dermatitis, Hyperkeratosis	OMIM:610227
Congenital Short Bowel Syndrome	Failure to thrive, Steatorrhea, Dehydration	OMIM:615237
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Anemia, Lymphadenopathy, Hemophagocytosis, Hepatosplenomegaly, Splenomegaly, Thrombocytopenia	OMIM:613101
Pfapa Syndrome	Splenomegaly, Hepatomegaly, Lymphadenopathy	ORPHA:42642
Ichthyosis Hystrix, Curth-Macklin Type	Palmoplantar keratoderma, Hyperkeratotic papule	OMIM:146590
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia	Mediastinal lymphadenopathy, Lymphadenopathy, Decreased proportion of CD4-positive helper T cells...	OMIM:300853
Combined Oxidative Phosphorylation Deficiency 47	Failure to thrive, Dehydration	OMIM:618958
Familial Papillary Or Follicular Thyroid Carcinoma	Abnormal lymph node morphology, Chronic noninfectious lymphadenopathy	ORPHA:319487
Hypotrichosis Simplex Of The Scalp	Hyperkeratosis, Parakeratosis, Pruritus, Atopic dermatitis	ORPHA:90368
Immunodeficiency With Hyper-Igm, Type 2	Lymphadenopathy	OMIM:605258
Recessive X-Linked Ichthyosis	Hyperkeratosis, Ichthyosis	ORPHA:461
Immunodeficiency 64 With Lymphoproliferation	Autoimmune hemolytic anemia, Mediastinal lymphadenopathy, Lymphadenopathy, Hepatosplenomegaly, Sp...	OMIM:618534
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive	Failure to thrive, Dehydration, Hyperaldosteronism	OMIM:264350
Methylmalonyl-Coa Epimerase Deficiency	Failure to thrive, Dehydration	OMIM:251120
Early-Onset Familial Hypoaldosteronism	Failure to thrive, Dehydration, Elevated serum 11-deoxycortisol, Abnormal circulating corticoster...	ORPHA:556030
Ichthyosis, Annular Epidermolytic, 2	Palmoplantar keratoderma, Ichthyosis, Orthokeratosis, Palmoplantar hyperkeratosis	OMIM:620148
Netherton Syndrome	Ichthyosis, Acanthosis nigricans, Skin rash, Dehydration, Eczematoid dermatitis, Congenital nonbu...	ORPHA:634
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis	Parakeratosis, Ichthyosis, Hyperkeratosis, Palmoplantar keratoderma, Pruritus	OMIM:615821
Ichthyosis, Congenital, Autosomal Recessive 5	Parakeratosis, Erythroderma, Congenital nonbullous ichthyosiform erythroderma, Palmoplantar kerat...	OMIM:604777
Intestinal Dysmotility Syndrome	Failure to thrive, Polyhydramnios, Weight loss	OMIM:620045
Macrosomia-Microphthalmia-Cleft Palate Syndrome	Microphthalmia	ORPHA:2432
Olmsted Syndrome 1	Parakeratosis, Hyperparakeratosis, Periorificial hyperkeratosis, Subungual hyperkeratosis, Palmop...	OMIM:614594
Xeroderma Pigmentosum, Complementation Group G	Growth delay, Microphthalmia	OMIM:278780
Dystrophic Epidermolysis Bullosa Pruriginosa	Hyperkeratosis, Pruritus	ORPHA:89843
Fryns Microphthalmia Syndrome	Microphthalmia, Neural tube defect, Anophthalmia	OMIM:600776
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss	Failure to thrive, Dehydration	OMIM:602722
Hyperchlorhidrosis, Isolated	Failure to thrive, Hypernatremic dehydration	OMIM:143860
Biemond Syndrome Type 2	Delayed puberty, Microphthalmia, Short stature	ORPHA:141333
Immunodeficiency 27A	Anemia, Lymphadenopathy, Thrombocytosis, Leukocytosis, Hepatosplenomegaly, Splenomegaly, Enlarged...	OMIM:209950
Ichthyosis, Annular Epidermolytic, 1	Ichthyosis, Hyperparakeratosis, Congenital bullous ichthyosiform erythroderma, Palmoplantar hyper...	OMIM:607602
Meige Disease	Edema of the dorsum of hands, Predominantly lower limb lymphedema, Lymphedema, Pleural effusion, ...	ORPHA:90186
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia	Failure to thrive, Death in childhood, Dehydration, Death in adolescence	OMIM:560000
Ichthyosis, Congenital, Autosomal Recessive 1	Parakeratosis, Ichthyosis, Congenital ichthyosiform erythroderma, Congenital nonbullous ichthyosi...	OMIM:242300
Pseudohypoaldosteronism, Type I, Autosomal Dominant	Failure to thrive, Dehydration, Hyperaldosteronism	OMIM:177735
Ectodermal Dysplasia-Syndactyly Syndrome 2	Palmoplantar keratoderma, Congenital bullous ichthyosiform erythroderma, Follicular hyperkeratosis	OMIM:613576
Familial Renal Glucosuria	Dehydration	ORPHA:69076
Glucose/Galactose Malabsorption	Failure to thrive, Hypertonic dehydration	OMIM:606824
Tylosis With Esophageal Cancer	Parakeratosis, Follicular hyperkeratosis, Diffuse palmoplantar hyperkeratosis	OMIM:148500
Acrokeratosis Verruciformis Of Hopf	Punctate palmoplantar hyperkeratosis, Hyperkeratosis, Hypergranulosis	ORPHA:79151
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Hepatomegaly, B lymphocytopenia, Lymphopenia, Eosinophilia, Lymph node hypoplasia, Splenomegaly, ...	OMIM:602450
Immunodeficiency 109 With Lymphoproliferation	Absent circulating B cells, Generalized lymphadenopathy, Splenomegaly, Pancytopenia	OMIM:620282
Hypotrichosis 6	Pruritus, Follicular hyperkeratosis	OMIM:607903
Mycosis Fungoides	Lymphadenopathy	OMIM:254400
Indolent Systemic Mastocytosis	Hepatomegaly, Increased proportion of CD25+ mast cells, Lymphadenopathy, Mastocytosis, Splenomega...	ORPHA:98848
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency	Hepatomegaly, Lymphadenopathy, Decreased proportion of class-switched memory B cells, Splenomegal...	OMIM:619375
Acrokeratoelastoidosis Of Costa	Hypergranulosis, Hyperkeratotic papule, Orthokeratosis, Palmoplantar hyperkeratosis	ORPHA:38
Infantile Cataract, Skin Abnormalities, Glutamate Excess, And Impaired Intellectual Development	Hyperkeratosis, Parakeratosis	OMIM:618339
Cerebrooculofacioskeletal Syndrome 1	Failure to thrive, Death in childhood, Dehydration, Small for gestational age	OMIM:214150
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Lymphadenopathy, B lymphocytopenia, Splenomegaly, Intermittent thrombocytopenia, Abnormal CD4:CD8...	OMIM:150550
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Splenomegaly, Decreased CD4:CD8 ratio	OMIM:618495
Keratoderma Hereditarium Mutilans	Hyperkeratosis, Ichthyosis, Honeycomb palmoplantar hyperkeratosis	ORPHA:494
Laryngeal Neuroendocrine Tumor	Chronic noninfectious lymphadenopathy	ORPHA:100083
Milroy Disease	Predominantly lower limb lymphedema, Hyperkeratosis, Lymphedema, Erysipelas, Pedal edema	ORPHA:79452
Microphthalmia, Isolated 6	Microphthalmia	OMIM:613517
Cold Agglutinin Disease	Splenomegaly, Hepatomegaly, Lymphadenopathy, Hemolytic anemia	ORPHA:56425
Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome	Comedonal acne, Follicular hyperkeratosis	OMIM:615147
Familial Cold Urticaria	Dehydration, Pruritus	ORPHA:47045
Adams-Oliver Syndrome 4	Microphthalmia, Umbilical hernia	OMIM:615297
Lichen Planus Pemphigoides	Hyperkeratosis, Pruritus	ORPHA:254478
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive	Dehydration, Hyperaldosteronism	OMIM:620126
Aids Wasting Syndrome	Cachexia, Weight loss	ORPHA:90081
Arthrogryposis, Renal Dysfunction, And Cholestasis 1	Ichthyosis, Dehydration, Death in infancy, Failure to thrive, Oligohydramnios, Small for gestatio...	OMIM:208085
Immunodeficiency 7	Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Splenomegaly, Hypereosinophilia, Neut...	OMIM:615387
Neuropathy, Hereditary Sensory, Type If	Hyperkeratosis	OMIM:615632
Familial Cold Autoinflammatory Syndrome 2	Lymphadenopathy, Leukocytosis, Splenomegaly	OMIM:611762
Autoimmune Lymphoproliferative Syndrome, Type Iii	Autoimmune hemolytic anemia, Hepatomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Decrease...	OMIM:615559
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive	Dehydration, Hyperaldosteronism	OMIM:620125
Klatskin Tumor	Jaundice, Hepatomegaly, Lymphadenopathy, Cholangiocarcinoma, Extrahepatic cholestasis	ORPHA:99978
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Failure to thrive, Dehydration	ORPHA:79312
Corticosterone Methyloxidase Type I Deficiency	Failure to thrive, Dehydration	OMIM:203400
Craniotelencephalic Dysplasia	Frontal encephalocele, Microphthalmia, Optic nerve hypoplasia	OMIM:218670
Schnitzler Syndrome	Hepatomegaly, Anemia, Lymphadenopathy, Leukocytosis, Splenomegaly	ORPHA:37748
Elastosis Perforans Serpiginosa	Hyperkeratotic papule, Crusting erythematous dermatitis	ORPHA:79148
Enteric Anendocrinosis	Dehydration	ORPHA:83620
Mednik Syndrome	Hyperkeratosis, Ichthyosis	ORPHA:171851
Ichthyosis, Congenital, Autosomal Recessive 3	Palmoplantar keratoderma, Hyperkeratosis, Ichthyosis, Congenital nonbullous ichthyosiform erythro...	OMIM:606545
Ramon Syndrome	Failure to thrive, Hyperkeratosis	ORPHA:3019
Congenital Disorder Of Glycosylation, Type Im	Ichthyosis, Hyperkeratosis, Death in infancy, Failure to thrive, Inflammatory abnormality of the ...	OMIM:610768
Autosomal Agammaglobulinemia	Failure to thrive, Skin rash, Dehydration, Recurrent skin infections	ORPHA:33110
Pseudomyxoma Peritonei	Lymphadenopathy, Abnormal peritoneum morphology	ORPHA:26790
Foveal Hypoplasia 2	Microphthalmia, Hypoplasia of the fovea	OMIM:609218
Caspase 8 Deficiency	Splenomegaly, Decreased CD4:CD8 ratio, Lymphadenopathy	OMIM:607271
Immunodeficiency, Common Variable, 2	Hepatomegaly, Lymphadenopathy, Abnormal T cell count, Splenomegaly, Follicular hyperplasia	OMIM:240500
Microphthalmia, Isolated, With Corectopia	Microphthalmia	OMIM:156900
Fanconi Anemia, Complementation Group G	Growth delay, Microphthalmia	OMIM:614082
Cat-Eye Syndrome	Short stature, Microphthalmia, Intrauterine growth retardation	ORPHA:195
Facial Clefting, Oblique, 1	Microphthalmia	OMIM:600251
Corticosteroid-Sensitive Aseptic Abscess Syndrome	Liver abscess, Abnormal lymph node morphology, Anemia, Abnormality of the lymphatic system, Neutr...	ORPHA:54251
Bathing Suit Ichthyosis	Parakeratosis, Ichthyosis, Thickened skin, Congenital nonbullous ichthyosiform erythroderma, Palm...	ORPHA:100976
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis	Short stature, Microphthalmia	OMIM:610023
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2	Intrauterine growth retardation, Microphthalmia, Short stature	OMIM:616171
Immune Dysregulation, Autoimmunity, And Autoinflammation	Anemia, Cervical lymphadenopathy, Inguinal lymphadenopathy	OMIM:620514
Flynn-Aird Syndrome	Hyperkeratosis	OMIM:136300
Microphthalmia, Syndromic 13	Short stature, Microphthalmia	OMIM:300915
Rothmund-Thomson Syndrome, Type 1	Hyperkeratosis	OMIM:618625
Noonan Syndrome 8	Large for gestational age, Polyhydramnios, Hyperkeratosis, Pleural effusion, Eczematoid dermatiti...	OMIM:615355
Griscelli Syndrome Type 2	Jaundice, Hepatomegaly, Lymphadenopathy, Hemophagocytosis, Pancytopenia, Splenomegaly, Neutropenia	ORPHA:79477
Glucose-Galactose Malabsorption	Failure to thrive, Dehydration, Weight loss	ORPHA:35710
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency	B lymphocytopenia, T lymphocytopenia, Absence of lymph node germinal center, Lymphopenia, Absent ...	ORPHA:277
Darier Disease	Thickened skin, Acrokeratosis, Palmoplantar keratoderma, Pruritus, Subungual hyperkeratotic fragm...	ORPHA:218
Pleural Mesothelioma	Hepatomegaly, Lymphadenopathy	ORPHA:50251
Congenital Tufting Enteropathy	Failure to thrive, Steatorrhea, Dehydration, Weight loss	ORPHA:92050
Irida Syndrome	Hyperkeratosis, Ichthyosis	ORPHA:209981
Immunodeficiency, Common Variable, 1	Hepatomegaly, Lymphadenopathy, Decreased proportion of class-switched memory B cells, B lymphocyt...	OMIM:607594
Secondary Short Bowel Syndrome	Failure to thrive, Steatorrhea, Dehydration, Weight loss	ORPHA:95427
Idiopathic Achalasia	Weight loss	ORPHA:930
Insulin Autoimmune Syndrome	Acanthosis nigricans, Weight loss	ORPHA:411593
Dihydropyrimidine Dehydrogenase Deficiency	Growth delay, Microphthalmia	OMIM:274270
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige	Ichthyosis, Erythroderma, Hypergranulosis, Failure to thrive, Palmoplantar keratoderma, Recurrent...	OMIM:615508
Mmep Syndrome	Microphthalmia	ORPHA:3434
Superficial Epidermolytic Ichthyosis	Palmoplantar keratoderma, Acantholysis, Ichthyosis, Edema	ORPHA:455
Cofs Syndrome	Intrauterine growth retardation, Microphthalmia, Short stature	ORPHA:1466
Vulvovaginal Gingival Syndrome	Parakeratosis, Pruritus	ORPHA:83453
Classic Hodgkin Lymphoma	Bone marrow hypocellularity, Hepatomegaly, Splenomegaly, Lymphadenopathy	ORPHA:391
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 1	Failure to thrive, Hyperkeratosis, Death in childhood	OMIM:301108
Autoimmune Lymphoproliferative Syndrome	Autoimmune hemolytic anemia, Hepatomegaly, Iron deficiency anemia, Neutropenia in presence of ant...	OMIM:601859
Adrenal Hypoplasia, Congenital	Failure to thrive, Decreased circulating cortisol level, Dehydration	OMIM:300200
Carnitine Deficiency, Systemic Primary	Failure to thrive, Dehydration	OMIM:212140
Microphthalmia, Isolated 8	Optic nerve hypoplasia, Microphthalmia, True anophthalmia, Anophthalmia	OMIM:615113
Immunodeficiency 54	Lymphadenopathy, Reduced natural killer cell count, Splenomegaly, Hepatomegaly	OMIM:609981
Isolated Congenital Hypoglossia/Aglossia	Weight loss	ORPHA:141152
Lymphoproliferative Syndrome 2	Aplastic anemia, Hepatomegaly, Lymphadenopathy, Hemophagocytosis, Pancytopenia, Hepatosplenomegal...	OMIM:615122
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development	Microphthalmia	OMIM:120433
Chromomycosis	Hyperparakeratosis, Predominantly lower limb lymphedema, Hyperkeratosis, Lymphedema, Edema, Hyper...	ORPHA:182
Activated Pi3K-Delta Syndrome	Hepatomegaly, Lymphadenopathy, Recurrent tonsillitis, B lymphocytopenia, Splenomegaly	ORPHA:397596
Craniotelencephalic Dysplasia	Frontal encephalocele, Microphthalmia, Septo-optic dysplasia	ORPHA:1528
Ichthyosis, Congenital, Autosomal Recessive 4B	Congenital ichthyosiform erythroderma, Failure to thrive, Neonatal death, Death in infancy	OMIM:242500
Ichthyosis, Spastic Quadriplegia, And Impaired Intellectual Development	Hyperkeratosis, Death in childhood, Ichthyosis, Congenital nonbullous ichthyosiform erythroderma	OMIM:614457
Sjögren-Larsson Syndrome	Hyperkeratosis, Ichthyosis	ORPHA:816
Pachyonychia Congenita 1	Follicular hyperkeratosis, Palmoplantar hyperkeratosis	OMIM:167200
Alpha-N-Acetylgalactosaminidase Deficiency Type 1	Hyperkeratosis, Lymphedema	ORPHA:79279
Diarrhea 1, Secretory Chloride, Congenital	Failure to thrive, Polyhydramnios, Dehydration, Hyperaldosteronism	OMIM:214700
Propionic Acidemia	Failure to thrive, Dehydration, Eczematoid dermatitis	OMIM:606054
Congenital Disorder Of Glycosylation, Type Iq	Failure to thrive, Hyperkeratosis, Ichthyosis, Eczematoid dermatitis	OMIM:612379
Variegate Porphyria, Childhood-Onset	Epidermal hyperkeratosis, Atopic dermatitis	OMIM:620483
Congenital Toxoplasmosis	Jaundice, Anemia, Lymphadenopathy, Hepatomegaly, Thrombocytopenia	ORPHA:858
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Impaired lymphocyte transformation with phytohemagglutinin, B lymphocytopenia, Hypoplasia of the ...	OMIM:619313
Knuckle Pads-Leukonychia-Sensorineural Deafness-Palmoplantar Hyperkeratosis Syndrome	Palmoplantar keratoderma, Hyperkeratotic papule, Palmoplantar hyperkeratosis	ORPHA:2698
Hyperpigmentation With Or Without Hypopigmentation, Familial Progressive	Hyperkeratosis	OMIM:145250
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8	Microphthalmia	OMIM:614830
Congenital Disorder Of Glycosylation, Type If	Erythroderma, Failure to thrive, Hyperkeratosis, Death in infancy	OMIM:609180
Leishmaniasis	Hepatomegaly, Anemia, Lymphadenopathy, Pancytopenia, Abnormal macrophage morphology, Leukopenia, ...	ORPHA:507
Familial Benign Chronic Pemphigus	Hyperkeratosis, Acantholysis	ORPHA:2841
Heme Oxygenase 1 Deficiency	Hepatomegaly, Lymphadenopathy, Asplenia, Coombs-positive hemolytic anemia, Thrombocytosis, Cervic...	OMIM:614034
Lichen Planopilaris	Hyperkeratosis, Pruritus	ORPHA:525
Peeling Skin With Leukonychia, Acral Punctate Keratoses, Cheilitis, And Knuckle Pads	Hyperkeratosis, Punctate palmoplantar hyperkeratosis, Acantholysis, Pruritus, Follicular hyperker...	OMIM:616295
Autoimmune Lymphoproliferative Syndrome, Type Iia	Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Iron deficiency anemia, Neutropenia i...	OMIM:603909
Proteus Syndrome	Hyperkeratosis	OMIM:176920
Pancreatoblastoma	Jaundice, Abnormal lymph node morphology, Pancreatic calcification	ORPHA:677
Isovaleric Acidemia	Dehydration	OMIM:243500
2Q24 Microdeletion Syndrome	Growth delay, Microphthalmia	ORPHA:1617
Proteasome-Associated Autoinflammatory Syndrome 4	Autoimmune hemolytic anemia, Splenomegaly, Hepatomegaly, Lymphadenopathy	OMIM:619183
Primary Myelofibrosis	Hepatomegaly, Anemia, Lymphadenopathy, Thrombocytosis, Pancytopenia, Leukocytosis, Portal hyperte...	ORPHA:824
Epidermolysis Bullosa Simplex With Circinate Migratory Erythema	Parakeratosis, Pruritus	ORPHA:158681
Immunodeficiency 98 With Autoinflammation, X-Linked	Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Hemophagocytosis, B lymphocytopenia, ...	OMIM:301078
Lymphoproliferative Syndrome, X-Linked, 1	Aplastic anemia, Hepatomegaly, Lymphadenopathy, Hemophagocytosis, Pancytopenia, Lymphocytosis, Fu...	OMIM:308240
Palmoplantar Keratoderma And Congenital Alopecia 1	Palmoplantar keratoderma, Epidermal hyperkeratosis, Plantar hyperkeratosis	OMIM:104100
Middle Ear Neuroendocrine Tumor	Chronic noninfectious lymphadenopathy	ORPHA:100084
Lipoid Proteinosis	Thickened skin, Hyperkeratosis, Pustule, Acne	ORPHA:530
Deafness-Lymphedema-Leukemia Syndrome	Acute leukemia, Hepatomegaly, Lymphadenopathy, Abnormal neutrophil count, Myeloproliferative diso...	ORPHA:3226
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features	Parakeratosis, Ichthyosis, Acanthosis nigricans, Hyperkeratosis, Xerostomia	OMIM:618527
Lymphoproliferative Syndrome 1	Autoimmune hemolytic anemia, Hepatomegaly, Anemia, Lymphadenopathy, Hemophagocytosis, Pancytopeni...	OMIM:613011
Nephroblastoma	Neoplasm of the liver, Lymphadenopathy	ORPHA:654
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Fkbp22 Deficiency	Follicular hyperkeratosis	ORPHA:300179
Cinca Syndrome	Anemia, Lymphadenopathy, Leukocytosis, Hepatosplenomegaly, Eosinophilia	OMIM:607115
Hartsfield Syndrome	Intrauterine growth retardation, Microphthalmia, Encephalocele	ORPHA:2117
Gamma-Heavy Chain Disease	Autoimmune hemolytic anemia, Hepatomegaly, Anemia, Lymphadenopathy, Abnormal lymphocyte morpholog...	ORPHA:100026
Desmoplastic Small Round Cell Tumor	Hepatomegaly, Anemia, Mediastinal lymphadenopathy, Lymphadenopathy, Neoplasm of the pancreas, Abn...	ORPHA:83469
Vitamin B12-Unresponsive Methylmalonic Acidemia	Dehydration	ORPHA:27
Cardiofaciocutaneous Syndrome 3	Failure to thrive, Hyperkeratosis	OMIM:615279
Ichthyosis, Congenital, Autosomal Recessive 11	Congenital ichthyosiform erythroderma, Hyperkeratosis, Pruritus	OMIM:602400
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome	Occipital encephalocele, Microphthalmia	ORPHA:324416
Joubert Syndrome 22	Intrauterine growth retardation, Microphthalmia	OMIM:615665
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma	Microphthalmia	OMIM:267760
Cataract 9, Multiple Types	Microphthalmia	OMIM:604219
Ichthyosis, Congenital, Autosomal Recessive 2	Congenital ichthyosiform erythroderma, Hyperkeratosis, Congenital nonbullous ichthyosiform erythr...	OMIM:242100
Huntington Disease-Like 2	Weight loss	ORPHA:98934
Hidrotic Ectodermal Dysplasia	Cobblestone-like hyperkeratosis, Thickened skin, Palmoplantar hyperkeratosis, Palmoplantar kerato...	ORPHA:189
Osteootohepatoenteric Syndrome	Failure to thrive, Dehydration, Pruritus, Weight loss	OMIM:619377
Tularemia	Cervical lymphadenopathy, Mediastinal lymphadenopathy, Lymphadenopathy, Anemia, Leukocytosis, Thr...	ORPHA:3392
Idiopathic Uveal Effusion Syndrome	Microphthalmia	ORPHA:209956
Systemic-Onset Juvenile Idiopathic Arthritis	Splenomegaly, Hepatomegaly, Lymphadenopathy	ORPHA:85414
Hypercarotenemia And Vitamin A Deficiency, Autosomal Recessive	Follicular hyperkeratosis	OMIM:277350
Undifferentiated Pleomorphic Sarcoma	Weight loss	ORPHA:2023
Cryptophthalmos, Unilateral Or Bilateral, Isolated	Microphthalmia	OMIM:123570
Microphthalmia, Syndromic 12	Microphthalmia, Anophthalmia	OMIM:615524
Syndromic Recessive X-Linked Ichthyosis	Hyperkeratosis, Ichthyosis	ORPHA:281090
Combined Immunodeficiency Due To Zap70 Deficiency	Autoimmune hemolytic anemia, Abnormal lymph node morphology, Lymphadenopathy, Decreased proportio...	ORPHA:911
Mitochondrial Complex Iii Deficiency, Nuclear Type 6	Failure to thrive, Dehydration	OMIM:615453
Dowling-Degos Disease	Hyperkeratosis, Pruritus, Hyperkeratotic papule, Acne inversa	ORPHA:79145
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency	Parakeratosis, Superficial dermal perivascular inflammatory infiltrate, Predominantly dermal neut...	ORPHA:284426
Cystinosis	Failure to thrive, Dehydration	ORPHA:213
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Lymphadenopathy, Recurrent tonsillitis, Acute pancreatitis, Lymphadenitis, Hepatosplenomegaly, Sp...	OMIM:618935
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency	Jaundice, Hepatomegaly, Decreased proportion of CD3-positive T cells, Decreased proportion of nai...	ORPHA:276
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Hyperkeratosis, Skin rash, Pustule, Joint swelling, Failure to thrive in infancy	OMIM:612852
Schopf-Schulz-Passarge Syndrome	Palmoplantar keratoderma, Hyperkeratosis	OMIM:224750
Acquired Hypertrichosis Lanuginosa	Thickened skin, Ichthyosis, Acanthosis nigricans, Weight loss	ORPHA:2221
Omenn Syndrome	Hepatomegaly, Anemia, Lymphadenopathy, B lymphocytopenia, Hypoplasia of the thymus, Severe B lymp...	OMIM:603554
Squamous Cell Carcinoma Of The Anal Canal	Neoplasm of the liver, Lymphadenopathy	ORPHA:424019
Hypotrichosis With Juvenile Macular Degeneration	Hyperkeratosis	ORPHA:1573
Malignant Peritoneal Mesothelioma	Pedal edema, Ascites, Weight loss	ORPHA:168811
Cortical Dysplasia, Complex, With Other Brain Malformations 6	Microphthalmia	OMIM:615771
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Failure to thrive, Dehydration	OMIM:251000
Immunodeficiency 97 With Autoinflammation	Autoimmune hemolytic anemia, Mediastinal lymphadenopathy, Lymphadenopathy, Hemophagocytosis, Decr...	OMIM:619802
Progressive Nodular Histiocytosis	Cachexia	ORPHA:158022
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome	Intrauterine growth retardation, Microphthalmia, Short stature	ORPHA:48431
Ectodermal Dysplasia/Short Stature Syndrome	Palmoplantar keratoderma, Hyperkeratosis	OMIM:616029
Microvillus Inclusion Disease	Dehydration, Pruritus	ORPHA:2290
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1	Short stature, Microphthalmia	OMIM:251270
Pemphigus Vulgaris	Recurrent cutaneous abscess formation, Acantholysis, Weight loss	ORPHA:704
Lysosomal Acid Lipase Deficiency	Hypertriglyceridemia, Xanthelasma, Steatorrhea, Cachexia, Dehydration, Ascites, Failure to thrive...	ORPHA:275761
Oculocerebrocutaneous Syndrome	Microphthalmia, Orbital encephalocele, Anophthalmia	OMIM:164180
Lissencephaly Syndrome, Norman-Roberts Type	Hypoplastic spleen	ORPHA:89844
Thymic Carcinoma	Edema, Palpebral edema, Weight loss	ORPHA:99868
Rhabdoid Tumor	Thrombocytopenia, Neoplasm of the liver, Anemia, Lymphadenopathy	ORPHA:69077
Ectodermal Dysplasia 12, Hypohidrotic/Hair/Tooth/Nail Type	Eczematoid dermatitis, Orthokeratosis, Acne inversa, Subungual hyperkeratosis	OMIM:617337
Beta-Ketothiolase Deficiency	Edema, Dehydration, Weight loss	ORPHA:134
Isaacs Syndrome	Weight loss	ORPHA:84142
Microphthalmia, Syndromic 11	Microphthalmia	OMIM:614402
Tafro Syndrome	Hepatomegaly, Anemia, Lymphadenopathy, Leukocytosis, Hepatosplenomegaly, Splenomegaly, Thrombocyt...	ORPHA:457077
Aggressive Systemic Mastocytosis	Anemia, Lymphadenopathy, Increased proportion of CD25+ mast cells, Pancytopenia, Leukocytosis, Po...	ORPHA:98850
Griscelli Syndrome	Jaundice, Hepatomegaly, Lymphadenopathy, Bone marrow hypocellularity, Leukopenia, Splenomegaly, T...	ORPHA:381
Gaucher Disease, Perinatal Lethal	Polyhydramnios, Ichthyosis, Hyperkeratosis, Decreased body weight, Ascites, Neonatal death, Nonim...	OMIM:608013
Eosinophilic Gastroenteritis	Steatorrhea, Ascites, Atopic dermatitis, Weight loss, Edema	ORPHA:2070
Sézary Syndrome	Lymphadenopathy, Abnormal lymphocyte morphology, Splenomegaly, Hepatomegaly	ORPHA:3162
Microphthalmia, Isolated 5	Microphthalmia	OMIM:611040
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)	Cachexia, Failure to thrive, Weight loss	OMIM:612075
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)	Cachexia, Slender build, Weight loss	OMIM:613662
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy	Cachexia	ORPHA:1216
Congenital Disorder Of Glycosylation, Type Iil	Failure to thrive, Hyperkeratosis, Peau d'orange, Death in infancy	OMIM:614576
Thyroid Lymphoma	Lymphadenopathy	ORPHA:97285
Lipodystrophy Due To Peptidic Growth Factors Deficiency	Palmoplantar keratoderma, Cachexia, Thickened skin, Weight loss	ORPHA:1979
Stormorken Syndrome	Anemia, Howell-Jolly bodies, Asplenia, Hypoplastic spleen, Thrombocytopenia	OMIM:185070
Meckel Syndrome, Type 2	Microphthalmia, Anencephaly, Encephalocele, Meningocele, Intrauterine growth retardation	OMIM:603194
Eosinophilic Fasciitis	Edema, Muscular edema, Weight loss	ORPHA:3165
Pachyonychia Congenita	Palmoplantar keratoderma, Linear arrays of macular hyperkeratoses in flexural areas, Failure to t...	ORPHA:2309
Diabetes Insipidus, Nephrogenic, 2, Autosomal	Failure to thrive, Hypertonic dehydration	OMIM:125800
Diabetes Insipidus, Nephrogenic, 1, X-Linked	Failure to thrive, Hypertonic dehydration	OMIM:304800
Xk Aprosencephaly Syndrome	Microphthalmia	ORPHA:3469
Wolcott-Rallison Syndrome	Decreased body weight, Ascites, Dehydration	ORPHA:1667
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Splenomegaly, Lymphopenia, Autoimmune...	OMIM:616100
Subacute Cutaneous Lupus Erythematosus	Malar rash, Hyperkeratosis, Discoid lupus rash	ORPHA:163525
Congenital Ichthyosiform Erythroderma	Ichthyosis, Erythroderma, Failure to thrive, Palmoplantar keratoderma, Pruritus	ORPHA:79394
Niemann-Pick Disease, Type A	Sea-blue histiocytosis, Hepatomegaly, Lymphadenopathy, Bone-marrow foam cells, Prolonged neonatal...	OMIM:257200
Meckel Syndrome, Type 8	Occipital encephalocele, Microphthalmia, Encephalocele, Anophthalmia	OMIM:613885
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Decreased proportion of CD8-positive T cells, Lymphadenopathy, Decreased proportion of CD3-positi...	ORPHA:169154
Keratosis Follicularis Spinulosa Decalvans, X-Linked	Palmoplantar keratoderma, Folliculitis, Follicular hyperkeratosis	OMIM:308800
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Pancytopenia, B lymphocytopenia, Lymphadenitis, T lymphocytopenia, Leukopenia, Hepatosplenomegaly...	OMIM:618986
Oculopalatocerebral Syndrome	Short stature, Microphthalmia	OMIM:257910
Neonatal Lupus Erythematosus	Parakeratosis, Malar rash, Hyperkeratosis, Skin rash, Maculopapular exanthema	ORPHA:398124
Ichthyosis-Alopecia-Eclabion-Ectropion-Intellectual Disability Syndrome	Generalized ichthyosis, Generalized hyperkeratosis	ORPHA:2269
Galactose Epimerase Deficiency	Weight loss	ORPHA:79238
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	Intrauterine growth retardation, Microphthalmia, Rhizomelia, Short stature	OMIM:300863
Cerebrooculofacioskeletal Syndrome 2	Intrauterine growth retardation, Microphthalmia, Growth delay	OMIM:610756
Gracile Bone Dysplasia	Hypoplastic spleen, Asplenia	OMIM:602361
Pachyonychia Congenita 3	Palmoplantar keratoderma, Plantar hyperkeratosis, Palmar hyperkeratosis, Chapped lip, Follicular ...	OMIM:615726
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome	Overweight, Follicular hyperkeratosis	ORPHA:486815
Ectodermal Dysplasia-Sensorineural Deafness Syndrome	Hyperkeratosis	ORPHA:1883
Oculogastrointestinal Neurodevelopmental Syndrome	Short stature, Bilateral microphthalmos, Unilateral microphthalmos	OMIM:619318
Boutonneuse Fever	Thrombocytopenia, Cervical lymphadenopathy, Leukopenia, Lymphadenopathy	ORPHA:83313
Omenn Syndrome	Hepatomegaly, Anemia, Lymphadenopathy, Abnormal lymphocyte morphology, Leukocytosis, Splenomegaly...	ORPHA:39041
Diffuse Cutaneous Mastocytosis	Hepatomegaly, Lymphadenopathy, Lymphocytosis, Myeloproliferative disorder, Abnormality of the spl...	ORPHA:79456
Mulibrey Nanism	Cachexia	ORPHA:2576
Congenital Rubella Syndrome	Intrauterine growth retardation, Microphthalmia, Aplasia/Hypoplasia of the iris, Short stature	ORPHA:290
Bullous Pemphigoid	Psoriasiform dermatitis, Pruritus, Weight loss, Eczematoid dermatitis	ORPHA:703
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis	Skin rash, Palmoplantar pustulosis, Weight loss, Acne, Edema, Psoriasiform dermatitis, Pruritus	ORPHA:324964
Monilethrix	Follicular hyperkeratosis	ORPHA:573
Ciliary Dyskinesia, Primary, 53	Abdominal situs inversus, Hypoplastic spleen, Polysplenia	OMIM:620642
Monilethrix	Perifollicular hyperkeratosis	OMIM:158000
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Neonatal death, Oligohydramnios, Dehydration	OMIM:263200
Papa Syndrome	Lymphadenopathy	ORPHA:69126
Cyclic Neutropenia	Lymphadenopathy, Recurrent tonsillitis, Decreased eosinophil count, Thrombocytopenia, Peritonitis...	ORPHA:2686
Warburg Micro Syndrome 1	Short stature, Microphthalmia	OMIM:600118
Kaposi Sarcoma	Abnormality of the liver, Generalized lymphadenopathy, Abnormality of the spleen	ORPHA:33276
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome	Cachexia	ORPHA:1144
Renal Hypoplasia	Dehydration, Small for gestational age	ORPHA:93101
Leopard Syndrome 3	Hyperkeratosis, Epidermal hyperkeratosis	OMIM:613707
Multicentric Reticulohistiocytosis	Cachexia	ORPHA:139436
Spinocerebellar Ataxia 34	Erythroderma, Epidermal hyperkeratosis	OMIM:133190
Costello Syndrome	Failure to thrive in infancy, Hyperkeratosis, Polyhydramnios, Acanthosis nigricans	ORPHA:3071
Roifman Syndrome	Eosinophilia, Lymphadenopathy, Hepatomegaly, Splenomegaly	OMIM:616651
Pearson Marrow-Pancreas Syndrome	Steatorrhea, Hydrops fetalis, Death in childhood, Dehydration, Failure to thrive, Small for gesta...	OMIM:557000
Pierpont Syndrome	Short stature, Microphthalmia	OMIM:602342
Muscular Dystrophy, Congenital, Davignon-Chauveau Type	Follicular hyperkeratosis	OMIM:617066
Medullary Thyroid Carcinoma	Abnormal liver parenchyma morphology, Lymphadenopathy	ORPHA:1332
Methylmalonic Aciduria, Cblb Type	Failure to thrive, Dehydration	OMIM:251110
Poikiloderma With Neutropenia	Hyperkeratosis, Skin rash, Palmoplantar keratoderma, Edema, Plantar hyperkeratosis	OMIM:604173
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency	Failure to thrive, Decreased circulating cortisol level, Dehydration	ORPHA:90791
Linear Verrucous Nevus Syndrome	Hyperkeratosis	ORPHA:2611
Aregenerative Anemia	Erythroid hypoplasia, Lymphadenopathy, Pancytopenia, Abnormal proportion of CD8-positive T cells,...	ORPHA:101096
Diencephalic Syndrome	Cachexia, Decreased body weight	ORPHA:1672
Darier-White Disease	Acrokeratosis, Acantholysis, Pruritus, Subungual hyperkeratotic fragments	OMIM:124200
Majeed Syndrome	Cachexia, Failure to thrive, Pustule, Inflammatory abnormality of the skin, Weight loss, Acne, Edema	ORPHA:77297
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies	Microcytic anemia, Hepatosplenomegaly, Lymphadenopathy	OMIM:619750
Macrophage Activation Syndrome	Hepatomegaly, Anemia, Lymphadenopathy, Hemophagocytosis, Abnormal natural killer cell count, Thro...	ORPHA:158061
Purine Nucleoside Phosphorylase Deficiency	Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, Pure red cell ...	OMIM:613179
Pulmonary Non-Tuberculous Mycobacterial Infection	Lymphadenopathy	ORPHA:411703
Seckel Syndrome 2	Short stature, Microphthalmia, Growth delay	OMIM:606744
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Anemia, Lymphadenopathy, Decreased FOXP3-expressing T cell count, Thrombocytopenia, Coombs-positi...	OMIM:304790
Immunodeficiency 91 And Hyperinflammation	Hepatomegaly, Lymphadenopathy, Hemophagocytosis, Neutrophilia, Hepatosplenomegaly, Thrombocytopen...	OMIM:619644
Methylmalonic Aciduria, Cbla Type	Failure to thrive, Dehydration	OMIM:251100
3-Hydroxy-3-Methylglutaric Aciduria	Edema, Dehydration, Weight loss	ORPHA:20
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Hyperkeratosis, Death in infancy	ORPHA:163966
Familial Keratoacanthoma	Hyperkeratosis	ORPHA:493
Proteasome-Associated Autoinflammatory Syndrome 2	Lymphadenopathy, B lymphocytopenia, Thrombocytopenia, Decreased proportion of memory B cells, Inc...	OMIM:618048
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures	Short stature, Optic nerve hypoplasia, Microphthalmia, Mild short stature	OMIM:614833
Lissencephaly 8	Occipital encephalocele, Microphthalmia	OMIM:617255
Palmoplantar Carcinoma, Multiple Self-Healing	Palmoplantar keratoderma, Parakeratosis, Follicular hyperkeratosis	OMIM:615225
Meckel Syndrome, Type 5	Occipital encephalocele, Microphthalmia, Anencephaly	OMIM:611561
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal	Hypertriglyceridemia, Sclerodactyly, Orthokeratotic hyperkeratosis, Palmoplantar keratoderma, Hyp...	OMIM:610644
Congenital Muscular Dystrophy Due To Lmna Mutation	Cachexia, Death in infancy	ORPHA:157973
Developmental And Epileptic Encephalopathy 1	Growth delay, Microphthalmia	OMIM:308350
Pierpont Syndrome	Microphthalmia	ORPHA:487825
Linear Skin Defects With Multiple Congenital Anomalies 2	Short stature, Microphthalmia	OMIM:300887
Bresek Syndrome	Intrauterine growth retardation, Optic nerve hypoplasia, Microphthalmia, Growth delay	ORPHA:85284
Immunodeficiency 10	Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Abnormal lymphocyte count, Splenomega...	OMIM:612783
Osteosarcoma	Joint swelling, Weight loss	ORPHA:668
Meckel Syndrome, Type 4	Microphthalmia, Anencephaly, Encephalocele, Meningocele, Intrauterine growth retardation	OMIM:611134
American Trypanosomiasis	Lymphadenopathy, Hepatomegaly, Splenomegaly	ORPHA:3386
Roifman Syndrome	Eosinophilia, Hepatosplenomegaly, Lymphadenopathy	ORPHA:353298
Psoriasis 14, Pustular	Parakeratosis, Pustule, Psoriasiform dermatitis	OMIM:614204
3-Methylglutaconic Aciduria, Type Viib	Polyhydramnios, Dehydration	OMIM:616271
Arrhinia-Choanal Atresia-Microphthalmia Syndrome	Microphthalmia	ORPHA:1135
Anterior Segment Dysgenesis 5	Rieger anomaly, Microphthalmia, Hypoplasia of the fovea, Hypoplasia of the iris	OMIM:604229
Combined Immunodeficiency Due To Crac Channel Dysfunction	Hepatomegaly, Lymphadenopathy, Thrombocytopenia, Splenomegaly, Hemolytic anemia	ORPHA:169090
Hereditary Mucoepithelial Dysplasia	Hyperkeratosis	ORPHA:1839
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency	Death in childhood, Dehydration	OMIM:246450
Ring Chromosome 10 Syndrome	Intrauterine growth retardation, Microphthalmia	ORPHA:1438
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability	Microphthalmia	ORPHA:1473
Acute Myelomonocytic Leukemia	Weight loss	ORPHA:517
Cinca Syndrome	Hepatomegaly, Anemia, Lymphadenopathy, Leukocytosis, Abnormal granulocyte morphology, Splenomegal...	ORPHA:1451
Acute Monoblastic/Monocytic Leukemia	Anemia, Lymphocytosis, Acute monocytic leukemia, Leukocytosis, Hypochromic anemia, Cervical lymph...	ORPHA:514
Castleman Disease	Jaundice, Mediastinal lymphadenopathy, Lymphadenopathy, Anemia, Thrombocytopenia, Decreased mean ...	ORPHA:160
Wolman Disease	Cachexia, Steatorrhea, Ascites	ORPHA:75233
Baraitser-Winter Syndrome 2	Short stature, Microphthalmia	OMIM:614583
Congenital Primary Aphakia	Microphthalmia, Aniridia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Congenita...	ORPHA:83461
Microphthalmia, Syndromic 8	Microphthalmia	OMIM:601349
Immunodeficiency With Hyper-Igm, Type 1	Cirrhosis, Hepatomegaly, Sclerosing cholangitis, Chronic hepatitis, Enlarged tonsils, Thrombocyto...	OMIM:308230
Scrub Typhus	Lymphadenopathy, Splenomegaly	ORPHA:83317
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome	Microphthalmia, Rhizomelia	ORPHA:93267
Felty Syndrome	Hepatomegaly, Anemia, Lymphadenopathy, Abnormal lymphocyte morphology, Bone marrow hypocellularit...	ORPHA:47612
Huntington Disease-Like 2	Weight loss	OMIM:606438
Hereditary Sensory And Autonomic Neuropathy Type 1	Hyperkeratosis	ORPHA:36386
Dend Syndrome	Dehydration	ORPHA:79134
Granulomatous Disease, Chronic, Autosomal Recessive, 1	Hepatomegaly, Liver abscess, Lymphadenopathy, Lymphadenitis, Splenomegaly, Impaired oxidative bur...	OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2	Hepatomegaly, Liver abscess, Lymphadenopathy, Lymphadenitis, Splenomegaly, Impaired oxidative bur...	OMIM:233710
Melkersson-Rosenthal Syndrome	Lymphadenopathy	ORPHA:2483
Trichothiodystrophy 1, Photosensitive	Hyperkeratosis, Death in infancy, Congenital nonbullous ichthyosiform erythroderma, Erythroderma,...	OMIM:601675
Amelo-Onycho-Hypohidrotic Syndrome	Hyperkeratosis	ORPHA:1028
Donohue Syndrome	Hyperkeratosis, Severe failure to thrive, Acanthosis nigricans	OMIM:246200
Tyrosinemia Type 2	Palmoplantar keratoderma, Hyperkeratosis	ORPHA:28378
Joint Contractures, Osteochondromas, And B-Cell Lymphoma	Generalized lymphadenopathy	OMIM:620232
Hidrotic Ectodermal Dysplasia, Halal Type	Follicular hyperkeratosis	ORPHA:1809
Microcephaly 20, Primary, Autosomal Recessive	Intrauterine growth retardation, Optic nerve hypoplasia, Microphthalmia, Short stature	OMIM:617914
Hypohidrotic Ectodermal Dysplasia	Failure to thrive, Hyperkeratosis, Xerostomia, Eczematoid dermatitis	ORPHA:238468
Cholera	Miscarriage, Dehydration	ORPHA:173
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11	Optic nerve hypoplasia, Microphthalmia	OMIM:615181
Cutaneous Neuroendocrine Carcinoma	Lymphoid leukemia, Chronic noninfectious lymphadenopathy	ORPHA:79140
Prolidase Deficiency	Palmoplantar keratoderma, Hyperkeratosis, Crusting erythematous dermatitis, Pruritus	ORPHA:742
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome	Microphthalmia	OMIM:601794
Anaplastic Thyroid Carcinoma	Lymphadenopathy	ORPHA:142
Rodrigues Blindness	Short stature, Microphthalmia	OMIM:268320
Isolated Permanent Neonatal Diabetes Mellitus	Failure to thrive, Dehydration, Weight loss	ORPHA:99885
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1	Microphthalmia	OMIM:613155
Bartter Syndrome Type 4	Severe failure to thrive, Polyhydramnios, Dehydration, Failure to thrive, Hyperaldosteronism, Sma...	ORPHA:89938
Yao Syndrome	Xerostomia, Skin rash, Inflammatory abnormality of the skin, Weight loss	OMIM:617321
Oligomeganephronia	Dehydration, Small for gestational age	ORPHA:2260
Granulomatous Disease, Chronic, Autosomal Recessive, 4	Hepatomegaly, Liver abscess, Lymphadenopathy, Lymphadenitis, Splenomegaly, Impaired oxidative bur...	OMIM:233690
Spondylo-Ocular Syndrome	Short stature, Microphthalmia, Disproportionate short-trunk short stature, Aplasia/Hypoplasia of ...	ORPHA:85194
Chronic Mucocutaneous Candidiasis	Hyperkeratosis, Pruritus, Skin rash	ORPHA:1334
Adult-Onset Still Disease	Hepatomegaly, Anemia, Lymphadenopathy, Leukocytosis, Bone marrow hypocellularity, Neutrophilia, S...	ORPHA:829
Deafness, X-Linked 7	Unilateral microphthalmos	OMIM:301018
Microphthalmia, Syndromic 5	Short stature, Optic nerve hypoplasia, Microphthalmia, Anophthalmia	OMIM:610125
Pelvis-Shoulder Dysplasia	Short stature, Microphthalmia, Spina bifida occulta	OMIM:169550
Temtamy Syndrome	Microphthalmia	ORPHA:1777
Autoinflammation With Arthritis And Dyskeratosis	Failure to thrive, Palmoplantar hyperkeratosis, Follicular hyperkeratosis	OMIM:617388
Developmental Delay With Variable Neurologic And Brain Abnormalities	Microphthalmia	OMIM:619694
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome	Microphthalmia	ORPHA:363741
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency	Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Neutropenia in presence of anti-neutr...	ORPHA:436159
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked	Failure to thrive in infancy, Hyperkeratosis	OMIM:301220
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis	Parakeratosis, Ichthyosis, Orthokeratosis, Pruritus	OMIM:607626
Ullrich Congenital Muscular Dystrophy 1A	Failure to thrive, Slender build, Follicular hyperkeratosis	OMIM:254090
Hereditary Central Diabetes Insipidus	Weight loss	ORPHA:30925
Vipoma	Dehydration, Ascites, Weight loss, Increased circulating cortisol level	ORPHA:97282
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Autoimmune hemolytic anemia, Lymphadenopathy, B lymphocytopenia, T lymphocytopenia, Enlarged tons...	OMIM:606367
Autosomal Dominant Keratitis	Bilateral microphthalmos, Aniridia, Hypoplastic iris stroma, Hypoplasia of the fovea, Macular hyp...	ORPHA:2334
Osteoporosis-Pseudoglioma Syndrome	Short stature, Microphthalmia	ORPHA:2788
Bartter Syndrome, Type 3	Dehydration, Hyperaldosteronism	OMIM:607364
Braddock-Carey Syndrome 2	Microphthalmia	OMIM:619981
Familial Pancreatic Carcinoma	Jaundice, Lymphadenopathy, Peritoneal abscess, Hepatosplenomegaly, Exocrine pancreatic insufficie...	ORPHA:1333
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Microphthalmia	OMIM:602501
Neuropathy, Congenital Hypomyelinating, 3	Cachexia, Polyhydramnios, Neonatal death	OMIM:618186
Singleton-Merten Syndrome 2	Hyperkeratosis	OMIM:616298
Proteasome-Associated Autoinflammatory Syndrome 3	Hepatomegaly, Anemia, Lymphadenopathy, Thrombocytopenia, Splenomegaly, Lymphopenia	OMIM:617591
Frontonasal Dysplasia 1	Cranium bifidum occultum, Microphthalmia, Anterior basal encephalocele	OMIM:136760
Reactive Arthritis	Joint swelling, Hyperkeratosis, Pustule, Weight loss	ORPHA:29207
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome	Microphthalmia	ORPHA:231736
Oculopharyngodistal Myopathy	Weight loss	ORPHA:98897
Wilson Disease	Increased body weight, Failure to thrive, Weight loss, Joint swelling, Pruritus	ORPHA:905
Acute Radiation Syndrome	Hyperkeratosis, Inflammatory abnormality of the skin	ORPHA:454831
Benign Recurrent Intrahepatic Cholestasis	Pruritus, Weight loss	ORPHA:65682
Thymic Neuroendocrine Tumor	Neoplasm of the thymus, Pancreatic islet cell adenoma, Mediastinal lymphadenopathy, Chronic nonin...	ORPHA:97289
Systemic Mastocytosis With Associated Hematologic Neoplasm	Normocytic anemia, Hepatomegaly, Lymphadenopathy, Normochromic anemia, Acute myeloid leukemia, Ch...	ORPHA:98849
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts	Microphthalmia	OMIM:613730
Legionnaires Disease	Jaundice, Pancreatitis, Lymphadenopathy, Bone marrow hypocellularity, Splenomegaly, Lymphopenia, ...	ORPHA:549
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome	Epidermal hyperkeratosis, Lymphedema, Nonimmune hydrops fetalis, Palpebral edema	OMIM:137940
Sialidosis Type 1	Hyperkeratosis	ORPHA:812
Matthew-Wood Syndrome	Intrauterine growth retardation, Microphthalmia, Anophthalmia	ORPHA:2470
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Jaundice, Hepatomegaly, Anemia, Abnormal natural killer cell count, Pancytopenia, Portal hyperten...	ORPHA:79124
Juvenile Huntington Disease	Weight loss	ORPHA:248111
Microphthalmia-Microtia-Fetal Akinesia Syndrome	Microphthalmia	ORPHA:2547
Familial Hemophagocytic Lymphohistiocytosis	Cholestatic liver disease, Jaundice, Hepatomegaly, Lymphadenopathy, Hemophagocytosis, Anemia, Thr...	ORPHA:540
Systemic Capillary Leak Syndrome	Pulmonary edema, Pedal edema, Pleural effusion, Weight loss	ORPHA:188
Hemophagocytic Lymphohistiocytosis, Familial, 2	Jaundice, Hepatomegaly, Lymphadenopathy, Hemophagocytosis, Pancytopenia, Anemia, Leukopenia, Hepa...	OMIM:603553
Hemophagocytic Lymphohistiocytosis, Familial, 1	Jaundice, Hepatomegaly, Lymphadenopathy, Hemophagocytosis, Anemia, Leukopenia, Splenomegaly, Thro...	OMIM:267700
Autoinflammation, Panniculitis, And Dermatosis Syndrome	Neutrophilia, Leukocytosis, Lymphadenopathy, Increased proportion of CD4-positive T cells	OMIM:617099
Immunodeficiency, Common Variable, 8, With Autoimmunity	Autoimmune hemolytic anemia, Lymphadenopathy, Pancytopenia, Decreased proportion of class-switche...	OMIM:614700
Naxos Disease	Diffuse palmoplantar hyperkeratosis, Hyperkeratosis, Subungual hyperkeratosis, Palmoplantar kerat...	OMIM:601214
Oculocutaneous Albinism Type 1A	Thickened skin, Hyperkeratosis	ORPHA:79431
Attrv30M Amyloidosis	Weight loss	ORPHA:85447
Nephrogenic Diabetes Insipidus	Failure to thrive, Polyhydramnios, Hypernatremic dehydration	ORPHA:223
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome	Intrauterine growth retardation, Microphthalmia, Encephalocele	ORPHA:228390
Hyperimmunoglobulinemia D With Periodic Fever	Hepatomegaly, Lymphadenopathy, Peritonitis	ORPHA:343
Cornea Plana 2, Autosomal Recessive	Microphthalmia	OMIM:217300
Shigellosis	Failure to thrive in infancy, Dehydration	ORPHA:810
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency	Increased B cell count, Absent peripheral lymph nodes in presence of infection, Increased T cell ...	ORPHA:98813
Lig4 Syndrome	Acute leukemia, Hepatomegaly, Lymphadenopathy, Pancytopenia, Leukocytosis	ORPHA:99812
Subaortic Stenosis-Short Stature Syndrome	Short stature, Microphthalmia	ORPHA:3191
Microphthalmia/Coloboma 12	Growth delay, Microphthalmia, Optic nerve aplasia	OMIM:120200
Frontonasal Dysplasia 3	Microphthalmia	OMIM:613456
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative	Impaired lymphocyte transformation with phytohemagglutinin, Absent peripheral lymph nodes in pres...	OMIM:600802
Focal Myositis	Weight loss	ORPHA:48918
Anterior Segment Dysgenesis 2	Microphthalmia, Anterior segment of eye aplasia, Congenital aphakia, Aniridia	OMIM:610256
Alpha-N-Acetylgalactosaminidase Deficiency Type 2	Hyperkeratosis, Lymphedema	ORPHA:79280
Alexander Disease Type I	Cachexia, Failure to thrive	ORPHA:363717
Alternating Hemiplegia Of Childhood	Failure to thrive, Dehydration	ORPHA:2131
Trisomy 13	Intrauterine growth retardation, Microphthalmia, Aplasia/Hypoplasia of the iris, Anophthalmia	ORPHA:3378
Chediak-Higashi Syndrome	Jaundice, Hepatomegaly, Lymphadenopathy, Hemophagocytosis, Anemia, Leukopenia, Splenomegaly, Impa...	OMIM:214500
Immunodeficiency 55	Absent natural killer cells, Neutropenia, Lymphadenopathy, Lymphopenia	OMIM:617827
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Hepatomegaly, Anemia, Lymphadenopathy, Cholestasis, Lymphadenitis, Leukocytosis, Splenomegaly, He...	OMIM:615895
Idiopathic Chronic Eosinophilic Pneumonia	Atopic dermatitis, Pleural effusion, Weight loss	ORPHA:2902
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant	Hyperkeratosis, Ichthyosis, Recurrent bacterial skin infections	OMIM:148210
Sandestig-Stefanova Syndrome	Intrauterine growth retardation, Microphthalmia	OMIM:618804
Mirage Syndrome	Anemia, Hypoplastic spleen, Thrombocytopenia, Leukopenia, Lymphopenia	OMIM:617053
Triokinase And Fmn Cyclase Deficiency Syndrome	Microphthalmia	OMIM:618805
Cystic Fibrosis	Failure to thrive, Steatorrhea, Dehydration	OMIM:219700
Christianson Syndrome	Cachexia, Death in early adulthood	ORPHA:85278
Hirschsprung Disease	Failure to thrive in infancy, Weight loss	ORPHA:388
Primary Intestinal Lymphangiectasia	Pleural effusion, Ascites, Generalized edema, Pericardial effusion, Weight loss, Edema	ORPHA:90362
Infantile Nephropathic Cystinosis	Failure to thrive, Dehydration	ORPHA:411629
Inflammatory Bowel Disease 11	Weight loss	OMIM:191390
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Failure to thrive, Hydrops fetalis, Dehydration	ORPHA:79282
Acute Promyelocytic Leukemia	Anemia, Lymphadenopathy, Pancytopenia, Leukocytosis, Leukopenia, Thrombocytopenia, Neutropenia	ORPHA:520
Anterior Segment Dysgenesis 7	Buphthalmos, Microphthalmia	OMIM:269400
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency	Failure to thrive, Decreased circulating cortisol level, Dehydration	ORPHA:168558
17Q12 Microduplication Syndrome	Microphthalmia	ORPHA:261272
Malt Lymphoma	Anemia, Mediastinal lymphadenopathy, Lymphadenopathy	ORPHA:52417
Holocarboxylase Synthetase Deficiency	Perioral eczema, Weight loss, Eczematoid dermatitis	ORPHA:79242
Solitary Median Maxillary Central Incisor	Short stature, Microphthalmia, Anophthalmia	OMIM:147250
Poems Syndrome	Pleural effusion, Ascites, Thickened skin, Pericardial effusion, Weight loss, Edema, Abnormality ...	ORPHA:2905
Nodular Non-Suppurative Panniculitis	Edema, Weight loss	ORPHA:33577
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency	Failure to thrive, Decreased circulating cortisol level, Dehydration	ORPHA:289548
Allergic Bronchopulmonary Aspergillosis	Weight loss	ORPHA:1164
Inflammatory Pseudotumor Of The Liver	Weight loss	ORPHA:90003
Microphthalmia-Brain Atrophy Syndrome	Bilateral microphthalmos	ORPHA:77299
Dopamine Beta-Hydroxylase Deficiency	Dehydration	ORPHA:230
Fetal Alcohol Syndrome	Intrauterine growth retardation, Microphthalmia, Short stature	ORPHA:1915
Mevalonic Aciduria	Fluctuating splenomegaly, Anemia, Lymphadenopathy, Leukocytosis, Normocytic hypoplastic anemia, H...	OMIM:610377
Bartter Syndrome, Type 1, Antenatal	Polyhydramnios, Dehydration, Failure to thrive, Hyperaldosteronism, Small for gestational age	OMIM:601678
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy	Cachexia, Polyhydramnios	ORPHA:2774
Werner Syndrome	Hyperkeratosis, Slender build, Miscarriage	ORPHA:902
Pyruvate Carboxylase Deficiency	Failure to thrive, Dehydration	ORPHA:3008
Rere-Related Neurodevelopmental Syndrome	Intrauterine growth retardation, Microphthalmia, Postnatal growth retardation	ORPHA:494344
Gallbladder Neuroendocrine Tumor	Biliary tract obstruction, Intermittent jaundice, Chronic noninfectious lymphadenopathy, Biliary ...	ORPHA:100086
Hyper-Igd Syndrome	Lymphadenopathy, Lymphadenitis, Leukocytosis, Neutrophilia, Hepatosplenomegaly, Splenomegaly	OMIM:260920
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome	Hyperkeratosis, Ichthyosis	ORPHA:1005
Premature Aging Syndrome, Penttinen Type	Hyperkeratosis, Corneal stromal edema, Thickened skin, Failure to thrive, Palmoplantar hyperkerat...	OMIM:601812
Hereditary Amyloidosis With Primary Renal Involvement	Hepatomegaly, Anemia, Abnormal lymph node morphology, Lymphadenopathy, Hepatosplenomegaly	ORPHA:85450
Spinocerebellar Ataxia 48	Cachexia	OMIM:618093
Acute Generalized Exanthematous Pustulosis	Lymphadenopathy, Cholestasis, Leukocytosis, Neutrophilia, Eosinophilia, Neutropenia	ORPHA:293173
Periodic Fever, Familial, Autosomal Dominant	Hepatic amyloidosis, Hepatomegaly, Cervical lymphadenopathy	OMIM:142680
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5	Microphthalmia	OMIM:613153
Perry Syndrome	Weight loss	ORPHA:178509
Hypotrichosis And Recurrent Skin Vesicles	Follicular hyperkeratosis	OMIM:613102
Rheumatoid Arthritis	Joint swelling, Weight loss	OMIM:180300
Joubert Syndrome 37	Short stature, Microphthalmia	OMIM:619185
Common Variable Immunodeficiency	Lymphadenopathy, Splenomegaly, Lymphopenia, Abnormality of the liver, Autoimmune thrombocytopenia...	ORPHA:1572
Trichothiodystrophy 3, Photosensitive	Intrauterine growth retardation, Microphthalmia, Short stature	OMIM:616395
Hypocomplementemic Urticarial Vasculitis	Lymphadenopathy, Hepatomegaly, Splenomegaly	ORPHA:36412
Fucosidosis	Failure to thrive, Generalized hyperkeratosis	ORPHA:349
X-Linked Agammaglobulinemia	Recurrent cutaneous abscess formation, Failure to thrive, Skin rash, Weight loss	ORPHA:47
Wild Type Attr Amyloidosis	Pleural effusion, Pulmonary edema, Pedal edema, Weight loss	ORPHA:330001
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy	Buphthalmos, Microphthalmia	OMIM:212550
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1	Large for gestational age, Polyhydramnios, Ichthyosis, Hyperkeratosis, Eczematoid dermatitis, Fai...	OMIM:607721
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency	Miscarriage, Dehydration, Failure to thrive, Decreased circulating cortisol level, Weight loss, Acne	ORPHA:90794
Fanconi Anemia, Complementation Group I	Intrauterine growth retardation, Optic nerve hypoplasia, Microphthalmia, Short stature	OMIM:609053
Oculotrichoanal Syndrome	Microphthalmia, Anophthalmia	ORPHA:2717
Mixed Connective Tissue Disease	Hepatomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Leukopenia, Splenomegaly, Hemolytic a...	ORPHA:809
Mycetoma	Cobblestone-like hyperkeratosis, Recurrent bacterial skin infections	ORPHA:2583
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	Growth delay, Microphthalmia, Anophthalmia	ORPHA:77298
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type	Intrauterine growth retardation, Microphthalmia, Postnatal growth retardation	ORPHA:2728
Cardiofaciocutaneous Syndrome	Ichthyosis, Hyperkeratosis, Lymphedema, Palmoplantar keratoderma, Failure to thrive in infancy	ORPHA:1340
Microsporidiosis	Cachexia, Dehydration, Weight loss	ORPHA:2552
Carcinoid Syndrome	Hepatic necrosis, Chronic noninfectious lymphadenopathy	ORPHA:100093
Oculocerebrorenal Syndrome Of Lowe	Dehydration, Death in infancy, Failure to thrive, Hyperaldosteronism, Joint swelling, Hypercholes...	ORPHA:534
Pearson Syndrome	Steatorrhea, Hydrops fetalis, Corneal stromal edema, Dehydration, Small for gestational age	ORPHA:699
Punctate Palmoplantar Keratoderma Type 1	Hyperkeratotic papule, Palmoplantar hyperkeratosis, Palmoplantar keratoderma, Hypergranulosis, Or...	ORPHA:79501
Garg-Mishra Progeroid Syndrome	Short stature, Microphthalmia, Postnatal growth retardation	OMIM:620601
Monosomy 18P	Short stature, Microphthalmia	ORPHA:1598
Inflammatory Bowel Disease (Crohn Disease) 1	Weight loss	OMIM:266600
Drug Reaction With Eosinophilia And Systemic Symptoms	Skin rash, Angioedema, Pustule, Weight loss, Erythroderma	ORPHA:139402
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Cholestatic liver disease, Cirrhosis, Hepatomegaly, Anemia, Lymphadenopathy, Accessory spleen, Mi...	OMIM:619418
Colchicine Poisoning	Dehydration	ORPHA:31824
Ménétrier Disease	Peripheral edema, Weight loss	ORPHA:2494
Hydrolethalus	Microphthalmia, Anencephaly, Anophthalmia	ORPHA:2189
Neurodevelopmental, Jaw, Eye, And Digital Syndrome	Microphthalmia, Lens coloboma, Umbilical hernia	OMIM:618914
Baraitser-Winter Syndrome 1	Short stature, Microphthalmia, Postnatal growth retardation	OMIM:243310
Cardiofaciocutaneous Syndrome 1	Polyhydramnios, Ichthyosis, Hyperkeratosis, Atopic dermatitis, Failure to thrive	OMIM:115150
Bartter Syndrome, Type 2, Antenatal	Polyhydramnios, Dehydration, Failure to thrive, Hyperaldosteronism, Small for gestational age	OMIM:241200
Fanconi Anemia, Complementation Group R	Growth delay, Microphthalmia	OMIM:617244
Mcdonough Syndrome	Cachexia	ORPHA:2471
Ectodermal Dysplasia-Blindness Syndrome	Hyperkeratosis	ORPHA:1806
Kid Syndrome	Recurrent cutaneous fungal infections, Congenital ichthyosiform erythroderma, Recurrent bacterial...	ORPHA:477
Fanconi Anemia, Complementation Group S	Short stature, Microphthalmia	OMIM:617883
Agammaglobulinemia, X-Linked	Anemia, B lymphocytopenia, Hepatocellular carcinoma, Enteroviral hepatitis, T lymphocytopenia, Ly...	OMIM:300755
Nance-Horan Syndrome	Microphthalmia	ORPHA:627
Distal Renal Tubular Acidosis	Failure to thrive, Dehydration	ORPHA:18
Pneumocystosis	Chronic oral candidiasis, Pleural effusion, Weight loss	ORPHA:723
Huntington Disease	Decreased body mass index, Weight loss	ORPHA:399
Bone Dysplasia, Lethal Holmgren Type	Failure to thrive, Weight loss	ORPHA:1842
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects	Stillbirth, Parakeratosis, Hyperkeratosis, Congenital ichthyosiform erythroderma, Orthokeratosis	OMIM:308050
Neurooculocardiogenitourinary Syndrome	Microphthalmia	OMIM:618652
Cronkhite-Canada Syndrome	Cachexia, Lymphedema	ORPHA:2930
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies	Ethmoidal encephalocele, Optic nerve hypoplasia, Bilateral microphthalmos	OMIM:607597
Juvenile Nephropathic Cystinosis	Failure to thrive, Dehydration	ORPHA:411634
Frontofacionasal Dysplasia	Short stature, Microphthalmia, Encephalocele	ORPHA:1791
Severe Generalized Junctional Epidermolysis Bullosa	Pyoderma, Dehydration, Failure to thrive, Edema, Recurrent skin infections	ORPHA:79404
Mitochondrial Neurogastrointestinal Encephalomyopathy	Cachexia, Weight loss	ORPHA:298
Granulomatous Disease, Chronic, X-Linked	Hepatomegaly, Liver abscess, Lymphadenopathy, Lymphadenitis, Splenomegaly, Impaired oxidative bur...	OMIM:306400
Cystinosis, Nephropathic	Failure to thrive, Failure to thrive in infancy, Weight loss, Dehydration	OMIM:219800
Trichorhinophalangeal Syndrome, Type Iii	Epidermal hyperkeratosis	OMIM:190351
Adrenocortical Carcinoma	Elevated serum 11-deoxycortisol, Increased body weight, Hyperaldosteronism, Weight loss, Paradoxi...	ORPHA:1501
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome	Intrauterine growth retardation, Microphthalmia	ORPHA:1352
Congenital Muscular Dystrophy With Cerebellar Involvement	Occipital encephalocele, Microphthalmia, Optic nerve hypoplasia	ORPHA:370959
Sting-Associated Vasculopathy, Infantile-Onset	Anemia, Paratracheal lymphadenopathy, Leukopenia, Lymphopenia, Thrombocytosis, Follicular hyperpl...	OMIM:615934
Bone Marrow Failure Syndrome 3	Failure to thrive, Hyperkeratosis, Eczematoid dermatitis	OMIM:617052
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia	Lymphadenopathy, Lymphocytosis, Decreased mean platelet volume, Thrombocytopenia, Cervical lympha...	OMIM:617718
Ectodermal Dysplasia-Skin Fragility Syndrome	Failure to thrive, Palmoplantar keratoderma, Recurrent skin infections, Chapped lip, Pruritus, Fo...	ORPHA:158668
Bartsocas-Papas Syndrome 2	Microphthalmia	OMIM:619339
Odontoonychodermal Dysplasia	Palmoplantar hyperkeratosis, Hypergranulosis, Orthokeratosis, Plantar hyperkeratosis, Follicular ...	OMIM:257980
Pulmonary Capillary Hemangiomatosis	Mediastinal lymphadenopathy, Lymphadenopathy	ORPHA:199241
Neuroleptic Malignant Syndrome	Dehydration	ORPHA:94093
Warburg Micro Syndrome 4	Short stature, Microphthalmia, Severe postnatal growth retardation	OMIM:615663
Kikuchi-Fujimoto Disease	Hepatomegaly, Abnormal lymph node morphology, Lymphadenopathy, Anemia, Lymphocytosis, Leukopenia,...	ORPHA:50918
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness	Short stature, Microphthalmia	OMIM:617306
Huntington Disease-Like 1	Weight loss	ORPHA:157941
Noonan Syndrome 10	Hyperkeratosis, Pleural effusion, Increased nuchal translucency	OMIM:616564
Microphthalmia With Limb Anomalies	Growth delay, Microphthalmia, Postnatal growth retardation, Anophthalmia	OMIM:206920
Isolated Succinate-Coq Reductase Deficiency	Weight loss	ORPHA:3208
Nasopalpebral Lipoma-Coloboma Syndrome	Microphthalmia	OMIM:167730
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Postnatal growth retardation, Microphthalmia, Severe intrauterine growth retardation	OMIM:241410
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2	Cachexia, Failure to thrive in infancy	OMIM:616801
Hermansky-Pudlak Syndrome	Thickened skin, Hyperkeratosis, Weight loss	ORPHA:79430
Primary Fanconi Renotubular Syndrome	Dehydration, Weight loss	ORPHA:3337
Adams-Oliver Syndrome 2	Microphthalmia	OMIM:614219
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12	Microphthalmia, Abnormally large globe	OMIM:615249
Gm1 Gangliosidosis	Thickened skin, Failure to thrive, Hydrops fetalis, Weight loss	ORPHA:354
Carney Triad	Anemia, Mediastinal lymphadenopathy, Lymphadenopathy	ORPHA:139411
Micro Syndrome	Delayed puberty, Microphthalmia, Intrauterine growth retardation, Short stature	ORPHA:2510
Acute Interstitial Pneumonia	Reduced hematocrit, Lymphadenopathy	ORPHA:79126
Marden-Walker Syndrome	Intrauterine growth retardation, Microphthalmia, Postnatal growth retardation	OMIM:248700
Bethlem Muscular Dystrophy	Hyperkeratosis	ORPHA:610
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome	Cachexia	ORPHA:1389
Riboflavin Transporter Deficiency	Cachexia	ORPHA:97229
Graves Disease	Weight loss	OMIM:275000
Mitochondrial Complex Iv Deficiency, Nuclear Type 10	Microphthalmia	OMIM:619053
Graft Versus Host Disease	Jaundice, Lymphadenopathy, Hemophagocytosis, Acute hepatitis, Chronic hepatitis, Hepatosplenomegaly	ORPHA:39812
Nasopalpebral Lipoma-Coloboma Syndrome	Severe postnatal growth retardation, Microphthalmia, Bilateral microphthalmos	ORPHA:2399
Aicardi-Goutieres Syndrome 9	Ascites, Chilblains, Failure to thrive, Pericardial effusion, Weight loss, Edema	OMIM:619487
Liposarcoma	Weight loss	ORPHA:69078
Cap Polyposis	Weight loss	ORPHA:160148
Methylmalonate Semialdehyde Dehydrogenase Deficiency	Microphthalmia	OMIM:614105
Waldenström Macroglobulinemia	Normocytic anemia, Hepatomegaly, Lymphadenopathy, Splenomegaly, Abnormality of neutrophils, Leukemia	ORPHA:33226
Osteopetrosis, Autosomal Recessive 8	Unilateral microphthalmos	OMIM:615085
Cerebrooculofacioskeletal Syndrome 4	Intrauterine growth retardation, Bilateral microphthalmos, Short stature	OMIM:610758
Lymphatic Filariasis	Hyperkeratosis, Lymphedema, Predominantly lower limb lymphedema	ORPHA:2035
Neuroendocrine Tumor Of The Colon	Hepatomegaly, Chronic noninfectious lymphadenopathy	ORPHA:100080
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development	Microphthalmia	OMIM:152950
Chronic Beryllium Disease	Weight loss	ORPHA:133
Hyperoxaluria, Primary, Type I	Dehydration	OMIM:259900
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Dehydration	ORPHA:90038
Temtamy Syndrome	Microphthalmia	OMIM:218340
Paternal Uniparental Disomy Of Chromosome 6	Oligohydramnios, Dehydration	ORPHA:96191
Takayasu Arteritis	Weight loss	ORPHA:3287
Microphthalmia With Brain And Digit Anomalies	Microphthalmia, Anophthalmia	ORPHA:139471
Q Fever	Hepatomegaly, Anemia, Lymphadenopathy, Hepatosplenomegaly, Splenomegaly, Thrombocytopenia, Abnorm...	ORPHA:781
Kanzaki Disease	Hyperkeratosis, Lymphedema	OMIM:609242
Multiple Endocrine Neoplasia Type 1	Dehydration, Primary hypercortisolism, Weight loss, Increased circulating cortisol level	ORPHA:652
Pediatric Systemic Lupus Erythematosus	Lymphadenopathy, Lymphopenia, Thrombocytopenia, Leukopenia, Microangiopathic hemolytic anemia	ORPHA:93552
Peritoneal Cystic Mesothelioma	Weight loss	ORPHA:168816
Budd-Chiari Syndrome	Ascites, Weight loss	ORPHA:131
Renpenning Syndrome	Cachexia	ORPHA:3242
Familial Thrombocytosis	Miscarriage, Pruritus, Weight loss	ORPHA:71493
Autoimmune Lymphoproliferative Syndrome	Lymphocytosis, Reticulocytosis, Bone marrow hypocellularity, Splenomegaly, Lymphopenia, Hepatocel...	ORPHA:3261
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies	Microphthalmia	OMIM:618494
Myoclonic-Astatic Epilepsy	Microphthalmia	ORPHA:1942
Chromosome 17Q12 Duplication Syndrome	Microphthalmia	OMIM:614526
Joubert Syndrome 14	Growth delay, Microphthalmia, Encephalocele, Meningocele	OMIM:614424
Multiple Benign Circumferential Skin Creases On Limbs	Short stature, Microphthalmia, Umbilical hernia	ORPHA:2505
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome	Microphthalmia	ORPHA:163649
Microphthalmia, Syndromic 9	Multilobulated spleen, Hypoplastic spleen	OMIM:601186
T-Cell Immunodeficiency With Thymic Aplasia	Lymphadenopathy, Decreased proportion of naive T cells, T lymphocytopenia, Atypical or prolonged ...	ORPHA:83471
Non-Functioning Paraganglioma	Weight loss	ORPHA:94080
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency	Short stature, Bilateral microphthalmos, Umbilical hernia	ORPHA:369891
Heart And Brain Malformation Syndrome	Growth delay, Microphthalmia	OMIM:616920
Moebius Syndrome	Microphthalmia	OMIM:157900
Idiopathic Bronchiectasis	Cachexia	ORPHA:60033
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Hepatomegaly, Anemia, Lymphadenopathy, Pancytopenia, Leukocytosis, Portal hypertension, Bone marr...	OMIM:615688
Tangier Disease	Anemia, Chronic noninfectious lymphadenopathy, Orange discolored tonsils, Thrombocytopenia, Hepat...	ORPHA:31150
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea	Hepatomegaly, Mediastinal lymphadenopathy, Hilar lymph node enlargement, Cholestasis, Leukocytosis	OMIM:620233
Thyrotoxic Periodic Paralysis, Susceptibility To, 1	Weight loss	OMIM:188580
Stevenson-Carey Syndrome	Microphthalmia	OMIM:611961
Exudative Vitreoretinopathy 2, X-Linked	Microphthalmia	OMIM:305390
Proximal Renal Tubular Acidosis	Failure to thrive, Dehydration	ORPHA:47159
Adenocarcinoma Of The Anal Canal	Neoplasm of the liver, Lymphadenopathy	ORPHA:424016
Mosaic Variegated Aneuploidy Syndrome 7 With Inflammation And Tumor Predisposition	Hyperkeratosis	OMIM:620189
Oculo-Palato-Cerebral Syndrome	Intrauterine growth retardation, Microphthalmia, Short stature	ORPHA:2714
Primary Hepatic Neuroendocrine Carcinoma	Hepatomegaly, Biliary tract obstruction, Intrahepatic cholestasis with episodic jaundice, Intermi...	ORPHA:100085
Histiocytosis-Lymphadenopathy Plus Syndrome	Hepatomegaly, Lymphadenopathy, Retroperitoneal fibrosis, Pancreatic hypoplasia, Hepatosplenomegal...	OMIM:602782
Ritscher-Schinzel Syndrome 3	Postnatal growth retardation, Microphthalmia	OMIM:619135
Acquired Central Diabetes Insipidus	Weight loss	ORPHA:95626
Immunodeficiency 31C	Autoimmune hemolytic anemia, Hepatomegaly, Impaired lymphocyte transformation with phytohemagglut...	OMIM:614162
Warburg Micro Syndrome 3	Postnatal growth retardation, Microphthalmia	OMIM:614222
Otodental Syndrome	Microphthalmia, Lens coloboma	ORPHA:2791
Ramon Syndrome	Hyperkeratosis, Decreased body weight	OMIM:266270
Trichothiodystrophy 4, Nonphotosensitive	Growth delay, Microphthalmia	OMIM:234050
Farber Disease	Anemia, Lymphadenopathy, Intrahepatic cholestasis with episodic jaundice, Hepatosplenomegaly, Thr...	ORPHA:333
Xfe Progeroid Syndrome	Cachexia, Death in adolescence, Failure to thrive, Ascites	OMIM:610965
Thyrotoxic Periodic Paralysis, Susceptibility To, 2	Weight loss	OMIM:613239
Celiac Disease, Susceptibility To, 1	Failure to thrive, Steatorrhea, Weight loss, Eczematoid dermatitis	OMIM:212750
Peripheral Primitive Neuroectodermal Tumor	Pruritus, Ascites, Weight loss	ORPHA:370348
Ifap Syndrome 1, With Or Without Bresheck Syndrome	Death in childhood, Ichthyosis follicularis, Hydromyelia, Hyperkeratosis, Eczematoid dermatitis, ...	OMIM:308205
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome	Weight loss	ORPHA:79127
Lymphoid Interstitial Pneumonia	Failure to thrive, Skin rash, Weight loss, Eczematoid dermatitis	ORPHA:79128
Kapur-Toriello Syndrome	Intrauterine growth retardation, Microphthalmia	OMIM:244300
Curry-Jones Syndrome	Microphthalmia	ORPHA:1553
Leprechaunism	Acanthosis nigricans, Hyperkeratosis, Decreased body weight, Thickened skin, Failure to thrive, H...	ORPHA:508
Polyarteritis Nodosa	Weight loss	ORPHA:767
Manitoba Oculotrichoanal Syndrome	Microphthalmia, Anophthalmia	OMIM:248450
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency	Microphthalmia	ORPHA:404440
Cherubism	Submandibular lymph node enlargement	OMIM:118400
Neuroblastoma	Thrombocytopenia, Anemia, Lymphadenopathy	ORPHA:635
Classic Pantothenate Kinase-Associated Neurodegeneration	Weight loss	ORPHA:216866
Flynn-Aird Syndrome	Cachexia	ORPHA:2047
X-Linked Dominant Chondrodysplasia Punctata	Short stature, Microphthalmia, Severe postnatal growth retardation	ORPHA:35173
Vitreoretinochoroidopathy	Microphthalmia	OMIM:193220
Norrie Disease	Buphthalmos, Microphthalmia, Hypoplasia of the iris	OMIM:310600
Congenital Syphilis	Pancreatitis, Lymphadenopathy, Anemia, Prolonged neonatal jaundice, Hepatosplenomegaly, Thrombocy...	ORPHA:499009
Neuroendocrine Tumor Of The Rectum	Hepatomegaly, Chronic noninfectious lymphadenopathy	ORPHA:100081
Neuroendocrine Tumor Of Anal Canal	Hepatomegaly, Chronic noninfectious lymphadenopathy	ORPHA:100082
Microcephaly-Micromelia Syndrome	Intrauterine growth retardation, Microphthalmia	OMIM:251230
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies	Short stature, Microphthalmia	OMIM:618571
Parkinson Disease 4, Autosomal Dominant	Weight loss	OMIM:605543
Pancreatic Triacylglycerol Lipase Deficiency	Edema, Steatorrhea, Weight loss	ORPHA:309031
Chromosome 1Q41-Q42 Deletion Syndrome	Short stature, Microphthalmia	OMIM:612530
Multiple Myeloma	Lymphadenopathy, Anemia, Splenomegaly	ORPHA:29073
Chédiak-Higashi Syndrome	Jaundice, Anemia, Lymphadenopathy, Hemophagocytosis, Pancytopenia, Abnormal natural killer cell m...	ORPHA:167
Refractory Celiac Disease	Inflammatory abnormality of the skin, Weight loss	ORPHA:398063
Congenital Fibrinogen Deficiency	Microphthalmia	ORPHA:335
Amoebiasis Due To Entamoeba Histolytica	Pleural empyema, Pleural effusion, Weight loss	ORPHA:67
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria	Cachexia	ORPHA:1933
Microphthalmia/Coloboma 9	Microphthalmia	OMIM:615145
Mucoepithelial Dysplasia, Hereditary	Chronic mucocutaneous candidiasis, Follicular hyperkeratosis	OMIM:158310
Tetrasomy 12P	Cachexia	ORPHA:884
Alacrima, Achalasia, And Impaired Intellectual Development Syndrome	Hyperkeratosis	OMIM:615510
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome	Cachexia, Severe failure to thrive	ORPHA:371364
Marburg Hemorrhagic Fever	Skin rash, Dehydration, Maculopapular exanthema	ORPHA:99826
Warburg Micro Syndrome 2	Postnatal growth retardation, Microphthalmia	OMIM:614225
Frontonasal Dysplasia 2	Intrauterine growth retardation, Microphthalmia, Encephalocele	OMIM:613451
Vacterl With Hydrocephalus	Intrauterine growth retardation, Microphthalmia, Anophthalmia, Spina bifida	ORPHA:3412
Frontorhiny	Cranium bifidum occultum, Microphthalmia, Basal encephalocele, Encephalocele	ORPHA:391474
Fanconi Anemia, Complementation Group F	Intrauterine growth retardation, Microphthalmia, Short stature	OMIM:603467
Arthrogryposis And Ectodermal Dysplasia	Hyperkeratosis	OMIM:601701
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Cachexia	ORPHA:42
Bronchial Neuroendocrine Tumor	Hepatomegaly, Chronic noninfectious lymphadenopathy	ORPHA:97287
Cryptogenic Organizing Pneumonia	Weight loss	ORPHA:1302
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Autoimmune hemolytic anemia, Lymphadenopathy, Iron deficiency anemia, Reduced proportion of CD4-n...	ORPHA:37042
Symptomatic Form Of Hfe-Related Hemochromatosis	Joint swelling, Weight loss	ORPHA:465508
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
Refsum Disease	Microphthalmia	ORPHA:773
Incontinentia Pigmenti	Hyperkeratosis, Skin rash	ORPHA:464
Xeroderma Pigmentosum, Complementation Group B	Short stature, Microphthalmia	OMIM:610651
Noonan Syndrome 2	Hyperkeratosis, Polyhydramnios, Nonimmune hydrops fetalis, Increased nuchal translucency	OMIM:605275
Fabry Disease	Hyperkeratosis, Lymphedema, Hyperlipidemia	ORPHA:324
Cohen Syndrome	Delayed puberty, Microphthalmia, Intrauterine growth retardation, Short stature	ORPHA:193
Erdheim-Chester Disease	Xanthelasma, Skin rash, Pleural effusion, Weight loss, Joint swelling	ORPHA:35687
H Syndrome	Histiocytosis, Microcytic anemia, Hepatosplenomegaly, Lymphadenopathy	ORPHA:168569
Galloway-Mowat Syndrome 3	Intrauterine growth retardation, Microphthalmia, Short stature	OMIM:617729
Walker-Warburg Syndrome	Microphthalmia, Anophthalmia	ORPHA:899
Chromosome 13Q33-Q34 Deletion Syndrome	Short stature, Microphthalmia, Anencephaly, Encephalocele	OMIM:619148
3P25.3 Microdeletion Syndrome	Microphthalmia	ORPHA:435638
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome	Microphthalmia, Rhizomelia, Anophthalmia	OMIM:615877
Acrodermatitis Enteropathica	Failure to thrive, Pustule, Weight loss	ORPHA:37
Selective Igm Deficiency	Decreased proportion of CD8-positive T cells, Lymphadenopathy, Decreased proportion of CD3-positi...	ORPHA:331235
Kapur-Toriello Syndrome	Microphthalmia	ORPHA:2328
Familial Exudative Vitreoretinopathy	Microphthalmia	ORPHA:891
Diffuse Alveolar Hemorrhage	Weight loss	ORPHA:90060
Incontinentia Pigmenti	Hyperkeratosis, Maculopapular exanthema	OMIM:308300
Spondyloenchondrodysplasia With Immune Dysregulation	Lymphadenopathy, T lymphocytopenia, Lymphopenia, Autoimmune thrombocytopenia, Neutropenia	OMIM:607944
Martsolf Syndrome 1	Short stature, Microphthalmia	OMIM:212720
Perry Syndrome	Weight loss	OMIM:168605
Rat-Bite Fever	Morbilliform rash, Skin rash, Pustule, Weight loss, Erythema nodosum, Maculopapular exanthema	ORPHA:31205
Insulin-Resistance Syndrome Type B	Acanthosis nigricans, Skin rash, Increased body weight, Decreased body weight, Abnormality of bod...	ORPHA:2298
Pelvis-Shoulder Dysplasia	Bilateral microphthalmos, Hydranencephaly, Neonatal short-trunk short stature, Mesomelic/rhizomel...	ORPHA:2839
Al Amyloidosis	Peripheral edema, Xerostomia, Weight loss	ORPHA:85443
Thymoma	Weight loss, Scleroderma	ORPHA:99867
Xeroderma Pigmentosum	Thickened skin, Failure to thrive, Hyperkeratosis	ORPHA:910
Familial Glucocorticoid Deficiency	Failure to thrive, Decreased circulating cortisol level, Weight loss	ORPHA:361
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes	Cachexia, Xerostomia	OMIM:175500
Caroli Disease	Pruritus, Ascites, Weight loss	ORPHA:53035
Microphthalmia, Syndromic 3	Postnatal growth retardation, Microphthalmia, Anophthalmia, Optic nerve hypoplasia, Short stature...	OMIM:206900
Pelizaeus-Merzbacher Disease	Cachexia, Failure to thrive in infancy	ORPHA:702
Oromandibular Dystonia	Weight loss	ORPHA:93958
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis	Anemia, Hepatosplenomegaly, Lymphadenopathy	ORPHA:85408
Loeffler Endocarditis	Weight loss	ORPHA:75566
Fatal Familial Insomnia	Weight loss	OMIM:600072
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies	Microphthalmia	OMIM:620098
Laryngotracheoesophageal Cleft Type 4	Cachexia	ORPHA:93941
Chondrodysplasia Punctata 2, X-Linked Dominant	Postnatal growth retardation, Microphthalmia, Rhizomelia	OMIM:302960
Stevens-Johnson Syndrome	Acantholysis, Weight loss	ORPHA:36426
Igg4-Related Aortitis	Weight loss	ORPHA:449400
Persistent Hyperplastic Primary Vitreous	Phthisis bulbi, Microphthalmia, Buphthalmos, Macular hypoplasia	ORPHA:91495
1Q21.1 Microdeletion Syndrome	Intrauterine growth retardation, Microphthalmia, Short stature	ORPHA:250989
Oculodentodigital Dysplasia, Autosomal Recessive	Short stature, Microphthalmia	OMIM:257850
Adams-Oliver Syndrome	Microphthalmia, Encephalocele	ORPHA:974
Neuroblastoma, Susceptibility To, 1	Failure to thrive, Weight loss	OMIM:256700
X-Linked Intellectual Disability, Cabezas Type	Cachexia, Obesity, Acanthosis nigricans	ORPHA:85293
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)	Cachexia, Slender build, Weight loss, Death in early adulthood	OMIM:603041
Galloway-Mowat Syndrome 1	Intrauterine growth retardation, Microphthalmia, Short stature, Hypoplasia of the iris	OMIM:251300
3Q29 Microduplication Syndrome	Microphthalmia, Aniridia	ORPHA:251038
Toxic Epidermal Necrolysis	Acantholysis, Weight loss	ORPHA:537
Aicardi-Goutieres Syndrome 7	Skin rash, Chilblains, Atopic dermatitis, Pericardial effusion, Weight loss, Edema, Oligohydramnios	OMIM:615846
Mosaic Trisomy 9	Intrauterine growth retardation, Microphthalmia, Spina bifida	ORPHA:99776
Oculofaciocardiodental Syndrome	Microphthalmia	ORPHA:2712
Subcutaneous Panniculitis-Like T-Cell Lymphoma	Weight loss	ORPHA:86884
6Q Terminal Deletion Syndrome	Hyperkeratosis, Failure to thrive, Obesity	ORPHA:75857
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome	Cachexia, Steatorrhea	ORPHA:3217
Microphthalmia, Lenz Type	Short stature, Microphthalmia	ORPHA:568
Eosinophilic Granulomatosis With Polyangiitis	Skin rash, Weight loss	ORPHA:183
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2	Buphthalmos, Microphthalmia, Encephalocele	OMIM:613150
Basel-Vanagaite-Smirin-Yosef Syndrome	Microphthalmia	OMIM:616449
Glucagonoma	Steatorrhea, Skin rash, Ascites, Weight loss, Pruritus, Increased circulating cortisol level	ORPHA:97280
Nance-Horan Syndrome	Microphthalmia	OMIM:302350
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive	Phthisis bulbi, Microphthalmia, Buphthalmos	OMIM:221900
Tetraamelia-Multiple Malformations Syndrome	Microphthalmia, Septo-optic dysplasia	ORPHA:3301
Trisomy 18	Microphthalmia, Anencephaly, Spina bifida, Short stature, Growth delay, Intrauterine growth retar...	ORPHA:3380
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome	Lymphadenopathy, Leukocytosis, Splenomegaly, Peritonitis	ORPHA:32960
Kindler Epidermolysis Bullosa	Palmoplantar keratoderma, Recurrent skin infections, Hyperkeratosis	ORPHA:2908
Aredyld Syndrome	Cachexia	ORPHA:1133
Idiopathic Hypereosinophilic Syndrome	Portal fibrosis, Cholangitis, Thrombocytosis, Pancreatitis, Anemia, Myeloproliferative disorder, ...	ORPHA:3260
Igg4-Related Submandibular Gland Disease	Cholangitis, Lymphadenopathy, Abnormal pancreas morphology, Eosinophilia, Retroperitoneal fibrosis	ORPHA:449432
Fanconi Anemia, Complementation Group N	Postnatal growth retardation, Microphthalmia	OMIM:610832
Koolen-De Vries Syndrome Due To A Point Mutation	Ichthyosis, Hyperkeratosis, Eczematoid dermatitis, Slender build, Small for gestational age	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Ichthyosis, Hyperkeratosis, Eczematoid dermatitis, Slender build, Small for gestational age	ORPHA:363958
Hennekam Syndrome	Lymphadenopathy, Lymphangioma, Splenomegaly, Pulmonary lymphangiectasia, Lymphopenia	ORPHA:2136
Juvenile Dermatomyositis	Palpebral edema, Pruritus, Weight loss, Skin rash	ORPHA:93672
Whipple Disease	Cachexia, Pedal edema	ORPHA:3452
Encephalocraniocutaneous Lipomatosis	Microphthalmia, Hypoplasia of the iris	OMIM:613001
Chromosome 8Q21.11 Deletion Syndrome	Growth delay, Microphthalmia	OMIM:614230
Malignant Atrophic Papulosis	Pleural effusion, Weight loss	ORPHA:679
Fanconi Anemia, Complementation Group C	Intrauterine growth retardation, Microphthalmia, Short stature	OMIM:227645
Polymyositis	Weight loss	ORPHA:732
Late-Onset Isolated Acth Deficiency	Failure to thrive, Decreased circulating cortisol level, Weight loss	ORPHA:199299
Short Syndrome	Weight loss	ORPHA:3163
Amyotrophic Lateral Sclerosis	Cachexia, Xerostomia	ORPHA:803
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2	Polyhydramnios, Follicular hyperkeratosis	OMIM:614557
Eec Syndrome	Hyperkeratosis, Xerostomia	ORPHA:1896
19Q13.11 Microdeletion Syndrome	Cachexia, Failure to thrive	ORPHA:217346
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Stillbirth, Death in childhood, Hyperkeratosis, Death in infancy, Failure to thrive, Oligohydramnios	OMIM:210710
Familial Mediterranean Fever	Pancreatitis, Lymphadenopathy, Leukocytosis, Splenomegaly, Peritonitis	ORPHA:342
8P23.1 Microdeletion Syndrome	Obesity, Weight loss	ORPHA:251071
Dubowitz Syndrome	Postnatal growth retardation, Microphthalmia, Hypoplasia of the iris, Short stature, Intrauterine...	OMIM:223370
Igg4-Related Retroperitoneal Fibrosis	Deep dermal perivascular inflammatory infiltrate, Psoriasiform dermatitis, Pedal edema, Weight loss	ORPHA:49041
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome	Intrauterine growth retardation, Microphthalmia	ORPHA:364577
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy	Short stature, Microphthalmia, Postnatal growth retardation, Rhizomelia	OMIM:608940
Oculoauricular Syndrome	Microphakia, Microphthalmia, Spina bifida occulta, Phthisis bulbi, Macular hypoplasia	OMIM:612109
Mucolipidosis Type Ii	Thickened skin, Oligohydramnios, Weight loss	ORPHA:576
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Microphthalmia, Encephalocele	OMIM:253800
Dermatomyositis	Skin rash, Heliotrope rash, Weight loss, Periorbital edema, Palmar hyperkeratosis, Edema, Pruritus	ORPHA:221
Coccidioidomycosis	Pancreatitis, Lymphadenopathy, Mediastinal lymphadenopathy, Abnormality of the spleen, Peritoniti...	ORPHA:228123
Chime Syndrome	Hyperkeratosis, Ichthyosis	ORPHA:3474
Anemia, Congenital Dyserythropoietic, Type Iv	Hydrops fetalis, Weight loss	OMIM:613673
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Rhizomelia, Microphthalmia, Severe short stature	ORPHA:85167
Neuroendocrine Tumor Of Stomach	Hepatomegaly, Iron deficiency anemia, Chronic noninfectious lymphadenopathy	ORPHA:100075
Alveolar Echinococcosis	Cutaneous abscess, Pedal edema, Weight loss	ORPHA:284
Imerslund-Gräsbeck Syndrome	Failure to thrive, Weight loss	ORPHA:35858
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Optic nerve hypoplasia, Microphthalmia, Encephalocele	OMIM:614643
Joubert Syndrome 2	Microphthalmia, Encephalocele	OMIM:608091
Ileal Neuroendocrine Tumor	Iron deficiency anemia, Lymphadenopathy, Extrahepatic cholestasis	ORPHA:100078
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Parakeratosis, Seborrheic dermatitis, Superficial dermal perivascular inflammatory infiltrate, Ec...	ORPHA:83617
Oculogastrointestinal Muscular Dystrophy	Cachexia	ORPHA:1876
Lymphangioleiomyomatosis	Abnormality of the lymphatic system, Pulmonary lymphangiomyomatosis, Lymphadenopathy	ORPHA:538
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb	Short stature, Unilateral microphthalmos	OMIM:618874
Hemihyperplasia-Multiple Lipomatosis Syndrome	Seborrheic dermatitis, Hyperparakeratosis	ORPHA:276280
Skin Creases, Congenital Symmetric Circumferential, 1	Microphthalmia	OMIM:156610
Somatostatinoma	Steatorrhea, Ascites, Weight loss, Increased circulating cortisol level	ORPHA:97283
Silver-Russell Syndrome	Cachexia, Obesity, Failure to thrive in infancy	ORPHA:813
Familial Hyperthyroidism Due To Mutations In Tsh Receptor	Small for gestational age, Weight loss	ORPHA:424
Papillorenal Syndrome	Short stature, Microphthalmia	OMIM:120330
Restrictive Dermopathy 1	Stillbirth, Polyhydramnios, Neonatal death, Epidermal hyperkeratosis, Oligohydramnios	OMIM:275210
Curry-Jones Syndrome	Microphthalmia, Occipital meningocele, Lipomyelomeningocele	OMIM:601707
Fanconi Anemia, Complementation Group L	Intrauterine growth retardation, Microphthalmia, Growth delay	OMIM:614083
Pseudotrisomy 13 Syndrome	Microphthalmia, Encephalocele	OMIM:264480
Cousin Syndrome	Disproportionate short stature, Microphthalmia, Rhizomelia, Hydranencephaly	OMIM:260660
Fanconi Anemia, Complementation Group E	Short stature, Microphthalmia	OMIM:600901
Brucellosis	Liver abscess, Anemia, Lymphadenopathy, Hepatomegaly, Leukocytosis, Leukopenia, Splenomegaly, Thr...	ORPHA:1304
Meckel Syndrome 14	Occipital encephalocele, Microphthalmia	OMIM:619879
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Occipital encephalocele, Microphthalmia, Optic nerve hypoplasia, Meningoencephalocele, Buphthalmos	OMIM:236670
Ppoma	Ascites, Weight loss, Increased circulating cortisol level	ORPHA:97278
X-Linked Creatine Transporter Deficiency	Cachexia	ORPHA:52503
Polycythemia Vera	Pruritus, Weight loss	ORPHA:729
Cat Eye Syndrome	Short stature, Microphthalmia, Umbilical hernia	OMIM:115470
Pyomyositis	Recurrent cutaneous abscess formation, Weight loss	ORPHA:764
Duane-Radial Ray Syndrome	Microphthalmia, Optic disc hypoplasia, Spina bifida occulta	OMIM:607323
Solitary Fibrous Tumor	Weight loss	ORPHA:2126
Jacobsen Syndrome	Intrauterine growth retardation, Microphthalmia, Macular hypoplasia	OMIM:147791
Focal Dermal Hypoplasia	Microphthalmia, Hypoplasia of the iris, Spina bifida, Umbilical hernia	ORPHA:2092
Momo Syndrome	Short stature, Bilateral microphthalmos	ORPHA:2563
Fanconi Anemia, Complementation Group A	Short stature, Microphthalmia	OMIM:227650
Autosomal Dominant Kenny-Caffey Syndrome	Postnatal growth retardation, Bilateral microphthalmos, Short stature, Growth delay, Intrauterine...	ORPHA:93325
Linear Nevus Sebaceus Syndrome	Growth delay, Microphthalmia	ORPHA:2612
Infantile Krabbe Disease	Cachexia, Failure to thrive	ORPHA:206436
Sporadic Pheochromocytoma/Secreting Paraganglioma	Weight loss	ORPHA:276621
Pallister-Hall Syndrome	Intrauterine growth retardation, Microphthalmia, Short stature, Growth delay	OMIM:146510
Acrofrontofacionasal Dysostosis 1	Short stature, Microphthalmia	OMIM:201180
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies	Microphthalmia	OMIM:618727
2Q31.1 Microdeletion Syndrome	Short stature, Microphthalmia	ORPHA:251014
Xeroderma Pigmentosum, Complementation Group D	Microphthalmia	OMIM:278730
Kenny-Caffey Syndrome, Type 2	Microphthalmia, Severe short stature	OMIM:127000
Immunodeficiency 82 With Systemic Inflammation	Anemia, Lymphadenopathy, B lymphocytopenia, Decreased proportion of naive T cells, T lymphocytope...	OMIM:619381
Mosaic Variegated Aneuploidy Syndrome	Intrauterine growth retardation, Microphthalmia, Short stature, Growth delay	ORPHA:1052
8Q21.11 Microdeletion Syndrome	Microphthalmia	ORPHA:284160
Monosomy 13Q14	Intrauterine growth retardation, Microphthalmia, Short stature	ORPHA:1587
Giant Cell Arteritis	Weight loss	ORPHA:397
De Sanctis-Cacchione Syndrome	Parakeratosis	OMIM:278800
Hallermann-Streiff Syndrome	Microphthalmia, Spina bifida, Proportionate short stature	OMIM:234100
Juvenile Amyotrophic Lateral Sclerosis	Cachexia	ORPHA:300605
3Q29 Microdeletion Syndrome	Microphthalmia	ORPHA:65286
Anemia, Sideroblastic, And Spinocerebellar Ataxia	Weight loss	OMIM:301310
Teebi-Shaltout Syndrome	Short stature, Microphthalmia	OMIM:272950
Mosaic Trisomy 1	Microphthalmia	ORPHA:1692
Phace Association	Optic nerve hypoplasia, Microphthalmia	OMIM:606519
Glossopharyngeal Neuralgia	Weight loss	ORPHA:221098
Autosomal Recessive Malignant Osteopetrosis	Lymphadenopathy, Hepatomegaly, Anemia, Splenomegaly	ORPHA:667
Gerstmann-Straussler Disease	Weight loss	OMIM:137440
Fryns-Smeets-Thiry Syndrome	Cachexia	ORPHA:2058
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	Microphthalmia, Rhizomelia, Encephalocele	OMIM:616300
Basel-Vanagaite-Smirin-Yosef Syndrome	Microphthalmia	ORPHA:464738
Carney-Stratakis Syndrome	Weight loss	ORPHA:97286
Stromme Syndrome	Optic nerve hypoplasia, Microphthalmia	OMIM:243605
Grfoma	Ascites, Weight loss, Increased circulating cortisol level	ORPHA:97261
Holoprosencephaly	Microphthalmia, Encephalocele, Anophthalmia, Branchial anomaly, Spinal dysraphism	ORPHA:2162
Malakoplakia	Follicular hyperplasia	ORPHA:556
Atypical Werner Syndrome	Hypertriglyceridemia, Failure to thrive, Hyperkeratosis, Decreased body weight	ORPHA:79474
Autoimmune Pulmonary Alveolar Proteinosis	Weight loss	ORPHA:747
Cystic Echinococcosis	Weight loss	ORPHA:400
Pierson Syndrome	Microphthalmia, Hypoplasia of the ciliary body, Hypoplasia of the iris, Rieger anomaly, Macular h...	OMIM:609049
Bannayan-Riley-Ruvalcaba Syndrome	Cachexia, Lymphedema	ORPHA:109
Fryns Syndrome	Microphthalmia	ORPHA:2059
Acute Adrenal Insufficiency	Failure to thrive, Decreased circulating cortisol level, Weight loss	ORPHA:95409
Cockayne Syndrome B	Postnatal growth retardation, Microphthalmia, Hypoplasia of the iris, Severe short stature, Intra...	OMIM:133540
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Failure to thrive, Hyperkeratosis, Ichthyosis, Eczematoid dermatitis	ORPHA:2273
Primary Sclerosing Cholangitis	Pruritus, Pleural effusion, Ascites, Weight loss	ORPHA:171
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3	Hyperkeratosis, Xerostomia	OMIM:604292
Ohdo Syndrome, X-Linked	Microphthalmia	OMIM:300895
Isolated Arrhinia	Microphthalmia	ORPHA:1134
Warburg-Cinotti Syndrome	Joint swelling, Follicular hyperkeratosis	OMIM:618175
Igg4-Related Kidney Disease	Pancreatitis, Lymphadenopathy, Sclerosing cholangitis, Lymphadenitis, Abnormal mesentery morpholo...	ORPHA:449395
Cowden Syndrome	Palmoplantar keratoderma, Failure to thrive, Generalized hyperkeratosis	ORPHA:201
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Intrauterine growth retardation, Microphthalmia, Severe postnatal growth retardation	OMIM:620005
Acro-Renal-Ocular Syndrome	Postnatal growth retardation, Microphthalmia, Optic disc hypoplasia	ORPHA:959
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome	Microphthalmia, Anophthalmia	ORPHA:2250
Monosomy 9Q22.3	Microphthalmia, Umbilical hernia	ORPHA:77301
X-Linked Alport Syndrome-Diffuse Leiomyomatosis	Failure to thrive, Weight loss	ORPHA:1018
Primary Sjögren Syndrome	Normocytic anemia, Lymphadenopathy, Normochromic anemia, Chronic active hepatitis, Biliary cirrho...	ORPHA:289390
Chronic Graft Versus Host Disease	Morphea, Pleural effusion, Ascites, Thickened skin, Weight loss, Xerostomia	ORPHA:99921
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1	Hyperkeratosis, Xerostomia	OMIM:129900
Sarcoidosis	Abnormal liver parenchyma morphology, Hepatomegaly, Abnormal lymph node morphology, Lymphadenopat...	ORPHA:797
Xeroderma Pigmentosum-Cockayne Syndrome Complex	Cachexia, Skin rash	ORPHA:220295
Blepharophimosis, Ptosis, And Epicanthus Inversus	Microphthalmia	OMIM:110100
Familial Colorectal Cancer Type X	Weight loss	ORPHA:440437
Sarcoidosis, Susceptibility To, 1	Hepatomegaly, Mediastinal lymphadenopathy, Pancytopenia, Splenomegaly, Generalized lymphadenopathy	OMIM:181000
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart	Intrauterine growth retardation, Microphthalmia, Short stature	OMIM:616975
Crimean-Congo Hemorrhagic Fever	Jaundice, Hepatomegaly, Lymphadenopathy, Pancytopenia, Acute pancreatitis, Leukocytosis, Neutroph...	ORPHA:99827
Microgastria-Limb Reduction Defect Syndrome	Growth delay, Microphthalmia, Anophthalmia	ORPHA:2538
Congenital Fiber-Type Disproportion Myopathy	Failure to thrive, Polyhydramnios, Weight loss	ORPHA:2020
Hereditary Pheochromocytoma-Paraganglioma	Weight loss	ORPHA:29072
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Short stature, Optic nerve hypoplasia, Microphthalmia, Spina bifida	ORPHA:508498
Familial Gestational Hyperthyroidism	Weight loss	ORPHA:99819
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2	Perianal abscess, Skin rash, Weight loss	OMIM:301074
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome	Microphthalmia	ORPHA:1236
Holoprosencephaly-Postaxial Polydactyly Syndrome	Microphthalmia, Encephalocele, Umbilical hernia	ORPHA:2166
Schwartz-Jampel Syndrome	Cachexia, Polyhydramnios, Decreased body weight, Death in infancy	ORPHA:800
Fanconi Anemia	Microphthalmia, Spina bifida, Growth delay, Short stature, Umbilical hernia, Intrauterine growth ...	ORPHA:84
Basal Cell Nevus Syndrome 1	Microphthalmia, Spina bifida	OMIM:109400
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis	Weight loss	OMIM:607459
Simple Cryoglobulinemia	Weight loss	ORPHA:91139
Atelis Syndrome 2	Microphthalmia	OMIM:620185
Myhre Syndrome	Intrauterine growth retardation, Microphthalmia, Birth length less than 3rd percentile, Short sta...	OMIM:139210
Meckel Syndrome	Microphthalmia, Anencephaly, Encephalocele, Anophthalmia, Aplasia/Hypoplasia of the iris	ORPHA:564
Hallermann-Streiff Syndrome	Microphthalmia, Proportionate short stature	ORPHA:2108
Lymphedema-Distichiasis Syndrome	Microphthalmia	OMIM:153400
Systemic Lupus Erythematosus	Thrombocytopenia, Leukopenia, Lymphadenopathy, Hemolytic anemia	ORPHA:536
Roberts Syndrome	Postnatal growth retardation, Microphthalmia, Severe intrauterine growth retardation	ORPHA:3103
Neuroendocrine Neoplasm Of Appendix	Hepatomegaly, Chronic noninfectious lymphadenopathy	ORPHA:100079
Igg4-Related Ophthalmic Disease	Pancreatitis, Cholangitis, Lymphadenopathy, Eosinophilia, Retroperitoneal fibrosis	ORPHA:449563
Chikungunya	Cervical lymphadenopathy, Lymphadenopathy	ORPHA:324625
Rothmund-Thomson Syndrome, Type 2	Short stature, Microphthalmia	OMIM:268400
Fanconi Anemia, Complementation Group D2	Short stature, Microphthalmia	OMIM:227646
Bartsocas-Papas Syndrome 1	Intrauterine growth retardation, Microphthalmia	OMIM:263650
Trichothiodystrophy	Intrauterine growth retardation, Bilateral microphthalmos, Umbilical hernia	ORPHA:33364
Linear Skin Defects With Multiple Congenital Anomalies 1	Short stature, Microphthalmia	OMIM:309801
Osteoporosis-Pseudoglioma Syndrome	Short stature, Phthisis bulbi, Microphthalmia	OMIM:259770
Pulmonary Alveolar Microlithiasis	Peripheral edema, Weight loss	ORPHA:60025
Mycophenolate Mofetil Embryopathy	Microphthalmia	ORPHA:268249
Microcephaly-Lymphedema-Chorioretinopathy Syndrome	Microphthalmia, Severe short stature, Anophthalmia	ORPHA:2526
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1	Follicular hyperkeratosis	OMIM:225400
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome	Thickened skin, Orthokeratotic hyperkeratosis, Epidermal thickening	ORPHA:73223
Treacher-Collins Syndrome	Microphthalmia, Branchial fistula, Encephalocele	ORPHA:861
Behçet Disease	Lymphadenopathy, Pancreatitis, Splenomegaly	ORPHA:117
Hereditary Late-Onset Parkinson Disease	Weight loss	ORPHA:411602
Aicardi Syndrome	Postnatal growth retardation, Microphthalmia, Spina bifida	OMIM:304050
Granulomatosis With Polyangiitis	Skin rash, Weight loss, Periorbital edema	ORPHA:900
Igg4-Related Dacryoadenitis And Sialadenitis	Thrombocytopenia, Retroperitoneal fibrosis, Lymphadenopathy	ORPHA:79078
Cushing Syndrome Due To Ectopic Acth Secretion	Recurrent cutaneous fungal infections, Increased body weight, Weight loss, Acne, Peripheral edema...	ORPHA:99889
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency	Intrauterine growth retardation, Optic nerve hypoplasia, Bilateral microphthalmos, Severe short s...	ORPHA:468631
Restrictive Dermopathy	Polyhydramnios, Epidermal hyperkeratosis, Generalized hyperkeratosis	ORPHA:1662
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome	Intrauterine growth retardation, Microphthalmia, Branchial cyst, Short stature	OMIM:620186
Aicardi Syndrome	Delayed puberty, Microphthalmia	ORPHA:50
Microphthalmia With Limb Anomalies	Short stature, Microphthalmia, True anophthalmia	ORPHA:1106
Robin Sequence With Distinctive Facial Appearance And Brachydactyly	Intrauterine growth retardation, Microphthalmia	OMIM:608670
Mend Syndrome	Short stature, Microphthalmia	ORPHA:401973
Granulomatosis With Polyangiitis	Weight loss	OMIM:608710
Leprosy	Hyperkeratosis	ORPHA:548
22Q11.2 Deletion Syndrome	Microphthalmia, Meningocele, Spina bifida, Short stature, Umbilical hernia, Intrauterine growth r...	ORPHA:567
Blau Syndrome	Abnormality of the liver, Lymphadenopathy, Anemia, Splenomegaly	ORPHA:90340
Charge Syndrome	Postnatal growth retardation, Delayed puberty, Microphthalmia, Anophthalmia, Short stature, Umbil...	ORPHA:138
Addison Disease	Failure to thrive, Decreased circulating cortisol level, Weight loss	ORPHA:85138
Meckel Syndrome, Type 1	Occipital encephalocele, Large placenta, Microphthalmia, Anencephaly, Intrauterine growth retarda...	OMIM:249000
Histiocytoid Cardiomyopathy	Microphthalmia, Congenital aphakia	ORPHA:137675
Cockayne Syndrome Type 3	Mild postnatal growth retardation, Microphthalmia	ORPHA:90324
Oculodentodigital Dysplasia	Microphthalmia	OMIM:164200
Holoprosencephaly 7	Bilateral microphthalmos, Microphthalmia, Occipital meningocele	OMIM:610828
Microphthalmia With Linear Skin Defects Syndrome	Growth delay, Microphthalmia, Severe short stature, Anophthalmia	ORPHA:2556
Thyrotoxic Periodic Paralysis	Obesity, Weight loss	ORPHA:79102
Cockayne Syndrome	Postnatal growth retardation, Delayed puberty, Microphthalmia, Growth delay, Severe short stature	ORPHA:191
Proteasome-Associated Autoinflammatory Syndrome 1	Hepatomegaly, Lymphadenopathy, Thrombocytopenia, Splenomegaly, Microcytic anemia	OMIM:256040
Leptospirosis	Jaundice, Hepatomegaly, Lymphadenopathy, Thrombocytopenia, Hepatitis	ORPHA:509
Renal Nutcracker Syndrome	Weight loss	ORPHA:71273
Kyphoscoliotic Ehlers-Danlos Syndrome	Follicular hyperkeratosis	ORPHA:536545
Steinfeld Syndrome	Microphthalmia	OMIM:184705
Lynch Syndrome	Death in early adulthood, Weight loss, Death in infancy	ORPHA:144
Nocardiosis	Cutaneous abscess, Pleural effusion, Weight loss	ORPHA:31204
Chromosome 13Q14 Deletion Syndrome	Growth delay, Microphthalmia, Umbilical hernia	OMIM:613884
Fraser Syndrome 2	Microphthalmia	OMIM:617666
Tsh-Secreting Pituitary Adenoma	Pericardial effusion, Weight loss	ORPHA:91347
Frontofacionasal Dysplasia	Cranium bifidum occultum, Microphthalmia	OMIM:229400
Holoprosencephaly 9	Microphthalmia, Anophthalmia, Optic nerve hypoplasia, Short stature, Occipital meningocele	OMIM:610829
Tropical Pancreatitis	Weight loss	ORPHA:103918
Riddle Syndrome	Weight loss	ORPHA:420741
Microphthalmia, Syndromic 2	Microphthalmia, Anophthalmia, Short stature, Umbilical hernia, Phthisis bulbi	OMIM:300166
Neu-Laxova Syndrome 1	Short umbilical cord, Microphthalmia, Small placenta, Hydranencephaly, Spina bifida, Intrauterine...	OMIM:256520
Zollinger-Ellison Syndrome	Weight loss, Increased circulating cortisol level	ORPHA:913
Skin Creases, Congenital Symmetric Circumferential, 2	Short stature, Microphthalmia	OMIM:616734
Phace Syndrome	Optic nerve hypoplasia, Microphthalmia, Lens coloboma	ORPHA:42775
Fontaine Progeroid Syndrome	Intrauterine growth retardation, Microphthalmia, Short stature, Umbilical hernia	OMIM:612289
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Microphthalmia	OMIM:617925
Traboulsi Syndrome	Microphthalmia	OMIM:601552
Proteus Syndrome	Thickened skin, Cachexia, Generalized hyperkeratosis, Lymphedema	ORPHA:744
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Microphthalmia	OMIM:609945
Degcags Syndrome	Intrauterine growth retardation, Microphthalmia	OMIM:619488
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
Seckel Syndrome	Cachexia	ORPHA:808
Monosomy 9P	Microphthalmia	ORPHA:261112
Oculopharyngodistal Myopathy 1	Weight loss	OMIM:164310
Focal Dermal Hypoplasia	Microphthalmia, Aniridia, Spina bifida occulta, Anophthalmia, Myelomeningocele, Short stature, Um...	OMIM:305600
Yunis-Varon Syndrome	Postnatal growth retardation, Microphthalmia, Bilateral microphthalmos, Short stature	ORPHA:3472
African Trypanosomiasis	Miscarriage, Pruritus, Weight loss, Abnormality of circulating cortisol level	ORPHA:3385
Fryns Syndrome	Microphthalmia	OMIM:229850
Bosma Arhinia Microphthalmia Syndrome	Microphthalmia	OMIM:603457
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome	Microphthalmia	ORPHA:3186
Renpenning Syndrome 1	Short stature, Microphthalmia	OMIM:309500
Proboscis Lateralis	Optic nerve hypoplasia, Microphthalmia, Anophthalmia	ORPHA:141099
Neuroocular Syndrome	Microphthalmia, Short stature, Hypoplasia of the fovea, Lens coloboma, Umbilical hernia	OMIM:619539
Tubulointerstitial Nephritis And Uveitis Syndrome	Cystoid macular edema, Skin rash, Macular edema, Weight loss	ORPHA:91500
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Buphthalmos, Microphthalmia, Hypoplasia of the retina	OMIM:253280
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome	Cachexia	ORPHA:1969
Hydrolethalus Syndrome 1	Intrauterine growth retardation, Microphthalmia, Anencephaly	OMIM:236680
Adams-Oliver Syndrome 1	Microphthalmia, Encephalocele	OMIM:100300
Holoprosencephaly 1	Short stature, Microphthalmia	OMIM:236100
Witteveen-Kolk Syndrome	Microphthalmia, Short stature, Growth delay, Intrauterine growth retardation, Branchial fistula	OMIM:613406
Parathyroid Carcinoma	Weight loss	ORPHA:143
Lowe Oculocerebrorenal Syndrome	Short stature, Microphthalmia, Postnatal growth retardation	OMIM:309000
Fraser Syndrome	Microphthalmia, Encephalocele, Anophthalmia, Myelomeningocele, Umbilical hernia	ORPHA:2052
8Q24.3 Microdeletion Syndrome	Bilateral microphthalmos, Spina bifida occulta, Optic nerve hypoplasia, Short stature, Infancy on...	ORPHA:508488
Charge Syndrome	Postnatal growth retardation, Delayed puberty, Microphthalmia, Anophthalmia, Unilateral microphth...	OMIM:214800
Juvenile Polyposis Of Infancy	Cachexia	ORPHA:79076
Branchiooculofacial Syndrome	Postnatal growth retardation, Microphthalmia, Anophthalmia, Branchial anomaly, Intrauterine growt...	OMIM:113620
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb	Microphthalmia	OMIM:612474
Nijmegen Breakage Syndrome	Cachexia	ORPHA:647
Tetraamelia Syndrome 1	Microphthalmia	OMIM:273395
Pallister-Hall Syndrome	Intrauterine growth retardation, Microphthalmia, Short stature, Umbilical hernia	ORPHA:672
Fraser Syndrome 1	Bilateral microphthalmos, Encephalocele, Myelomeningocele, Anophthalmia	OMIM:219000
Norrie Disease	Delayed puberty, Microphthalmia, Hypoplasia of the iris, Aplasia/Hypoplasia of the lens	ORPHA:649
Hutchinson-Gilford Progeria Syndrome	Severe failure to thrive, Weight loss	ORPHA:740
Tropical Endomyocardial Fibrosis	Peripheral edema, Cachexia, Ascites, Pedal edema	ORPHA:75565
Camurati-Engelmann Disease	Cachexia, Slender build	ORPHA:1328
Marfan Syndrome	Cachexia, Slender build	ORPHA:558
Choreoacanthocytosis	Weight loss	ORPHA:2388
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Cachexia	ORPHA:2072
Roberts-Sc Phocomelia Syndrome	Postnatal growth retardation, Frontal encephalocele, Microphthalmia, Severe intrauterine growth r...	OMIM:268300
Mowat-Wilson Syndrome	Short stature, Microphthalmia	OMIM:235730
Stickler Syndrome	Cachexia, Slender build	ORPHA:828
Microphthalmia, Syndromic 6	Microphthalmia, Anophthalmia	OMIM:607932
Townes-Brocks Syndrome	Delayed puberty, Microphthalmia, Short stature	ORPHA:857
Treacher Collins Syndrome 1	Bilateral microphthalmos	OMIM:154500
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies	Microphthalmia, Hypoplasia of the iris	OMIM:175780
Holoprosencephaly 2	Microphthalmia	OMIM:157170
Mowat-Wilson Syndrome	Short stature, Microphthalmia, Growth delay	ORPHA:2152
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Short stature, Microphthalmia	ORPHA:261537
Goodpasture Syndrome	Weight loss	OMIM:233450
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Short stature, Microphthalmia	ORPHA:261552
Craniofacial Microsomia 1	Branchial anomaly, Occipital encephalocele, Microphthalmia, Anophthalmia	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.

Order Mouse and ES Cells

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

The IMPC Newsletter

Get highlights of the most important data releases, news and events, delivered straight to your email inbox

Subscribe to newsletter

My Genes

About the IMPC

Data

Human Diseases

Publications

News

Blog

Help

IMPC Cloud

Contact us

Gene: Aloxe3 MGI:1345140

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

X-ray

X-ray

MicroCT E14.5-E15.5

Gross Morphology Embryo E14.5-E15.5

Human diseases caused by Aloxe3 mutations

Histopathology

IMPC related publications

Order Mouse and ES Cells

The IMPC Newsletter

Access Data Release 21.0 Data