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Gene: Sharpin MGI:1913331

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Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
SHANK-associated RH domain interacting protein
Synonyms:
SIPL1,  0610041B22Rik,  cpdm

Order Alleles

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

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.

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.

Phenotype associated images not available

Human diseases caused by Sharpin mutations

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

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

No human diseases associated to this gene by orthology or annotation.

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Acne Inversa, Familial, 3
Chronic furunculosis, Recurrent cutaneous abscess formation, Perifolliculitis, Acne inversa OMIM:613737
Alopecia Areata 2
Alopecia of scalp, Patchy alopecia, Alopecia totalis, Alopecia universalis OMIM:610753
Alopecia Totalis
Alopecia, Alopecia of scalp ORPHA:700
Alopecia-Intellectual Disability Syndrome 1
Alopecia, Alopecia universalis OMIM:203650
Alopecia Universalis Congenita
Absent eyebrow, Absent eyelashes, Absent pubic hair, Absent axillary hair, Alopecia universalis OMIM:203655
Peeling Skin Syndrome 3
Abnormal hair morphology, Erythema, White scaling skin OMIM:616265
Alopecia, Congenital
Sparse hair, Alopecia OMIM:300042
Hypotrichosis Simplex
Sparse scalp hair, Alopecia, Sparse eyelashes, Sparse eyebrow, Sparse hair, Sparse body hair ORPHA:55654
Alopecia Universalis
Absent eyelashes, Absent eyebrow, Patchy alopecia, Alopecia universalis ORPHA:701
Hypotrichosis 4
Sparse scalp hair, Alopecia, Sparse eyelashes, Sparse eyebrow, Uncombable hair, Sparse body hair OMIM:146550
Acne Inversa, Familial, 1
Acne inversa OMIM:142690
Chilblain Lupus 2
Chilblains OMIM:614415
Alopecia Areata 1
Trachyonychia, Alopecia totalis, Nail pits, Patchy alopecia, Alopecia universalis OMIM:104000
Hypotrichosis 11
Sparse or absent eyelashes, Alopecia universalis, Absent axillary hair, Sparse hair, Aplasia/Hypo... OMIM:615059
Alopecia-Intellectual Disability Syndrome 3
Alopecia universalis OMIM:613930
Alopecia-Intellectual Disability Syndrome 2
Alopecia universalis OMIM:610422
Ichthyosis, Congenital, Autosomal Recessive 12
White scaling skin OMIM:617320
Alopecia, Familial Focal
Patchy alopecia OMIM:104110
Alopecia, Androgenetic, 1
Alopecia OMIM:109200
Peeling Skin Syndrome 2
Erythema, Scaling skin OMIM:609796
Peeling Skin Syndrome 5
Epidermal acanthosis, Scaling skin OMIM:617115
Perifolliculitis Capitis Abscedens Et Suffodiens, Familial
Alopecia, Alopecia of scalp OMIM:260910
Cephalin Lipidosis
Abnormality of the spleen OMIM:212800
Ectodermal Dysplasia 6, Hair/Nail Type
Sparse hair, Alopecia, Thin toenail, Dystrophic toenail OMIM:614928
Linear Atrophoderma Of Moulin
Pruritus, Inflammatory abnormality of the skin ORPHA:140933
Kerion Celsi
Recurrent cutaneous abscess formation, Inflammatory abnormality of the skin, Recurrent skin infec... ORPHA:499
Trichodysplasia-Xeroderma Syndrome
Sparse scalp hair, Alopecia, Brittle hair, Sparse eyebrow, Sparse body hair, Coarse hair, Trichod... ORPHA:3361
Graham Little-Piccardi-Lassueur Syndrome
Sparse pubic hair, Sparse scalp hair, Alopecia, Sparse axillary hair ORPHA:505
Keratosis Palmoplantaris Striata Ii
Epidermal acanthosis OMIM:612908
Classic Mycosis Fungoides
Hepatomegaly, Alopecia, Skin rash, Eczema, Edema, Abnormal eyelid morphology, Pruritus, Splenomeg... ORPHA:2584
Benign Cephalic Histiocytosis
Inflammatory abnormality of the skin, Skin rash ORPHA:157997
Netherton Syndrome
Hypernatremic dehydration, Villous atrophy, Brittle hair, Parakeratosis, Decreased circulating Ig... OMIM:256500
Alopecia-Intellectual Disability-Hypergonadotropic Hypogonadism Syndrome
Alopecia totalis ORPHA:1014
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Osteopenia, Conical tooth, Feeding difficulties in infancy, Increased T cell count, Pedal edema, ... ORPHA:98813
Hypotrichosis Simplex Of The Scalp
Abnormal eyebrow morphology, Sparse scalp hair, Parakeratosis, Epidermal acanthosis, Allergic rhi... ORPHA:90368
Immunodeficiency, Common Variable, 8, With Autoimmunity
Atrophic gastritis, Villous atrophy, Generalized lymphadenopathy, Uveitis, Inflammation of the la... OMIM:614700
Immunodeficiency 51
Recurrent skin infections, Eczema, Pneumonia, Pustule, Chronic mucocutaneous candidiasis, Recurre... OMIM:613953
Tuftsin Deficiency
Abnormality of the spleen OMIM:191150
Severe Combined Immunodeficiency Due To Foxn1 Deficiency
Ridged nail, Nail pits, Congenital alopecia totalis ORPHA:169095
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Abnormal T cell count, Lymphadenitis, Pallor, Decreased proportion of CD3-positive T cells, Decre... ORPHA:331206
Pgm3-Cdg
Abnormal CD4:CD8 ratio, Increased circulating IgG level, Leukopenia, T lymphocytopenia, High pala... ORPHA:443811
Caspase 8 Deficiency
Recurrent sinopulmonary infections, Complete or near-complete absence of specific antibody respon... OMIM:607271
Selective Igm Deficiency
Fasciitis, Lymphadenitis, Paraproteinemia, Recurrent cutaneous fungal infections, Decreased propo... ORPHA:331235
Sézary Syndrome
Hepatomegaly, Alopecia, Abnormal pleura morphology, Abnormal immunoglobulin level, Pruritus, Sple... ORPHA:3162
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Oral ulcer, Increased circulating IgG level, T lymphocytopenia, Lymphocytosis, Neutropenia, Decre... ORPHA:169154
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Hepatomegaly, Atrophic gastritis, Psoriasiform dermatitis, Lymphopenia, Eczema, Autoimmune hemoly... OMIM:616100
Combined Immunodeficiency Due To Zap70 Deficiency
Lymphadenitis, Colitis, Lymphocytosis, Autoimmune thrombocytopenia, Chronic diarrhea, Hepatosplen... ORPHA:911
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Atrophic gastritis, Pure red cell aplasia, Inflammation of the large intestine, Decreased circula... ORPHA:436159
Dissecting Cellulitis Of The Scalp
Pruritus, Recurrent skin infections ORPHA:345
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Villous atrophy, T lymphocytopenia, Scaling skin, Alopecia universalis, Hemolytic anemia, Psorias... OMIM:606367
Roifman Syndrome
Thin upper lip vermilion, Hip contracture, Short stature, Eczema, Eosinophilia, Hyperconvex nail,... ORPHA:353298
Odonto-Onycho Dysplasia-Alopecia Syndrome
Alopecia, Abnormal fingernail morphology, Hypoplastic toenails, Sparse eyebrow, Sparse hair, Spar... ORPHA:2722
Parc Syndrome
Absent eyelashes, Absent eyebrow, Alopecia OMIM:600331
Epidermolysis Bullosa Simplex 6, Generalized Intermediate, With Or Without Cardiomyopathy
Alopecia, Onychogryposis of toenails, Alopecia of scalp, Sparse body hair, Dystrophic toenail OMIM:617294
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Lymphadenitis, Oral ulcer, Hemolytic anemia, Short stature, Abscess, Perianal abscess, Hepatosple... OMIM:618935
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Respiratory distress, Myositis, Secretory diarrhea, Tubulointerstitial nephritis, Iron deficiency... ORPHA:37042
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Generalized lymphadenopathy, Lymphadenitis, Leukopenia, T lymphocytopenia, Neutropenia, Decreased... OMIM:618986
Mixed Connective Tissue Disease
Myositis, Xerostomia, Leukopenia, Gastroesophageal reflux, Hemolytic anemia, Alopecia, Hepatomega... ORPHA:809
Hypotrichosis 1
Sparse eyelashes, Sparse axillary hair, Sparse pubic hair, Sparse eyebrow, Abnormality of the nai... OMIM:605389
Hypotrichosis 9
Sparse scalp hair, Sparse body hair OMIM:614237
Activated Pi3K-Delta Syndrome
Hepatomegaly, Pneumonia, Splenomegaly, Recurrent tonsillitis, Bronchiectasis, Decreased circulati... ORPHA:397596
Paget Disease, Extramammary
Eczematoid dermatitis OMIM:167300
Ectodermal Dysplasia/Skin Fragility Syndrome
Absent eyebrow, Absent eyelashes, Nail dystrophy, Scaling skin, Sparse hair, Alopecia of scalp, D... OMIM:604536
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis
Parakeratosis, Oligodontia, Hepatic fibrosis, Sparse hair, Hepatomegaly, Alopecia, Portal hyperte... OMIM:607626
Immunodeficiency 97 With Autoinflammation
Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Colitis, Decreased circulating Ig... OMIM:619802
Marie Unna Hereditary Hypotrichosis
Sparse scalp hair, Alopecia, Sparse or absent eyelashes, Coarse hair, Aplasia/Hypoplasia of the e... ORPHA:444
Immunodeficiency 58
Colitis, Scaling skin, Chronic otitis media, Recurrent cutaneous abscess formation, Psoriasiform ... OMIM:618131
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Recurrent respiratory infections, Recurrent sinopulmonary infections, Splenomegaly, Bronchiectasi... OMIM:615513
Ectodermal Dysplasia 4, Hair/Nail Type
Absent eyebrow, Alopecia, Brittle hair, Absent eyelashes, Onycholysis, Nail dystrophy, Sparse bod... OMIM:602032
Uncombable Hair Syndrome
Abnormal hair morphology, White hair, Coarse hair, Patchy alopecia, Trichodysplasia, Woolly hair ORPHA:1410
Immunodeficiency, Common Variable, 12, With Autoimmunity
Recurrent sinopulmonary infections, Atrophic gastritis, Alopecia, Recurrent skin infections, Auto... OMIM:616576
Severe Combined Immunodeficiency, X-Linked
Impaired lymphocyte transformation with phytohemagglutinin, Hepatomegaly, Failure to thrive, Skin... OMIM:300400
Immunodeficiency 105
Impaired lymphocyte transformation with phytohemagglutinin, Lymphopenia, Pancytopenia, Skin rash,... OMIM:619924
Autoimmune Lymphoproliferative Syndrome
Hydrops fetalis, Uveitis, Increased circulating IgG level, Colitis, Lymphocytosis, Increased B ce... ORPHA:3261
Psoriasis 14, Pustular
Parakeratosis, Psoriasiform dermatitis, Epidermal acanthosis, Cholangitis, Neutrophilia, Pustule,... OMIM:614204
Amyloidosis, Primary Localized Cutaneous, 1
Dry skin, Scaling skin OMIM:105250
Omenn Syndrome
Hepatomegaly, Alopecia, Failure to thrive, Pneumonia, Eosinophilia, Edema, Pruritus, Splenomegaly... ORPHA:39041
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections
High palate, Alopecia, Bronchiectasis, Chronic oral candidiasis, Eczema, Pruritus, Recurrent pneu... OMIM:618282
Immunodeficiency, Common Variable, 1
Hepatomegaly, Pneumonia, Impaired T cell function, Splenomegaly, Diarrhea, Recurrent pneumonia, B... OMIM:607594
Schnitzler Syndrome
Hepatomegaly, Increased bone mineral density, Skin rash, Pruritus, Splenomegaly, Leukocytosis, Ly... ORPHA:37748
Immunodeficiency 57 With Autoinflammation
Recurrent respiratory infections, Failure to thrive, Skin rash, Gastritis, Perianal abscess, Diar... OMIM:618108
Neonatal Lupus Erythematosus
Elevated hepatic transaminase, Hemolytic anemia, Hepatomegaly, Pancytopenia, Skin rash, Aplastic ... ORPHA:398124
Krt1-Related Diffuse Nonepidermolytic Keratoderma
Concave nail, Erythema, Palmoplantar scaling skin, Scaling skin, Dry skin ORPHA:530838
Autoinflammation With Arthritis And Dyskeratosis
Hepatomegaly, Autoimmune hemolytic anemia, Failure to thrive, Epidermal acanthosis, Increased cir... OMIM:617388
Immunodeficiency 64 With Lymphoproliferation
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos... OMIM:618534
Ichthyosis-Alopecia-Eclabion-Ectropion-Intellectual Disability Syndrome
Congenital alopecia totalis, Epidermal acanthosis, Sparse eyebrow, Dry skin, Absent pubic hair, C... ORPHA:2269
Epidermolytic Hyperkeratosis 1
Epidermal acanthosis, Scaling skin OMIM:113800
Diffuse Cutaneous Mastocytosis
Abnormality of the spleen, Darier's sign, Abnormality of the liver, Vomiting, Scaling skin, Lymph... ORPHA:79456
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Elevated hepatic transaminase, Hepatomegaly, Eczema, Abdominal pain, Lymphadenitis, Leukocytosis,... OMIM:615895
L-Ferritin Deficiency
Alopecia OMIM:615604
Immunodeficiency 102
Increased circulating interleukin 6 concentration, Leukopenia, Decreased circulating IgG level, H... OMIM:301082
Epidermolysis Bullosa Simplex 4, Localized Or Generalized Intermediate, Autosomal Recessive
Epidermal acanthosis OMIM:615028
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections
Recurrent sinopulmonary infections, Eczema, Eosinophilic infiltration of the esophagus, Eosinophi... OMIM:243700
Roifman Syndrome
Hepatomegaly, Thin upper lip vermilion, Hip contracture, Short stature, Eczema, Eosinophilia, Pos... OMIM:616651
Quinquaud Folliculitis Decalvans
Abnormal hair morphology, Scarring alopecia of scalp, Erythema, Patchy alopecia ORPHA:346
Autoimmune Lymphoproliferative Syndrome, Type Iia
Increased circulating IgG level, Iron deficiency anemia, Increased B cell count, Decreased lympho... OMIM:603909
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Fluctuating splenomegaly, Bronchiectasi... OMIM:619220
Immunodeficiency 82 With Systemic Inflammation
Villous atrophy, Decreased proportion of naive T cells, Bronchitis, Anorexia, Oral ulcer, T lymph... OMIM:619381
Immunodeficiency, Common Variable, 2
Hepatomegaly, Impaired T cell function, Follicular hyperplasia, Splenomegaly, Diarrhea, Recurrent... OMIM:240500
Immunodeficiency 103, Susceptibility To Fungal Infections
Abnormal B cell count, Abnormal proportion of CD8-positive T cells, Increased circulating IgE lev... OMIM:212050
Agammaglobulinemia 8B, Autosomal Recessive
Pancytopenia, Everted upper lip vermilion, Failure to thrive, Splenomegaly, Decreased proportion ... OMIM:619824
Monilethrix
Alopecia, Brittle hair, Abnormality of hair texture, Nail dystrophy, Nail dysplasia, Sparse hair OMIM:158000
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Chronic oral candidiasis, Lymphopenia, Pneumonia, Eosinophilia, Anorexia, Diarrhea, Recurrent pne... ORPHA:169160
Bathing Suit Ichthyosis
Eclabion, Alopecia, Parakeratosis, Epidermal acanthosis, Multiple joint contractures, Thickened s... ORPHA:100976
Sting-Associated Vasculopathy, Infantile-Onset
Myositis, Tachypnea, Increased circulating IgG level, Leukopenia, Periungual erythema, Sparse hai... OMIM:615934
Erythrokeratodermia Variabilis
Alopecia, Skin rash, Short stature, Abnormal testis morphology, Abnormal hair morphology, Erythem... ORPHA:317
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections
Osteopenia, Recurrent sinopulmonary infections, Skin rash, Eosinophilia, Recurrent fractures, Per... OMIM:147060
Dowling-Degos Disease 4
Epidermal acanthosis OMIM:615696
Immunodeficiency 27A
Increased inflammatory response, Abnormal bronchus physiology, Pneumonia, Anorexia, Splenomegaly,... OMIM:209950
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Alopecia, Villous atrophy, Glomerulonephritis, Eczema, Autoimmune thrombocytopenia, Eosinophilia,... OMIM:304790
Hypotrichosis 10
Sparse eyebrow, Sparse eyelashes, Sparse body hair OMIM:614238
Bazex Syndrome
Parakeratosis, Edema, Lung adenocarcinoma, Pruritus, Yellow nails, Hyperkeratosis, Palmoplantar k... ORPHA:166113
Acrokeratosis Verruciformis
Ridged nail, Epidermal acanthosis OMIM:101900
Trichodysplasia-Amelogenesis Imperfecta Syndrome
Alopecia of scalp, Trichodysplasia ORPHA:79129
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Decreased proportion of naive T cells, Recurrent cutaneous fungal infections, Increased circulati... ORPHA:276
Prolidase Deficiency
Hepatomegaly, Recurrent respiratory infections, Abnormal fingernail morphology, Pruritus, Splenom... ORPHA:742
Immunodeficiency With Hyper-Igm, Type 1
Oral ulcer, Gingivitis, Decreased circulating IgE, Neutropenia, Decreased circulating IgG level, ... OMIM:308230
Hyper-Igd Syndrome
Neutrophilia, Skin rash, Increased circulating IgA level, Abdominal pain, Lymphadenitis, Diarrhea... OMIM:260920
Immunodeficiency 104
Hepatomegaly, Pneumonia, Eczema, Splenomegaly, Diarrhea, Oral ulcer, Chronic mucocutaneous candid... OMIM:608971
Ichthyosis Hystrix, Curth-Macklin Type
Scaling skin OMIM:146590
Intellectual Developmental Disorder, Fra12A Type
Erythroderma OMIM:136630
Autosomal Recessive Hypohidrotic Ectodermal Dysplasia
Alopecia, Abnormal fingernail morphology, Abnormal hair morphology, Fine hair, Abnormal toenail m... ORPHA:248
Immunodeficiency 107, Susceptibility To Invasive Staphylococcus Aureus Infection
Chronic furunculosis, Cutaneous abscess OMIM:619986
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Recurrent respiratory infections, Psoriasiform dermatitis, Recurrent skin infections, Eosinophili... OMIM:615508
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased proportion autoreactive unresponsive CD21-/low B cells, Generalized lymphadenopathy, In... OMIM:615559
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Hepatomegaly, Lymphopenia, Generalized lymphadenopathy, Aplasia of the thymus, Pneumonia, Eosinop... OMIM:602450
Cutaneous Mastocytoma
Maculopapular exanthema, Telangiectasia of the skin, Abdominal pain, Pruritus, Thickened skin, Di... ORPHA:79455
Ichthyosis, Congenital, Autosomal Recessive 14
Erythema, Scaling skin OMIM:617571
Bloom Syndrome
Bronchitis, Poor appetite, Paronychia, Uveitis, Gastroesophageal reflux, Otitis media, Stomach ca... ORPHA:125
Lymphatic Filariasis
Predominantly lower limb lymphedema, Glomerulonephritis, Ankle swelling, Lymphedema, Orchitis, Ly... ORPHA:2035
Hypertrichosis Lanuginosa Congenita
Congenital, generalized hypertrichosis, Double eyebrow OMIM:145700
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Respiratory distress, Parakeratosis, Severe B lymphocytopenia, Biliary hyperplasia, Coarse hair, ... ORPHA:83617
Acral Self-Healing Collodion Baby
Palmoplantar scaling skin, Erythema, Lack of skin elasticity ORPHA:281127
Ichthyosis, Congenital, Autosomal Recessive 1
Alopecia, Parakeratosis, Epidermal acanthosis, Flexion contracture, Palmoplantar hyperkeratosis, ... OMIM:242300
Acute Generalized Exanthematous Pustulosis
Elevated hepatic transaminase, Predominantly dermal neutrophilic infiltrate, Neutrophilia, Eosino... ORPHA:293173
C1Q Deficiency 3
Discoid lupus rash OMIM:620322
X-Linked Agammaglobulinemia
Sinusitis, Abnormal lung morphology, Glossoptosis, Conjunctivitis, Neutropenia, Chronic otitis me... ORPHA:47
Immunodeficiency 85 And Autoimmunity
Tube feeding, Lymphopenia, Villous atrophy, Recurrent respiratory infections, Failure to thrive i... OMIM:619510
Syndromic Diarrhea
Villous atrophy, Brittle hair, Bloody diarrhea, Abnormality of the liver, Colitis, Hypoplasia of ... ORPHA:84064
Acne Inversa, Familial, 2, With Or Without Dowling-Degos Disease
Chronic furunculosis, Recurrent cutaneous abscess formation, Perifolliculitis, Acne inversa OMIM:613736
Erythroderma, Lethal Congenital
Congenital exfoliative erythroderma OMIM:227090
Erythema Nodosum, Familial
Erythema nodosum OMIM:132990
Epidermolysis Bullosa Simplex 5D, Generalized Intermediate, Autosomal Recessive
Alopecia, Nail dystrophy OMIM:616487
Proteasome-Associated Autoinflammatory Syndrome 5
Splenomegaly, Hepatomegaly, Skin rash OMIM:619175
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections
Arthropathy, Recurrent respiratory infections, Dental crowding, Eczema, Eosinophilia, Craniosynos... OMIM:618523
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Small for gestational age, Eczema, Failure to thrive in infancy, Decreased proportion of CD8-posi... OMIM:617241
Familial Reactive Perforating Collagenosis
Perifolliculitis, Inflammatory abnormality of the skin, Maculopapular exanthema, Abnormal oral mu... ORPHA:79147
Peeling Skin Syndrome 4
Scaling skin, Epidermal acanthosis, Nail dystrophy OMIM:607936
Chronic Actinic Dermatitis
Late onset atopic dermatitis, Eczema, Allergic rhinitis, Pruritus, Erythroderma ORPHA:330064
Immunodeficiency 92
Hepatomegaly, Osteomyelitis, Pneumonia, Cholangitis, Leukocytosis, Chronic diarrhea, Decreased pr... OMIM:619652
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy
Ridged nail, Alopecia, Nail dystrophy, Nail pits OMIM:601705
Immunodeficiency 11B With Atopic Dermatitis
Pneumonia, Eosinophilia, Asthma, Increased circulating IgE level, Chronic diarrhea, Atopic dermat... OMIM:617638
Immunodeficiency 60 And Autoimmunity
Recurrent sinopulmonary infections, Pancytopenia, Splenomegaly, Chronic diarrhea, Bronchiectasis,... OMIM:618394
Autoimmune Lymphoproliferative Syndrome
Hepatomegaly, Autoimmune hemolytic anemia, Chronic noninfectious lymphadenopathy, Eosinophilia, I... OMIM:601859
Immunodeficiency With Hyper-Igm, Type 2
Recurrent infection of the gastrointestinal tract, Recurrent respiratory infections, Impaired Ig ... OMIM:605258
Mucopolysaccharidosis-Plus Syndrome
Respiratory distress, Synophrys, Flexion contracture, Low anterior hairline, Leukopenia, Coarse h... OMIM:617303
Centrifugal Lipodystrophy
Reduced subcutaneous adipose tissue, Alopecia, Inflammatory abnormality of the skin, Lack of faci... ORPHA:90156
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Chronic gastritis, Liver abscess, Cholangitis, Bronchitis, Cholecystitis, Decreased circulating I... ORPHA:183675
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Chronic diarrhea, Anemia, Leukopenia, I... OMIM:615285
Iga Pemphigus
Neutrophilic infiltration of the skin, Monoclonal elevation of circulating IgA, Eosinophilia, Aca... ORPHA:555905
Hypotrichosis And Recurrent Skin Vesicles
Sparse scalp hair, Sparse eyelashes, Epidermal acanthosis, Sparse axillary hair, Sparse eyebrow, ... OMIM:613102
Chromomycosis
Predominantly lower limb lymphedema, Edema, Lymphedema, Keratitis, Pruritus, Abnormal lung morpho... ORPHA:182
Reticular Dysgenesis
Recurrent respiratory infections, Skin rash, Abnormality of neutrophils, Malabsorption, Diarrhea,... ORPHA:33355
Familial Hemophagocytic Lymphohistiocytosis
Increased circulating interleukin 6 concentration, Increased circulating interferon-gamma concent... ORPHA:540
Hypotrichosis 5
Alopecia, Sparse eyelashes, Abnormal sweat gland morphology, Absent pubic hair, Thin eyebrow, Abs... OMIM:612841
Autosomal Dominant Hyper-Ige Syndrome
Osteopenia, Paronychia, Gingivitis, Cough, Skin vesicle, Chronic otitis media, Generalized abnorm... ORPHA:2314
Lymphoproliferative Syndrome, X-Linked, 1
Hepatomegaly, Pancytopenia, Recurrent respiratory infections, Aplastic anemia, Dysgammaglobulinem... OMIM:308240
Hidrotic Ectodermal Dysplasia
Absent eyebrow, Alopecia, Hypopigmentation of hair, Sparse eyelashes, Brittle scalp hair, Sparse ... ORPHA:189
Candidiasis, Familial, 1
Alopecia OMIM:114580
Thumb Deformity And Alopecia
Alopecia OMIM:188150
Psoriasis 2
Epidermal acanthosis, Scaling skin OMIM:602723
Graft Versus Host Disease
Fasciitis, Myositis, Limited elbow movement, Oral ulcer, Gastrointestinal inflammation, Vomiting,... ORPHA:39812
Ulerythema Ophryogenesis
Acne, Facial erythema, Hyperkeratotic papule, Follicular hyperkeratosis, Dry skin, Contact dermat... ORPHA:3406
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections
High palate, Neutropenia, Decreased circulating IgG level, Persistence of primary teeth, Supernum... OMIM:619752
Verrucous Hemangioma
Inflammatory abnormality of the skin ORPHA:464318
Alpha-Heavy Chain Disease
Hepatomegaly, Abnormal small intestine morphology, Alopecia, Dysgammaglobulinemia, Malabsorption,... ORPHA:100025
Immunodeficiency, Common Variable, 7
Recurrent respiratory infections, Splenomegaly, Chronic (near) absent circulating IgG4, Chronic d... OMIM:614699
Proton-Pump Inhibitor-Responsive Esophageal Eosinophilia
Feeding difficulties in infancy, Vomiting, Gastroesophageal reflux, Nausea, Eosinophilic infiltra... ORPHA:411696
Chilblain Lupus
Inflammatory abnormality of the skin, Skin rash, Cutis marmorata, Discoid lupus rash, Asthma, Ski... ORPHA:90280
Mannose-Binding Lectin Deficiency
Recurrent skin infections OMIM:614372
Aicardi-Goutieres Syndrome 7
Atrophic gastritis, Generalized lymphadenopathy, Edema, Bloody diarrhea, Hepatic steatosis, Hemol... OMIM:615846
Pili Torti
Abnormal eyebrow morphology, Alopecia, Brittle hair, Abnormality of hair texture, Abnormality of ... ORPHA:2889
Rat-Bite Fever
Abdominal aseptic abscess, Pericarditis, Maculopapular exanthema, Skin rash, Erythema nodosum, Ly... ORPHA:31205
Vulvovaginal Gingival Syndrome
Ridged nail, Parakeratosis, Epidermal acanthosis, Pruritus, Erythema, Oral ulcer, Gingivitis, Abn... ORPHA:83453
Boutonneuse Fever
Elevated hepatic transaminase, Skin rash, Maculopapular exanthema, Abdominal pain, Thrombocytopen... ORPHA:83313
Agammaglobulinemia 4, Autosomal Recessive
Recurrent pneumonia, Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total ... OMIM:613502
Immunodeficiency 70
Decreased circulating total IgG, Celiac disease, Decreased circulating antibody level, Decreased ... OMIM:618969
Bullous Diffuse Cutaneous Mastocytosis
Pruritus, Erythroderma ORPHA:280785
Pruritic Urticarial Papules And Plaques Of Pregnancy
Parakeratosis, Pruritus, Pruritis on abdomen, Pruritus on foot, Increased body weight, Facial ery... ORPHA:64745
Immunodeficiency 14B, Autosomal Recessive
Neutrophilia, Reduced natural killer cell activity, Leukocytosis, Recurrent pneumonia, Chronic di... OMIM:619281
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Inflammatory abnormality of the skin, Sinusitis, Failure to thrive, Absence of lymph node germina... ORPHA:277
Trichothiodystrophy 1, Photosensitive
Brittle hair, Flexion contracture, Sparse hair, Tiger tail banding, Decreased circulating IgG lev... OMIM:601675
Immunodeficiency With Hyper-Igm, Type 3
Impaired Ig class switch recombination, Absence of lymph node germinal center, Impaired memory B ... OMIM:606843
Immunodeficiency 32B
Hepatomegaly, Recurrent respiratory infections, Sinusitis, Neutrophilia, Pneumonia, Eosinophilia,... OMIM:226990
Autoimmune Polyendocrinopathy Type 4
Osteopenia, Atrophic gastritis, Xerostomia, Tubulointerstitial nephritis, Leukopenia, Hashimoto t... ORPHA:227990
Immunodeficiency 7
Hepatomegaly, Autoimmune hemolytic anemia, Recurrent respiratory infections, Splenomegaly, Diarrh... OMIM:615387
Kid Syndrome
Angular cheilitis, Posterior blepharitis, Scarring alopecia of scalp, Recurrent cutaneous fungal ... ORPHA:477
Netherton Syndrome
Dehydration, Acanthosis nigricans, Emphysema, Short stature, Sparse eyebrow, Decreased circulatin... ORPHA:634
Peeling Skin Syndrome 1
Brittle hair, Short stature, Eosinophilia, Pruritus, Asthma, Increased circulating IgE level, Ony... OMIM:270300
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Epicanthus, Pneumonia, Diarrhea, Recurrent upper respiratory tract infections, Decreased circulat... OMIM:614069
Tooth Agenesis, Selective, 8
Sparse eyebrow, Dry skin, Sparse hair OMIM:617073
Immunodeficiency With Hyper-Igm, Type 5
Impaired Ig class switch recombination, Epididymitis, Lymphadenopathy, Increased circulating IgM ... OMIM:608106
Immunodeficiency 23
Increased circulating IgG level, High palate, Neutropenia, Hemolytic anemia, Membranoproliferativ... OMIM:615816
Immunodeficiency 36 With Lymphoproliferation
Lymphopenia, Short stature, Splenomegaly, Chronic diarrhea, Enlarged tonsils, Bronchiectasis, Rec... OMIM:616005
Generalized Eruptive Histiocytosis
Maculopapular exanthema, Pruritus, Hypereosinophilia, Lymphadenopathy, Leukemia, Histiocytosis ORPHA:157991
Adult-Onset Still Disease
Elevated hepatic transaminase, Hepatomegaly, Pericarditis, Generalized lymphadenopathy, Skin rash... ORPHA:829
Palmoplantar Keratoderma, Nagashima Type
Epidermal acanthosis OMIM:615598
Immunodeficiency 48
Hepatomegaly, Recurrent respiratory infections, Failure to thrive, Pneumonia, Absence of CD8-posi... OMIM:269840
Congenital Disorder Of Glycosylation, Type Iil
Impaired T cell function, Inflammation of the large intestine, Hepatomegaly, Patent ductus arteri... OMIM:614576
Cinca Syndrome
Skin rash, Eosinophilia, Lymphedema, Leukocytosis, Patellar overgrowth, Uveitis, Hepatosplenomega... OMIM:607115
Igg4-Related Kidney Disease
Lymphadenitis, Abnormal lung morphology, Pedal edema, Tubulointerstitial nephritis, Increased cir... ORPHA:449395
Whim Syndrome
Abnormal small intestine morphology, Sinusitis, Severe periodontitis, Pneumonia, Respiratory trac... ORPHA:51636
Autoimmune Polyendocrinopathy Type 3
Osteopenia, Atrophic gastritis, Xerostomia, Tubulointerstitial nephritis, Leukopenia, Hashimoto t... ORPHA:227982
Immunodeficiency 68
Recurrent skin infections, Abscess, Lymphadenitis, T lymphocytopenia, B lymphocytopenia, Septic a... OMIM:612260
Erythroderma Desquamativum
Seborrheic dermatitis ORPHA:314
Acral Peeling Skin Syndrome
Erythema, Scaling skin, Excessive wrinkling of palmar skin ORPHA:263534
Microsporidiosis
Myositis, Sinusitis, Cholangitis, Bronchitis, Anorexia, Lymphadenitis, Abnormality of the spleen,... ORPHA:2552
B-Cell Expansion With Nfkb And T-Cell Anergy
Decreased specific antibody response to polysaccharide vaccine, Splenomegaly, Decreased circulati... OMIM:616452
Woolly Hair, Autosomal Recessive 3
Sparse scalp hair, Curly hair, Sparse eyelashes, Fine hair, Sparse hair, Trichorrhexis nodosa OMIM:616760
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Sinusitis, Severe B lymphocytopenia, Hepatomegaly, Autoimmune thrombocytopenia, Chronic diarrhea,... OMIM:102700
Crandall Syndrome
Alopecia, Brittle hair, Fine hair, Pili torti, Sparse body hair, Aplasia/Hypoplasia of the eyebrow ORPHA:202
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis
Parakeratosis, Pruritus, Erythema, Leukonychia, Hyperkeratosis, Tooth agenesis, Palmoplantar kera... OMIM:615821
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Herpes simplex encephalitis, Increased circulating IgE level, Bronchiectasis, Lymphadenopathy, He... OMIM:618982
Omenn Syndrome
Hepatomegaly, Alopecia, Severe B lymphocytopenia, Pneumonia, Eosinophilia, Splenomegaly, Diarrhea... OMIM:603554
Lamellar Ichthyosis
Recurrent respiratory infections, Short stature, Abnormality of the dentition, Pruritus, Lack of ... ORPHA:313
Granulomatous Disease, Chronic, X-Linked
Recurrent bacterial skin infections, Hepatomegaly, Osteomyelitis, Liver abscess, Discoid lupus ra... OMIM:306400
Kindler Epidermolysis Bullosa
Flexion contracture, Gingivitis, Inflammation of the large intestine, Colitis, Conjunctivitis, Pe... ORPHA:2908
Epidermolysis Bullosa Simplex With Circinate Migratory Erythema
Abnormality of the knee, Parakeratosis, Oral mucosal blisters, Pruritus, Palmoplantar hyperkerato... ORPHA:158681
Agammaglobulinemia, X-Linked
T lymphocytopenia, Conjunctivitis, Decreased circulating IgE, Neutropenia, Decreased circulating ... OMIM:300755
Pachydermoperiostosis
Edema, Genu varum, Hepatomegaly, Acne, Abnormal fingernail morphology, Thickened skin, Osteoporos... ORPHA:2796
Hypertrichosis, Anterior Cervical
Anterior cervical hypertrichosis OMIM:600457
Hypertrichosis Universalis Congenita, Ambras Type
Congenital, generalized hypertrichosis OMIM:145701
Poikiloderma With Neutropenia
Edema, Leukopenia, Conjunctivitis, Neutropenia, Joint laxity, Short stature, Sparse eyebrow, Recu... OMIM:604173
Myalgia-Eosinophilia Syndrome Associated With Tryptophan
Eosinophilia, Abnormal pleura morphology, Thickened skin, Limitation of joint mobility, Urticaria... ORPHA:2582
Prolidase Deficiency
Hepatomegaly, Chronic lung disease, Eczema, Elevated circulating aspartate aminotransferase conce... OMIM:170100
Erythrokeratodermia Variabilis Et Progressiva 5
Abnormality of the dentition, Abnormal hair morphology, Joint stiffness, Palmoplantar hyperkerato... OMIM:617756
Idiopathic Hypereosinophilic Syndrome
Respiratory distress, Generalized lymphadenopathy, Cholangitis, Pulmonary embolism, Feeding diffi... ORPHA:3260
Rosaï-Dorfman Disease
Dysgammaglobulinemia, Erythema, Osteolysis, Lymphadenopathy, Anemia ORPHA:158014
Pityriasis Rubra Pilaris
Pruritus, Pustule, Eczema, Erythroderma ORPHA:2897
Acquired Ichthyosis
Recurrent skin infections, Pruritus, Erythema, Hyperkeratosis, Palmoplantar keratoderma, Ichthyos... ORPHA:454
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency
Elevated hepatic transaminase, Predominantly dermal neutrophilic infiltrate, Parakeratosis, Super... ORPHA:284426
Immunodeficiency 53
Impaired lymphocyte transformation with phytohemagglutinin, Neutrophilia, Skin rash, Recurrent pn... OMIM:617585
Aspergillosis
Sinusitis, Cough, Neutropenia, Infectious encephalitis, Chronic pulmonary obstruction, Bronchiect... ORPHA:1163
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Joint dislocation, Hepatomegaly, Lymphopenia, Recurrent respiratory infections, Recurrent skin in... OMIM:620210
Drug Reaction With Eosinophilia And Systemic Symptoms
Acute hepatic failure, Elevated hepatic transaminase, Skin rash, Eosinophilia, Pustule, Myocardit... ORPHA:139402
Mal De Meleda
Inflammatory abnormality of the skin, Superficial dermal perivascular inflammatory infiltrate, Ep... ORPHA:87503
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma
Alopecia, Alopecia of scalp, Nail dystrophy, Scaling skin, Dry skin OMIM:618373
Palmoplantar Keratoderma And Congenital Alopecia 2
Alopecia totalis, Facial erythema, Nail dystrophy, Nail dysplasia, Dry skin OMIM:212360
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Recurrent bacterial skin infections, Hepatomegaly, Osteomyelitis, Liver abscess, Discoid lupus ra... OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Recurrent bacterial skin infections, Hepatomegaly, Osteomyelitis, Liver abscess, Discoid lupus ra... OMIM:233710
Isolated Agammaglobulinemia
Recurrent cutaneous abscess formation, Recurrent respiratory infections, Sinusitis, Skin rash, Pn... ORPHA:229717
Ichthyosis, Congenital, Autosomal Recessive 7
Erythroderma OMIM:615022
Aicardi-Goutieres Syndrome 5
Arthropathy, Chilblains, Feeding difficulties in infancy, Flexion contracture, Increased circulat... OMIM:612952
Systemic Mastocytosis With Associated Hematologic Neoplasm
Normocytic anemia, Pallor, Myeloid leukemia, Nausea, Flushing, Hepatomegaly, Neutrophilia, Abdomi... ORPHA:98849
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Recurrent bacterial skin infections, Hepatomegaly, Osteomyelitis, Liver abscess, Discoid lupus ra... OMIM:233690
Ectodermal Dysplasia 9, Hair/Nail Type
Concave nail, Absent eyelashes, Atrichia, Nail dystrophy, Nail dysplasia, Sparse hair, Absent hair OMIM:614931
Leukocyte Adhesion Deficiency, Type Iii
Hepatomegaly, Extramedullary hematopoiesis, Recurrent skin infections, Epistaxis, Splenomegaly, L... OMIM:612840
Keratoderma Hereditarium Mutilans With Ichthyosis
Alopecia, Scaling skin on fingertip, Parakeratosis, Epidermal acanthosis, Hypergranulosis, Palmop... ORPHA:79395
Immunodeficiency 52
Decreased proportion of CD4-positive T cells, Failure to thrive, Autoimmune thrombocytopenia, Spl... OMIM:617514
Immunodeficiency, Common Variable, 3
Recurrent respiratory infections, Decreased proportion of class-switched memory B cells, Decrease... OMIM:613493
Immunodeficiency 24
Decreased circulating IgG level, Lymphopenia, Decreased CD4:CD8 ratio, Respiratory tract infectio... OMIM:615897
Olmsted Syndrome 2
Parakeratosis, Epidermal acanthosis, Pruritus, Perioral hyperkeratosis, Cheilitis, Palmoplantar h... OMIM:619208
Zygomycosis
Fasciitis, Sinusitis, Periorbital edema, Acute infectious pneumonia, Unusual gastrointestinal inf... ORPHA:73263
Agammaglobulinemia 6, Autosomal Recessive
Diarrhea, Recurrent pneumonia, Abnormal T cell morphology, Agammaglobulinemia, Decreased circulat... OMIM:612692
Brucellosis
Liver abscess, Bronchitis, Anorexia, Knee osteoarthritis, Increased circulating IgG level, Leukop... ORPHA:1304
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Epicanthus, Sinusitis, Failure to thrive, Pneumonia, Short stature, Protruding tongue, Malabsorpt... OMIM:242860
Ichthyosis With Confetti
Ectropion, Short stature, Pruritus, Palmoplantar hyperkeratosis, Ichthyosis, Hypoplastic nipples,... OMIM:609165
Lymphatic Malformation 3
Recurrent skin infections OMIM:613480
Ichthyosis, Congenital, Autosomal Recessive 5
Parakeratosis, Epidermal acanthosis, Acanthocytosis, Palmoplantar keratoderma, Congenital nonbull... OMIM:604777
Idiopathic Chronic Eosinophilic Pneumonia
Abnormality of the gastrointestinal tract, Crackles, Atelectasis, Leukocytosis, Increased circula... ORPHA:2902
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Atrophic gastritis, Chronic active hepatitis, Alopecia, Premature ovarian insufficiency, Female h... OMIM:240300
Autoimmune Disease, Multisystem, With Facial Dysmorphism
Reduced forced expiratory volume in one second, Feeding difficulties in infancy, Gastroesophageal... OMIM:613385
Cystic Echinococcosis
Abnormal peritoneum morphology, Abdominal symptom, Abnormality of the testis size, Peritoneal abs... ORPHA:400
Plague
Respiratory distress, Chapped lip, Edema, Anorexia, Lymphadenitis, Bloody diarrhea, Acute infecti... ORPHA:707
Mogs-Cdg
Respiratory distress, Apnea, Edema, Cardiomegaly, Polyhydramnios, High palate, Decreased circulat... ORPHA:79330
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome
Abnormal eyelash morphology, Sparse scalp hair, Sparse body hair, Alopecia universalis ORPHA:1008
Agammaglobulinemia 2, Autosomal Recessive
Recurrent respiratory infections, Recurrent pneumonia, Abnormal T cell morphology, Agammaglobulin... OMIM:613500
Olmsted Syndrome, X-Linked
Subungual hyperkeratosis, Parakeratosis, Epidermal acanthosis, Alopecia totalis, Posterior blepha... OMIM:300918
Celiac Disease, Susceptibility To, 1
Iron deficiency anemia, Vomiting, Alopecia, Short stature, Abdominal pain, Osteoporosis, Delayed ... OMIM:212750
Ichthyosis, Annular Epidermolytic, 1
Abnormal hair morphology, Scaling skin, Erythema, Abnormality of the nail OMIM:607602
Anonychia With Flexural Pigmentation
Macular telangiectasia, Abnormal hair morphology, Carious teeth, Hyperkeratosis, Anonychia, Folli... ORPHA:69125
Primary Intestinal Lymphangiectasia
Peritoneal effusion, Edema, Abnormal small intestinal villus morphology, Decreased proportion of ... ORPHA:90362
Palmoplantar Keratoderma And Congenital Alopecia 1
Alopecia, Brittle hair, Sparse eyebrow, Leukonychia, Nail dysplasia, Sparse hair, Palmoplantar er... OMIM:104100
Erythrokeratodermia Variabilis Et Progressiva 1
Erythroderma OMIM:133200
Hypereosinophilic Syndrome, Idiopathic
Hepatomegaly, Eosinophilia, Pruritus, Splenomegaly, Myeloproliferative disorder OMIM:607685
Acute Radiation Syndrome
Inflammatory abnormality of the skin, Diarrhea, Skin ulcer, Telangiectasia, Hyperkeratosis, Inter... ORPHA:454831
Parana Hard Skin Syndrome
Short stature, Thickened skin, Respiratory insufficiency, Growth delay, Hyperkeratosis, Generaliz... ORPHA:2812
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Decreased proportion of CD4-positive T cells, Recurrent respiratory infections, Autoimmune thromb... OMIM:300853
Autosomal Dominant Severe Congenital Neutropenia
Osteopenia, Aplastic anemia, Oral ulcer, Gingivitis, Periodontitis, Neutropenia, Premature loss o... ORPHA:486
Tularemia
Respiratory distress, Abnormal nasopharyngeal adenoid morphology, Oral ulcer, Conjunctivitis, Oti... ORPHA:3392
Riddle Syndrome
Conjunctival telangiectasia, Generalized lymphadenopathy, Bronchitis, Scaling skin, Otitis media,... ORPHA:420741
Cervical Hypertrichosis With Underlying Kyphoscoliosis
Anterior cervical hypertrichosis, Sacral hypertrichosis, Lumbar hypertrichosis, Thoracic hypertri... OMIM:117850
C1Q Deficiency 2
Chilblains, Discoid lupus rash, Atelectasis, Decreased circulating C1q concentration, Bronchiecta... OMIM:620321
Immunodeficiency 15A
Decreased proportion of CD8-positive T cells, Decreased proportion of CD4-positive helper T cells... OMIM:618204
Ectodermal Dysplasia 7, Hair/Nail Type
Sparse scalp hair, Alopecia, Brittle hair, Sparse eyelashes, Abnormal sweat gland morphology, Spa... OMIM:614929
Hepatic Venoocclusive Disease With Immunodeficiency
Abnormality of the liver, Decreased circulating IgG level, Absence of lymph node germinal center OMIM:235550
Igg4-Related Pachymeningitis
Sinusitis, Eosinophilia, Increased circulating IgG4 level, Lymphadenitis, Abnormal lung morpholog... ORPHA:449427
Immunodeficiency 25
Autoimmune hemolytic anemia, Eosinophilia, Increased circulating IgA level, Increased circulating... OMIM:610163
Leishmaniasis
Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Abnormal macrophage morphology, Abnorm... ORPHA:507
Björnstad Syndrome
Alopecia, Brittle hair ORPHA:123
Growth Delay-Intellectual Disability-Hepatopathy Syndrome
Joint laxity, Elevated hepatic transaminase, Oligohydramnios, Cholestasis, Hepatosplenomegaly, Gr... ORPHA:541423
Zika Virus Disease
Maculopapular exanthema, Skin rash, Edema, Ankle swelling, Pruritus, Thrombocytopenia, Wrist swel... ORPHA:448237
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Chronic gastritis, Increased circulating interleukin 6 concentration, Recurrent respiratory infec... OMIM:301074
X-Linked Dominant Chondrodysplasia Punctata
Scarring alopecia of scalp, Abnormal lung morphology, Flexion contracture, Neonatal epiphyseal st... ORPHA:35173
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies
Osteopenia, Gastroesophageal reflux, Recurrent aspiration pneumonia, Neonatal respiratory distres... ORPHA:221139
Agammaglobulinemia 10, Autosomal Dominant
Recurrent respiratory infections, Transient neutropenia, Agammaglobulinemia, Decreased circulatin... OMIM:619707
Proteasome-Associated Autoinflammatory Syndrome 1
Increased circulating interleukin 6 concentration, Microcytic anemia, Cardiomegaly, Flexion contr... OMIM:256040
Proteus Syndrome
Epidermal acanthosis, Splenomegaly, Hyperkeratosis, Limbal dermoid, Lymphangioma, Open mouth, Dow... OMIM:176920
Squamous Cell Carcinoma Of The Esophagus
Nausea and vomiting, Feeding difficulties in infancy, Esophageal carcinoma, Lymphadenopathy, Cough ORPHA:99977
Kimura Disease
Eosinophilia, Follicular hyperplasia, Increased circulating IgE level, Lymphadenopathy, Abnormal ... ORPHA:482
Lymphoproliferative Syndrome, X-Linked, 2
Hepatomegaly, Pancytopenia, Recurrent respiratory infections, Acne, Recurrent skin infections, Ap... OMIM:300635
Primary Myelofibrosis
Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Thrombocytosis, Portal hypertension, Ca... ORPHA:824
Candidiasis, Familial, 8
Chronic oral candidiasis, Blepharitis, Cheilitis, Seborrheic dermatitis OMIM:615527
Immunodeficiency 49
Impaired lymphocyte transformation with phytohemagglutinin, Natal tooth, Psoriasiform dermatitis,... OMIM:617237
Incontinentia Pigmenti
Ridged nail, Conical tooth, Uveitis, Coarse hair, Oligodontia, Pallor, Sparse hair, Atrophic, pat... OMIM:308300
Seborrhea-Like Dermatitis With Psoriasiform Elements
Seborrheic dermatitis OMIM:610227
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency
Pneumonia, Lymphadenitis, Abnormal circulating interleukin concentration, Salmonella osteomyeliti... ORPHA:319552
Ichthyosis Prematurity Syndrome
Epidermal acanthosis, Allergic rhinitis, Polyhydramnios, Pruritus, Neonatal asphyxia, Asthma, Der... OMIM:608649
Aquagenic Palmoplantar Keratoderma
Recurrent sinopulmonary infections, Edema, Excessive skin wrinkling on dorsum of hands and finger... ORPHA:498359
Hyperimmunoglobulinemia D With Periodic Fever
Gastrointestinal hemorrhage, Hepatomegaly, Intestinal obstruction, Increased circulating IgA leve... ORPHA:343
Complement Component C1R/C1S Deficiency
Discoid lupus rash, Arthritis, Nephritis OMIM:216950
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Severe B lymphocytopenia, Hepatic fibrosis, Cough, Sparse hair, Microdontia, Intrauterine growth ... OMIM:620005
Bloom Syndrome
Facial erythema, Decreased circulating IgG level, Hepatic steatosis, Cryptorchidism, Bronchiectas... OMIM:210900
Hereditary Progressive Mucinous Histiocytosis
Pruritus, Mucinous histiocytosis, Lymphadenopathy ORPHA:158025
Mucoepithelial Dysplasia, Hereditary
Alopecia, Pneumonia, Eosinophilia, Erythematous oral mucosa, Recurrent pneumonia, Chronic diarrhe... OMIM:158310
Lipodystrophy, Congenital Generalized, Type 4
Osteopenia, Hepatomegaly, Elevated hepatic transaminase, Pyloric stenosis, Splenomegaly, Recurren... OMIM:613327
Immunodeficiency 87 And Autoimmunity
Atrophic gastritis, Villous atrophy, Abnormal lymphocyte proliferation, Secretory diarrhea, Intra... OMIM:619573
Ichthyosis, Congenital, Autosomal Recessive 6
Parakeratosis, Epidermal acanthosis, Hyperkeratosis, Palmoplantar keratoderma, Scaling skin, Gene... OMIM:612281
Cronkhite-Canada Syndrome
Anorexia, Lymphedema, Hypoplastic toenails, Hamartomatous polyposis, Stomach cancer, Dystrophic f... ORPHA:2930
Pulmonary Nodular Lymphoid Hyperplasia
Nodular pattern on pulmonary HRCT, Follicular hyperplasia, Dyspnea, Mediastinal lymphadenopathy, ... ORPHA:60026
Sjögren-Larsson Syndrome
Short stature, Abnormal dental enamel morphology, Joint stiffness, Erythema, Urticaria, Hyperkera... ORPHA:816
Atrophoderma Vermiculata
Pruritus, Abnormal epidermal morphology, Erythema, Follicular hyperkeratosis, Hyperkeratotic papule ORPHA:79100
Lig4 Syndrome
Hepatomegaly, Pancytopenia, Epicanthus, Telecanthus, Telangiectasia of the skin, Malabsorption, C... ORPHA:99812
Ataxia-Telangiectasia
Conjunctival telangiectasia, Sinusitis, T lymphocytopenia, Hypoplasia of the thymus, Decreased ci... OMIM:208900
Localized Dystrophic Epidermolysis Bullosa, Acral Form
Abnormality of the knee, Recurrent loss of toenails and fingernails, Esophageal stricture, Erythe... ORPHA:158673
Erythrokeratodermia Variabilis Et Progressiva 2
Erythema, Hypertrichosis OMIM:617524
Palmoplantar Keratoderma, Norrbotten Recessive Type
Hyperkeratosis, Palmoplantar keratoderma, Recurrent cutaneous fungal infections OMIM:244850
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Partial IgA deficiency, Acute otitis media, T lymphocytopenia, Decreased circulating IgG level, A... ORPHA:35078
Insulin-Resistance Syndrome Type A
Hyperkeratosis, Generalized hirsutism, Delayed puberty ORPHA:2297
Cyclic Neutropenia
Premature loss of permanent teeth, Sinusitis, Oral ulcer, Gingivitis, Periodontitis, Otitis media... ORPHA:2686
Olmsted Syndrome 1
Subungual hyperkeratosis, Parakeratosis, Pruritus, Hyperparakeratosis, Periorificial hyperkeratos... OMIM:614594
Localized Scleroderma
Fasciitis, Abnormal skin adnexa morphology, Abnormality of the dentition, Thickened skin, Erythem... ORPHA:90289
Erythrokeratodermia Variabilis Et Progressiva 6
Pruritus, Superficial dermal perivascular inflammatory infiltrate OMIM:618531
Kikuchi-Fujimoto Disease
Generalized lymphadenopathy, Anorexia, Oral ulcer, Leukopenia, Lymphocytosis, Neutropenia, Hepato... ORPHA:50918
Immunoglobulin A Deficiency 2
Recurrent sinopulmonary infections, Abnormal lymphocyte morphology, Recurrent infection of the ga... OMIM:609529
Intellectual Developmental Disorder With Speech Delay, Dysmorphic Facies, And T-Cell Abnormalities
Thin upper lip vermilion, Epicanthus, Eosinophilia, Narrow mouth, Asthma, Feeding difficulties, O... OMIM:618092
Pseudo-Torch Syndrome 3
Apnea, Cardiomegaly, Lymphadenitis, Leukocytosis, Respiratory insufficiency, Congenital thrombocy... OMIM:618886
Autosomal Recessive Generalized Epidermolysis Bullosa Simplex
Ridged nail, Abnormal fingernail morphology, Oral mucosal blisters, Pruritus, Palmoplantar hyperk... ORPHA:89838
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Recurrent skin infections, Short stature, Decreased circulating antibody level, Growth delay, Fee... OMIM:617744
Erythrokeratodermia Variabilis Et Progressiva 4
Erythema, Epidermal acanthosis OMIM:617526
Bullous Impetigo
Pustule, Recurrent bacterial skin infections, Abnormality of the lymphatic system, Septic arthritis ORPHA:36237
Incontinentia Pigmenti
Uveitis, Orofacial cleft, Abnormal toenail morphology, Infectious encephalitis, Abnormality of th... ORPHA:464
Pili Torti-Onychodysplasia Syndrome
Absent eyebrow, Alopecia, Brittle hair, Absent eyelashes, Dry skin, Nail dystrophy, Trichodysplas... ORPHA:2890
Peeling Skin Syndrome 6
Dry skin, Scaling skin OMIM:618084
Mycosis Fungoides
Pruritus, Psoriasiform dermatitis, Eczema, Lymphadenopathy OMIM:254400
Dominant Beta-Thalassemia
Extramedullary hematopoiesis, Anisocytosis, Hepatic fibrosis, Pallor, Osteoporosis, Skin ulcer, C... ORPHA:231226
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Failure to thrive, Skin rash, Recurrent aphthous stomatitis, Otitis media, Chronic oral candidias... ORPHA:275
Pseudopelade Of Brocq
Sparse scalp hair, Alopecia, Abnormal hair morphology, Abnormality of the nail, Aplasia/Hypoplasi... ORPHA:129
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Recurrent sinopulmonary infections, Erythema, Enterocolitis, Ulcerative colitis, Decreased propor... OMIM:614878
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Neutrophilia, Skin rash, Failure to thrive in infancy, Increased circulating IgA level, Abdominal... OMIM:617099
Bullous Dystrophy, Hereditary Macular Type
Alopecia totalis, Abnormality of the nail OMIM:302000
Alveolar Echinococcosis
Liver abscess, Cholangitis, Pedal edema, Vomiting, Cough, Portal hypertension, Abdominal pain, Ab... ORPHA:284
Immunodeficiency, Common Variable, 10
Trachyonychia, Psoriasiform dermatitis, Frequent Giardia lamblia infestation, Alopecia totalis, P... OMIM:615577
Mantle Cell Lymphoma
Abnormality of the gastrointestinal tract, Anorexia, Splenomegaly, Weight loss, Lymphadenopathy ORPHA:52416
Combined Immunodeficiency Due To Dock8 Deficiency
Recurrent bacterial skin infections, Recurrent respiratory infections, Pneumonia, Asthma, Increas... ORPHA:217390
Rothmund-Thomson Syndrome, Type 1
Absent eyebrow, Premature ovarian insufficiency, Short stature, Thin nail, Conical tooth, Absent ... OMIM:618625
Coccidioidomycosis
Respiratory distress, Abnormality of the spleen, Increased circulating IgG level, Abnormality of ... ORPHA:228123
3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form
Short stature, Megaloblastic anemia, Abnormality of hair texture, Feeding difficulties, Gastroeso... ORPHA:79351
9Q33.3Q34.11 Microdeletion Syndrome
Patellar hypoplasia, Prominent metopic ridge, Highly arched eyebrow, Cryptorchidism, Patent ductu... ORPHA:495818
Chronic Mucocutaneous Candidiasis
Recurrent respiratory infections, Dyspareunia, Skin rash, Abnormal dental enamel morphology, Abno... ORPHA:1334
Palmoplantar Carcinoma, Multiple Self-Healing
Parakeratosis, Epidermal acanthosis, Ectodermal dysplasia, Palmoplantar keratoderma, Nail dystrop... OMIM:615225
Ige Responsiveness, Atopic
Eczema, Allergic rhinitis OMIM:147050
Immunodeficiency 32A
Lymphadenitis, Granuloma, Lymphadenopathy OMIM:614893
Idiopathic Localized Lipodystrophy
Erythema, Scaling skin ORPHA:90158
Ichthyosis, Hystrix-Like, With Deafness
Sparse scalp hair, Sparse eyelashes, Absent eyelashes, Scarring alopecia of scalp, Sparse eyebrow... OMIM:602540
Dyskeratosis Congenita
Abnormality of neutrophils, White hair, Anorectal anomaly, Premature graying of hair, Periodontit... ORPHA:1775
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Abnormality of the tonsils, Decreased proportion of CD8-positive T cells, Decreased circulating t... OMIM:611926
Griscelli Syndrome
Abnormal eyebrow morphology, Hepatomegaly, Short stature, Abnormality of neutrophils, Abnormal ey... ORPHA:381
Immunodeficiency 8 With Lymphoproliferation
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... OMIM:615401
Autosomal Dominant Epidermolytic Ichthyosis
Poor appetite, Skin ulcer, Weight loss, Hyperkeratosis, Congenital bullous ichthyosiform erythrod... ORPHA:312
Ichthyosis Vulgaris
Absent keratohyalin granules, Dry skin OMIM:146700
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... ORPHA:70593
Immunodeficiency, Common Variable, 11
Recurrent respiratory infections, Failure to thrive, Mucoid diarrhea, Aphthous ulcer, Increased c... OMIM:615767
Microgastria-Limb Reduction Defect Syndrome
Hepatomegaly, Failure to thrive, Intestinal malrotation, Hiatus hernia, Elbow dislocation, Esopha... ORPHA:2538
Monilethrix
Abnormal eyebrow morphology, Brittle hair, Slow-growing hair, Abnormal eyelash morphology, Fine h... ORPHA:573
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Alopecia, Recurrent skin infections, Craniosynostosis, Oral mucosal blisters, Erythema, Onychogry... ORPHA:79396
Immunodeficiency 76
Splenomegaly, Chronic diarrhea, Recurrent pneumonia, Lymphadenopathy, Growth delay, T lymphocytop... OMIM:619164
Autoinflammation, Immune Dysregulation, And Eosinophilia
Eosinophilic liver infiltration, Short stature, Eosinophilia, Asthma, Atopic dermatitis, Hepatosp... OMIM:618999
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Respiratory distress, Flexion contracture, Leukopenia, Conjunctivitis, Decreased circulating IgG ... ORPHA:505248
Keratosis Linearis With Ichthyosis Congenita And Sclerosing Keratoderma
Parakeratosis, Hyperconvex nail, Linear arrays of macular hyperkeratoses in flexural areas, Honey... OMIM:601952
Keratolytic Winter Erythema
Pustule ORPHA:50943
Ichthyosis, Annular Epidermolytic, 2
Erythema, Scaling skin OMIM:620148
Nocardiosis
Respiratory distress, Liver abscess, Anorexia, Lymphadenitis, Nonproductive cough, Conjunctivitis... ORPHA:31204
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Splenomegaly, Recurrent upper respiratory tract infections, Abnormal pulmonary interstitial morph... OMIM:613101
Bone Marrow Failure Syndrome 3
Congenital hip dislocation, Aplastic anemia, Pancreatic steatosis, Oral ulcer, Reduced bone miner... OMIM:617052
Ichthyosis Hystrix Of Curth-Macklin
Recurrent skin infections, Diffuse palmoplantar hyperkeratosis, Flexion contracture, Hyperkeratos... ORPHA:79503
Hypotrichosis 6
Brittle hair, Sparse eyelashes, Pruritus, Sparse eyebrow, Erythema, Follicular hyperkeratosis, Sp... OMIM:607903
Dystrophic Epidermolysis Bullosa Pruriginosa
Abnormality of the wrist, Pruritus, Increased circulating IgE level, Abnormality of the elbow, Hy... ORPHA:89843
Panniculitis-Induced Localized Lipodystrophy
Reduced subcutaneous adipose tissue, Inflammatory abnormality of the skin, Abnormal immunoglobuli... ORPHA:90159
Hereditary Spherocytosis
Reticulocytosis, Hepatomegaly, Extramedullary hematopoiesis, Maculopapular exanthema, Spontaneous... ORPHA:822
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections
Increased circulating interleukin 6 concentration, Recurrent skin infections, Increased circulati... OMIM:618944
Eosinophilic Granulomatosis With Polyangiitis
Myositis, Sinusitis, Tubulointerstitial nephritis, Gastroesophageal reflux, Cough, Acrocyanosis, ... ORPHA:183
Aggressive Systemic Mastocytosis
Anorexia, Neutropenia, Flushing, Maculopapular exanthema, Portal hypertension, Abdominal pain, Le... ORPHA:98850
Acute Myelomonocytic Leukemia
Eosinophilia, Dyspnea, Leukocytosis, Abnormality of the gingiva, Weight loss, Anemia, Pallor, Thr... ORPHA:517
Beta-Thalassemia Intermedia
Osteopenia, Extramedullary hematopoiesis, Reduced bone mineral density, Abnormality of the liver,... ORPHA:231222
Eosinophilic Gastroenteritis
Abnormality of the gastrointestinal tract, Allergic rhinitis, Eosinophilia, Malabsorption, Edema,... ORPHA:2070
Proteasome-Associated Autoinflammatory Syndrome 2
Increased CD4:CD8 ratio, Neutrophilic infiltration of the skin, Skin rash, Increased circulating ... OMIM:618048
Erosive Pustular Dermatosis Of The Scalp
Pustule, Scarring alopecia of scalp, Erythema, Abnormal hair morphology ORPHA:222
Peeling Skin With Leukonychia, Acral Punctate Keratoses, Cheilitis, And Knuckle Pads
Epidermal acanthosis, Angular cheilitis, Acantholysis, Pruritus, Punctate palmoplantar hyperkerat... OMIM:616295
Beta-Thalassemia Major
Extramedullary hematopoiesis, Hepatic fibrosis, Pallor, Hepatomegaly, Anemia of inadequate produc... ORPHA:231214
Porokeratosis Of Mibelli
Pruritus, Hyperkeratosis, Cutaneous photosensitivity, Porokeratosis ORPHA:735
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia
Ridged nail, Absent eyebrow, Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Facial erythema... ORPHA:1010
Immunodeficiency 109 With Lymphoproliferation
Pancytopenia, Generalized lymphadenopathy, Decreased lymphocyte proliferation in response to anti... OMIM:620282
Rothmund-Thomson Syndrome Type 2
Osteopenia, Joint dislocation, Aplastic anemia, Facial edema, Patellar hypoplasia, Facial erythem... ORPHA:221016
Pediatric Systemic Lupus Erythematosus
Myositis, Edema, Oral ulcer, Leukopenia, Vomiting, Decreased circulating complement C4 concentrat... ORPHA:93552
Immunodeficiency 44
Elevated circulating alanine aminotransferase concentration, Decreased circulating total IgM, Abn... OMIM:616636
Smith-Kingsmore Syndrome
Curly hair, Thin upper lip vermilion, Rhizomelia, Large for gestational age, Thrombocytopenia, Cr... OMIM:616638
Trichothiodystrophy 3, Photosensitive
Brittle hair, Bilateral cryptorchidism, Congenital ichthyosiform erythroderma, Neutropenia, Tiger... OMIM:616395
Diamond-Blackfan Anemia 7
Osteopenia, Macrocytic anemia, Polyhydramnios, Patent ductus arteriosus, Osteoporosis, Cleft pala... OMIM:612562
Esophagitis, Eosinophilic, 2
Eosinophilia, Vomiting, Esophagitis, Dysphagia, Failure to thrive OMIM:613412
Esophagitis, Eosinophilic, 1
Eosinophilia, Vomiting, Esophagitis, Dysphagia, Failure to thrive OMIM:610247
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome
Fasciitis, Myositis, Periorbital edema, Uveitis, Conjunctivitis, Vomiting, Abdominal pain, Recurr... ORPHA:32960
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies
Short stature, Microcytic anemia, Deep philtrum, Recurrent pneumonia, Asthma, Decreased circulati... OMIM:619750
Hereditary Folate Malabsorption
Nausea and vomiting, Recurrent respiratory infections, Pancytopenia, Eosinophilia, Anorexia, Mega... ORPHA:90045
Congenital Panfollicular Nevus
Pruritus, Hyperkeratosis ORPHA:139414
Transcobalamin Deficiency
Lymphopenia, Pancytopenia, Decreased circulating antibody level, Decreased circulating total IgM,... ORPHA:859
Ichthyosis, Spastic Quadriplegia, And Impaired Intellectual Development
Asthma, Erythema, Gingivitis, Growth delay, Hyperkeratosis, Scaling skin, Congenital nonbullous i... OMIM:614457
Bacterial Toxic-Shock Syndrome
Respiratory distress, Fasciitis, Sinusitis, Myositis, Edema, Tachypnea, Increased circulating mye... ORPHA:36234
Immunodeficiency 66
Pustule, Recurrent skin infections OMIM:618847
Felty Syndrome
Sinusitis, Neutropenia, Chronic otitis media, Abnormal lymphocyte morphology, Hepatomegaly, Recur... ORPHA:47612
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Hepatomegaly, Autoimmune hemolytic anemia, Recurrent respiratory infections, Failure to thrive, L... OMIM:618495
Congenital Disorder Of Glycosylation, Type Iq
Elevated hepatic transaminase, Failure to thrive, Eczema, Microcytic anemia, Cutis laxa, Hyperker... OMIM:612379
Myoectodermal Gonadal Dysgenesis Syndrome
Accessory spleen, Smooth philtrum, Epicanthus, Small for gestational age, Short stature, Highly a... OMIM:618419
Dermatosparaxis Ehlers-Danlos Syndrome
Osteopenia, Joint dislocation, Epicanthus, Severe short stature, Abnormality of subcutaneous fat ... ORPHA:1901
H Syndrome
Microcytic anemia, Alopecia, Psoriasiform dermatitis, Short stature, Cleft upper lip, Recurrent p... ORPHA:168569
Congenital Disorder Of Glycosylation, Type If
Failure to thrive, Flexion contracture, Feeding difficulties, Hyperkeratosis, Thin vermilion bord... OMIM:609180
Epidermolysis Bullosa, Junctional 5A, Intermediate
Absent pubic hair, Nail dystrophy, Absent axillary hair, Onycholysis of distal fingernails, Alope... OMIM:619816
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Oral ulcer, Leukopenia, Hashimoto thyroiditis, Hepatomegaly, Portal hypertension, Abdominal pain,... OMIM:615688
Wiskott-Aldrich Syndrome
Abnormal delayed hypersensitivity skin test, Iron deficiency anemia, Inflammation of the large in... OMIM:301000
Jessner Lymphocytic Infiltration Of The Skin
Pruritus, Cutaneous photosensitivity, Erythema, Abnormal lymphocyte morphology ORPHA:33314
Immunodeficiency 50
Recurrent respiratory infections, Eczema, Decreased circulating antibody level, Neutropenia, Lymp... OMIM:300988
Ménétrier Disease
Gastrointestinal hemorrhage, Helicobacter pylori infection, Nausea, Anorexia, Poor appetite, Abno... ORPHA:2494
Necrobiosis Lipoidica
Inflammatory abnormality of the skin, Telangiectasia of the skin, Erythema, Skin ulcer, Granuloma... ORPHA:542592
Lichen Planopilaris
Alopecia, Abnormal fingernail morphology, Pruritus, Hepatitis, Skin ulcer, Hyperkeratosis, Abnorm... ORPHA:525
Inflammatory Bowel Disease 28, Autosomal Recessive
Perianal abscess, Enterocolitis, Folliculitis, Pyoderma, Colitis, Crohn's disease OMIM:613148
Liver Disease, Severe Congenital
Chronic gastritis, Dry hair, Cardiomegaly, Biliary hyperplasia, Leukopenia, Vomiting, Protein-los... OMIM:619991
Stevens-Johnson Syndrome
Acute hepatic failure, Abnormality of neutrophils, Conjunctivitis, Cough, Abdominal pain, Restric... ORPHA:36426
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Hepatomegaly, Failure to thrive, Perianal erythema, Impaired T cell function, Short stature, Poor... OMIM:201100
Porphyria Cutanea Tarda
Elevated hepatic transaminase, Recurrent bacterial skin infections, Viral hepatitis, Hepatic stea... ORPHA:101330
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis
Respiratory distress, Hepatomegaly, Osteopenia, Osteomyelitis, Skin rash, Epidermal acanthosis, N... OMIM:612852
Inflammatory Skin And Bowel Disease, Neonatal, 1
Villous atrophy, Perianal erythema, Duodenitis, Pustule, Paronychia, Increased circulating IgE le... OMIM:614328
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Recurrent respiratory infections, Failure to thrive in infancy, Cervical lymphadenopathy, Urticar... OMIM:618987
Recon Progeroid Syndrome
Smooth philtrum, Joint laxity, Dental crowding, Short stature, Progeroid facial appearance, Throm... OMIM:620370
Reynolds Syndrome
Hepatomegaly, Skin rash, Telangiectasia of the skin, Pruritus, Abnormal gastric mucosa morphology... ORPHA:779
Autosomal Agammaglobulinemia
Recurrent respiratory infections, Epicanthus, Sinusitis, Osteomyelitis, Skin rash, Recurrent skin... ORPHA:33110
Ichthyosis, Congenital, Autosomal Recessive 10
Erythroderma OMIM:615024
Immunodeficiency 47
Normocytic anemia, Leukopenia, Hepatic fibrosis, Hepatic steatosis, Accessory spleen, Hepatomegal... OMIM:300972
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma
Alopecia, Sparse eyelashes, Acantholysis, Sparse eyebrow, Palmoplantar scaling skin, Nail dystrop... OMIM:605676
Papa Syndrome
Increased inflammatory response, Myositis, Acne, Pustule, Limitation of joint mobility, Skin ulce... ORPHA:69126
Congenital Ichthyosiform Erythroderma
Alopecia, Short stature, Keratitis, Pruritus, Ichthyosis, Palmoplantar keratoderma, Erythroderma,... ORPHA:79394
Toxic Epidermal Necrolysis
Respiratory distress, Acute hepatic failure, Intestinal perforation, Conjunctivitis, Neutropenia,... ORPHA:537
Bjornstad Syndrome
Alopecia, Brittle hair, Dry hair, Coarse hair, Hair shafts flattened at irregular intervals and t... OMIM:262000
Esophageal Atresia
Respiratory distress, Bronchitis, Polyhydramnios, Feeding difficulties in infancy, Gastrointestin... ORPHA:1199
Immunodeficiency, Common Variable, 14
Psoriasiform dermatitis, Chronic diarrhea, Decreased proportion of class-switched memory B cells,... OMIM:617765
Igg4-Related Ophthalmic Disease
Sinusitis, Cholangitis, Abnormal morphology of bony orbit of skull, Abnormal eyelid morphology, P... ORPHA:449563
Acrodermatitis Enteropathica
Ridged nail, Anorexia, Abnormal eyelid morphology, Poor appetite, Paronychia, Conjunctivitis, Gen... ORPHA:37
Primary Sclerosing Cholangitis
Osteopenia, Acute hepatic failure, Abnormal eosinophil morphology, Spider hemangioma, Uveitis, He... ORPHA:171
Epidermolytic Hyperkeratosis 2
Erythroderma OMIM:620150
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne
Pancytopenia, Acne, Thrombocytosis, Microcytic anemia, Pyoderma gangrenosum, Elbow flexion contra... OMIM:604416
Familial Cold Autoinflammatory Syndrome 2
Skin rash, Abdominal pain, Erythema nodosum, Splenomegaly, Leukocytosis, Lymphadenopathy, Urticar... OMIM:611762
Simple Cryoglobulinemia
Monoclonal elevation of circulating IgA, Abnormal lung morphology, Paraproteinemia, Acral ulcerat... ORPHA:91139
Dubowitz Syndrome
Aplastic anemia, Feeding difficulties in infancy, High palate, Gastroesophageal reflux, Otitis me... OMIM:223370
Indolent Systemic Mastocytosis
Hepatomegaly, Maculopapular exanthema, Skin rash, Pruritus, Splenomegaly, Osteoporosis, Lymphaden... ORPHA:98848
Ichthyosis, Lamellar, Autosomal Dominant
Pruritus, Hyperkeratosis, Congenital nonbullous ichthyosiform erythroderma OMIM:146750
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities
Eosinophilia, Disproportionate short stature, Decreased circulating antibody level, Delayed ossif... OMIM:617425
Nicolaides-Baraitser Syndrome
Joint dislocation, High, narrow palate, Sparse hair, Alopecia, Highly arched eyebrow, Curly eyela... ORPHA:3051
Viss Syndrome
Chronic gastritis, Prominent superficial blood vessels, Polyhydramnios, High, narrow palate, Gene... OMIM:619472
Trichothiodystrophy
Ridged nail, Congenital exfoliative erythroderma, Osteopenia, Brittle hair, Multiple joint contra... ORPHA:33364
Aicardi-Goutieres Syndrome 1
Elevated hepatic transaminase, Hepatomegaly, Short stature, Chilblains, Feeding difficulties in i... OMIM:225750
Adenocarcinoma Of The Esophagus
Nausea and vomiting, Barrett esophagus, Feeding difficulties in infancy, Esophageal carcinoma, Ob... ORPHA:99976
Ataxia-Telangiectasia
Elevated hepatic transaminase, Recurrent respiratory infections, Hypopigmentation of hair, Failur... ORPHA:100
Immunodeficiency 22
Pericarditis, Failure to thrive, Abscess, Thrombocytopenia, Diarrhea, Recurrent upper respiratory... OMIM:615758
Mu-Heavy Chain Disease
Hepatomegaly, Abnormal B cell count, Splenomegaly, Osteoporosis, Osteolysis, Lymphadenopathy, Wei... ORPHA:100024
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
T lymphocytopenia, Cough, Recurrent aspiration pneumonia, Hepatomegaly, Portal hypertension, Hepa... ORPHA:79124
Cystic Fibrosis-Gastritis-Megaloblastic Anemia Syndrome
Recurrent respiratory infections, Telecanthus, Gastritis, Folate-unresponsive megaloblastic anemi... ORPHA:2575
Keratosis Follicularis Spinulosa Decalvans, X-Linked
Sparse eyelashes, Keratitis, Scarring alopecia of scalp, Sparse eyebrow, Facial erythema, Follicu... OMIM:308800
Systemic Lupus Erythematosus 17
Lymphopenia, Alopecia, Autoimmune thrombocytopenia, Thrombocytopenia, Oral ulcer, Leukopenia, Opt... OMIM:301080
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Autoimmune hemolytic anemia, Short stature, Eczema, Autoimmune thrombocytopenia, Celiac disease, ... OMIM:615952
Transgrediens Et Progrediens Palmoplantar Keratoderma
Recurrent bacterial skin infections, Plantar hyperkeratosis, Angular cheilitis, Hyperconvex nail,... ORPHA:495
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Hyperextensibility of the finger joints, Dental crowding, Apnea, Fetal ascites, Synophrys, Deep p... OMIM:619503
Pfapa Syndrome
Nausea and vomiting, Hepatomegaly, Malabsorption, Abdominal pain, Splenomegaly, Recurrent pharyng... ORPHA:42642
Noonan Syndrome 8
Curly hair, Epicanthus, Failure to thrive, Short stature, Eczema, Polyhydramnios, Large for gesta... OMIM:615355
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)
Infertility, Abnormal lymph node morphology OMIM:136580
Lymphoma, Hodgkin, Classic
Impaired lymphocyte transformation with phytohemagglutinin, Polyclonal elevation of IgM OMIM:236000
Congenital Disorder Of Glycosylation, Type Ia
Osteopenia, Villous atrophy, Edema, Feeding difficulties in infancy, Flexion contracture, Vomitin... OMIM:212065
Ectodermal Dysplasia-Syndactyly Syndrome 1
Sparse scalp hair, Alopecia, Sparse eyelashes, Absent facial hair, Hypoplastic toenails, Coarse h... OMIM:613573
Rothmund-Thomson Syndrome Type 1
Osteopenia, Aplastic anemia, Facial edema, Patellar hypoplasia, Facial erythema, Vomiting, Neutro... ORPHA:221008
Epidermodysplasia Verruciformis
Pustule, Recurrent skin infections, Seborrheic dermatitis ORPHA:302
Proteasome-Associated Autoinflammatory Syndrome 3
Elevated hepatic transaminase, Hepatomegaly, Myositis, Sinusitis, Skin rash, Failure to thrive, P... OMIM:617591
Majeed Syndrome
Hepatomegaly, Inflammatory abnormality of the skin, Osteomyelitis, Acne, Increased bone mineral d... ORPHA:77297
Glycoprotein Storage Disease
Splenomegaly, Gout OMIM:232900
Pemphigus Foliaceus
Psoriasiform dermatitis, Abnormal oral mucosa morphology, Acantholysis, Pruritus, Pustule, Crusti... ORPHA:79481
Ectodermal Dysplasia-Skin Fragility Syndrome
Chapped lip, Recurrent skin infections, Abnormal dental morphology, Short stature, Abnormality of... ORPHA:158668
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Intermediate Form
Plantar hyperkeratosis, Abnormality of the dentition, Pruritus, Oral mucosal blisters, Hyperkerat... ORPHA:79399
Lupus Erythematosus Tumidus
Scaling skin ORPHA:90283
Ichthyosis, Congenital, Autosomal Recessive 2
Alopecia, Epidermal acanthosis, Thin nail, Hypergranulosis, Abnormal hair morphology, Erythema, G... OMIM:242100
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hepatomegaly, Skin rash, Edema, Thrombocytopenia, Splenomegaly, Jaundice, Lymphadenopathy, Conjun... OMIM:603552
Cerebral Dysgenesis, Neuropathy, Ichthyosis, And Palmoplantar Keratoderma Syndrome
Palmoplantar keratoderma, Aspiration pneumonia, Ichthyosis, Failure to thrive, Downslanted palpeb... OMIM:609528
Dyskeratosis Congenita, Digenic
Decreased testicular size, Alopecia, Failure to thrive, Sparse eyelashes, Short stature, Abnormal... OMIM:620040
Clouston Syndrome
Alopecia, Brittle hair, Sparse eyelashes, Alopecia totalis, Slow-growing hair, Sparse eyebrow, Ab... OMIM:129500
Hypergonadotropic Hypogonadism And Partial Alopecia
Alopecia OMIM:241090
Waldenström Macroglobulinemia
Normocytic anemia, Abnormality of neutrophils, Anorexia, Periorbital edema, Pedal edema, Pallor, ... ORPHA:33226
Hennekam-Beemer Syndrome
Short stature, Pneumonia, Mastocytosis, Camptodactyly of finger, Pruritus, Thickened skin, Telang... ORPHA:2135
Infantile Digital Fibromatosis
Hyperkeratosis, Parakeratosis, Epidermal acanthosis ORPHA:199267
Igg4-Related Aortitis
Increased inflammatory response, Intestinal obstruction, Increased circulating IgG4 level, Abdomi... ORPHA:449400
White Sponge Nevus 2
Epidermal acanthosis OMIM:615785
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Recurrent respiratory infections, Eosinophilic infiltration of the esophagus, Perianal abscess, L... OMIM:618213
Angiostrongyliasis
Projectile vomiting, Stiff neck, Poor appetite, Increased circulating IgA level, Pruritus, Abdomi... ORPHA:74
Hydroa Vacciniforme
Superficial dermal perivascular inflammatory infiltrate, Hydroa vacciniforme, Eczema, Telangiecta... ORPHA:330058
Eosinophilic Fasciitis
Fasciitis, Abnormal eosinophil morphology, Myositis, Eosinophilia, Edema, Weight loss, Arthritis,... ORPHA:3165
Immunodeficiency 69
Pancytopenia, Skin rash, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Thrombocytosis, Anemia OMIM:618963
Bone Marrow Failure Syndrome 4
Recurrent respiratory infections, Short stature, Eczema, Rhizomelia, Thrombocytopenia, Decreased ... OMIM:618116
Cardiofaciocutaneous Syndrome 1
Osteopenia, Hyperextensibility of the finger joints, Polyhydramnios, Feeding difficulties in infa... OMIM:115150
Odontoonychodermal Dysplasia
Ridged nail, Dry hair, Palmoplantar hyperkeratosis, Conical incisor, Widely spaced primary teeth,... OMIM:257980
Hereditary Acrokeratotic Poikiloderma
Xerostomia, Palmoplantar hyperkeratosis, Gingivitis, Dystrophic fingernails, Short stature, Open ... ORPHA:2907
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive
Elevated hepatic transaminase, Alopecia, Short stature, Ichthyosis, Palmoplantar keratoderma, Con... OMIM:242150
Deafness-Lymphedema-Leukemia Syndrome
Nausea and vomiting, Hepatomegaly, Recurrent respiratory infections, Abnormal neutrophil count, L... ORPHA:3226
Dermatitis, Atopic
Recurrent skin infections, Allergic rhinitis, Eczema, Pruritus, Asthma, Atopic dermatitis, Facial... OMIM:603165
Non-Epidermolytic Palmoplantar Keratoderma
Pruritus, Diffuse palmoplantar hyperkeratosis, Erythema, Skin ulcer ORPHA:2337
Immunodeficiency 96
Conjunctival telangiectasia, Eczema, Increased proportion of gamma-delta T cells, Growth delay, D... OMIM:619774
Hypocomplementemic Urticarial Vasculitis
Joint dislocation, Uveitis, Conjunctivitis, Cough, Emphysema, Hepatomegaly, Abdominal pain, Peric... ORPHA:36412
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
Alopecia, Parakeratosis, Epidermal acanthosis, Congenital hip dislocation, Short stature, Cleft u... OMIM:308050
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant
Alopecia, Sparse eyelashes, Keratitis, Scarring alopecia of scalp, Sparse eyebrow, Carious teeth,... OMIM:612843
Histiocytosis, Familial Lipochrome
Polyarticular arthritis, Increased circulating antibody level, Histiocytosis OMIM:235900
Cortisone Reductase Deficiency 1
Alopecia, Hirsutism OMIM:604931
Macroglobulinemia, Waldenstrom, Susceptibility To, 1
Impaired lymphocyte transformation with phytohemagglutinin, Monoclonal immunoglobulin M proteinem... OMIM:153600
Macrocephaly/Autism Syndrome
Joint laxity, Hepatomegaly, Epicanthus, Large for gestational age, Splenomegaly, Obesity, Decreas... OMIM:605309
Ichthyosis, Congenital, Autosomal Recessive 13
Hyperkeratosis, Hypergranulosis, Palmoplantar hyperkeratosis, Ichthyosis OMIM:617574
Pitt-Hopkins Syndrome
Gastroesophageal reflux, Short philtrum, Acrocyanosis, Hyperventilation, Hiatus hernia, Cryptorch... ORPHA:2896
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features
Parakeratosis, Epidermal acanthosis, Xerostomia, Hyperkeratosis, Ichthyosis, Acanthosis nigricans... OMIM:618527
Secondary Intestinal Lymphangiectasia
Edema, Lymphedema, Intestinal bleeding, Vomiting, Constrictive pericarditis, Abdominal colic, Int... ORPHA:90363
Autoinflammation With Infantile Enterocolitis
Villous atrophy, Pancytopenia, Skin rash, Failure to thrive, Short stature, Reduced natural kille... OMIM:616050
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Abscess, Intermittent thrombocytopenia, Abnormal CD4:CD8 ratio, Splenomegaly, Diarrhea, Recurrent... OMIM:150550
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Respiratory tract inf... ORPHA:444463
Angioma Serpiginosum, X-Linked
Sparse hair, Nail dystrophy, Fine hair OMIM:300652
Moynahan Syndrome
Sparse hair, Alopecia ORPHA:2574
Mental Retardation And Psoriasis
Psoriasiform dermatitis OMIM:309480
Arterial Tortuosity Syndrome
Respiratory distress, Prematurely aged appearance, Redundant skin, Craniosynostosis, Hiatus herni... ORPHA:3342
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type
Synophrys, Decreased circulating total IgM, Decreased circulating IgG level, Hirsutism, Decreased... OMIM:300861
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7
Dental crowding, Poor appetite, Feeding difficulties in infancy, High, narrow palate, Downturned ... ORPHA:96182
Harlequin Ichthyosis
Recurrent respiratory infections, Limitation of joint mobility, Respiratory insufficiency, Dehydr... ORPHA:457
Cryoglobulinemic Vasculitis
Gastrointestinal hemorrhage, Viral hepatitis, Hepatomegaly, Cutis marmorata, Abdominal pain, Circ... ORPHA:91138
Mastocytosis, Cutaneous
Cutaneous mastocytosis, Edema, Erythema, Urticaria, Telangiectasia macularis eruptiva perstans OMIM:154800
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome
Alopecia, Severe short stature, Abnormal dental morphology, Camptodactyly of finger, Urticaria, P... ORPHA:2251
Tracheobronchopathia Osteochondroplastica
Recurrent respiratory infections, Pneumonia, Bronchitis, Productive cough, Atelectasis, Wheezing,... ORPHA:3348
Complement Component 5 Deficiency
Generalized seborrheic dermatitis OMIM:609536
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques
Alopecia, Abnormal fingernail morphology, Abnormal oral mucosa morphology, Abnormality of the den... ORPHA:659
Immunoglobulin A Deficiency 1
Recurrent respiratory infections, Malabsorption, Recurrent infection of the gastrointestinal trac... OMIM:137100
Familial Mediterranean Fever
Acute hepatic failure, Osteoarthritis, Pedal edema, Gastrointestinal infarctions, Abdominal pain,... ORPHA:342
Gaucher Disease, Perinatal Lethal
Respiratory distress, Apnea, Polyhydramnios, Cardiomegaly, Hepatomegaly, Nonimmune hydrops fetali... OMIM:608013
Lymphoproliferative Syndrome 2
Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Recurrent pneumonia, EBV encephalitis,... OMIM:615122
Chronic Recurrent Multifocal Osteomyelitis 3
Palmoplantar pustulosis, Osteomyelitis OMIM:259680
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Increased circul... OMIM:202700
Muckle-Wells Syndrome
Episcleritis, Hepatomegaly, Skin rash, Camptodactyly of finger, Short stature, Abdominal pain, Sp... ORPHA:575
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome
Curly hair, Lactose intolerance, Large for gestational age, Cryptorchidism, Asthma, Wide mouth, D... ORPHA:457485
Epidermolysis Bullosa Simplex With Mottled Pigmentation
Alopecia, Plantar hyperkeratosis, Abnormality of the dentition, Oral mucosal blisters, Cutaneous ... ORPHA:79397
Immunodeficiency 86
Impaired oxidative burst, Decreased circulating IgG level, Increased circulating IgM level OMIM:619549
Crimean-Congo Hemorrhagic Fever
Stiff neck, Anorexia, Increased circulating IgG level, Leukopenia, Conjunctivitis, Cholecystitis,... ORPHA:99827
Sarcoidosis
Increased T cell count, Abnormal lung morphology, Uveitis, Tubulointerstitial nephritis, Leukopen... ORPHA:797
Palmoplantar Keratoderma, Nonepidermolytic, Focal 1
Perioral hyperkeratosis, Palmoplantar keratoderma, Follicular hyperkeratosis, Congenital bullous ... OMIM:613000
Sydenham Chorea
Erythema, Movement abnormality of the tongue, Endocarditis, Septic arthritis, Recurrent streptoco... ORPHA:306731
Poems Syndrome
Sclerosis of hand bone, Edema, Acrocyanosis, Polycythemia, Sclerosis of foot bone, Pericardial ef... ORPHA:2905
Xq28 (MECP2) duplication
Recurrent respiratory infections, Feeding difficulties in infancy, Dysphagia, Constipation, Gastr... DECIPHER:45
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
Pneumonia, Purulent rhinitis, Diarrhea, Arthritis, T lymphocytopenia, Conjunctivitis, B lymphocyt... OMIM:601457
Inflammatory Bowel Disease (Crohn Disease) 30
Gastritis, Duodenitis, Abdominal pain, Chronic diarrhea, Pancolitis, Bloody diarrhea, Vomiting, A... OMIM:619079
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Ileal atresia, Polyhydramnios, Bloody diarrhea, Hypoplasia of the thymus, Psoriasiform dermatitis... OMIM:243150
Osteopetrosis, Autosomal Recessive 2
Pancytopenia, Osteomyelitis, Extramedullary hematopoiesis, Recurrent fractures, Persistence of pr... OMIM:259710
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Edema, Abnormal eyelid morphology, Lymphedema, Scaling skin, Abnormal toenail morphology, Abnorma... ORPHA:2526
Inflammatory Skin And Bowel Disease, Neonatal, 2
Epidermal acanthosis, Polyhydramnios, Pustule, Increased circulating IgE level, Recurrent pneumon... OMIM:616069
Porphyria Cutanea Tarda
Facial hypertrichosis, Alopecia, Onycholysis OMIM:176100
Hypohidrotic Ectodermal Dysplasia-Hypothyroidism-Ciliary Dyskinesia Syndrome
Sparse scalp hair, Alopecia, Sparse eyebrow, Fine hair, Dystrophic fingernails, Dystrophic toenail ORPHA:1882
Epidermolysis Bullosa Simplex 1C, Localized
Hyperkeratosis OMIM:131800
Porokeratosis 3, Multiple Types
Parakeratosis, Porokeratosis, Nail dystrophy OMIM:175900
Hyperkeratosis-Hyperpigmentation Syndrome
Hyperkeratosis, Cutaneous photosensitivity ORPHA:1336
Pressure-Induced Localized Lipoatrophy
Inflammatory abnormality of the skin ORPHA:90160
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1
Osteopenia, Arthropathy, Redundant skin, Seborrheic dermatitis, Patent ductus arteriosus, Erythem... OMIM:259100
Hypotrichosis 8
Ridged nail, Sparse scalp hair, Dry hair, Sparse eyelashes, Sparse axillary hair, Sparse eyebrow,... OMIM:278150
Common Variable Immunodeficiency
Elevated hepatic transaminase, Hemolytic anemia, Recurrent respiratory infections, Failure to thr... ORPHA:1572
Acquired Hypertrichosis Lanuginosa
Abnormal eyebrow morphology, Hypopigmentation of hair, Poor appetite, Abnormal eyelid morphology,... ORPHA:2221
Dyskeratosis Congenita, Autosomal Dominant 2
Pancytopenia, Aplastic anemia, Short stature, Abnormality of the dentition, Esophageal stricture,... OMIM:613989
Chronic Granulomatous Disease
Hepatomegaly, Recurrent respiratory infections, Sinusitis, Liver abscess, Eczema, Abnormality of ... ORPHA:379
Congenital Disorder Of Glycosylation, Type Ig
Respiratory distress, Thin upper lip vermilion, Epicanthus, Failure to thrive, Small for gestatio... OMIM:607143
Igg4-Related Submandibular Gland Disease
Cholangitis, Increased circulating IgG4 level, Eosinophilia, Retroperitoneal fibrosis, Facial ede... ORPHA:449432
Acrokeratosis Verruciformis Of Hopf
Parakeratosis, Epidermal acanthosis, Hypergranulosis, Acantholysis, Punctate palmoplantar hyperke... ORPHA:79151
Ichthyosis-Prematurity Syndrome
Neonatal respiratory distress, Eosinophilia, Ichthyosis ORPHA:88621
Ceroid storage disease
Abnormality of the spleen OMIM:214200
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia
Sparse scalp hair, Alopecia, Abnormal fingernail morphology, Hypoplastic toenails, Fingernail dys... ORPHA:2325
Flynn-Aird Syndrome
Alopecia, Increased bone mineral density, Joint stiffness, Carious teeth, Osteoporosis, Hyperkera... OMIM:136300
Meige Disease
Recurrent bacterial skin infections, Recurrent skin infections, Predominantly lower limb lymphede... ORPHA:90186
Immunodeficiency 75 With Lymphoproliferation
Recurrent respiratory infections, Follicular hyperplasia, Bronchiectasis, Lymphadenopathy, Hepato... OMIM:619126
Adult Idiopathic Neutropenia
Helicobacter pylori infection, Abnormal neutrophil count, Monocytosis, Increased circulating IgM ... ORPHA:2688
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Ichthyosis follicularis, Ectodermal dysplasia, Scaling skin, Atrichia, Periungual erythema, Dystr... OMIM:308205
Occipital Horn Syndrome
Osteopenia, High, narrow palate, Coarse hair, Gastroesophageal reflux, Abnormality of the wrist, ... ORPHA:198
Hemochromatosis, Type 1
Arthropathy, Hepatomegaly, Alopecia, Elevated hepatic transaminase, Hypogonadotropic hypogonadism... OMIM:235200
Schopf-Schulz-Passarge Syndrome
Ridged nail, Narrow nail, Thin nail, Poroma, Multiple eyelid margin cysts, Hyperkeratosis, Ectode... OMIM:224750
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant
T lymphocytopenia, Atopic dermatitis, Pneumonia, Abnormally low T cell receptor excision circle l... OMIM:618806
Wilson Disease
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Abnormality of the menstrual ... ORPHA:905
Visceral Myopathy 2
Necrotizing enterocolitis, Intestinal obstruction, Gastroparesis, Intestinal malrotation, Intesti... OMIM:619350
Oliver-Mcfarlane Syndrome
Sparse hair, Alopecia, Long eyelashes, Long eyebrows OMIM:275400
Ras-Associated Autoimmune Leukoproliferative Disorder
Hemolytic anemia, Pancytopenia, Hepatomegaly, Recurrent respiratory infections, Autoimmune thromb... OMIM:614470
Lipoid Proteinosis
Recurrent respiratory infections, Acne, Abnormal oral mucosa morphology, Pustule, Thickened skin,... ORPHA:530
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Polyhydramnios, Limited elbow movement, T lymphocytopenia, Decreased circulating IgG level, Hepat... ORPHA:508533
Fusariosis
Fasciitis, Sinusitis, Myositis, Abnormality of the spleen, Paronychia, Abnormality of the liver, ... ORPHA:228119
Immunodeficiency 31C
Osteopenia, Villous atrophy, Protein-losing enteropathy, Cough, Recurrent vulvovaginal candidiasi... OMIM:614162
Hennekam Syndrome
Mild postnatal growth retardation, Abnormal oral mucosa morphology, Lymphedema, Hydrops fetalis, ... ORPHA:2136
Elastoderma
Erysipelas, Eczema ORPHA:228240
Eosinophilia, Familial
Recurrent bronchitis, Eosinophilia, Thrombocytopenia, Leukocytosis, Anemia OMIM:131400
Alg12-Cdg
Redundant skin, Edema, Polyhydramnios, Gastroesophageal reflux, Short philtrum, Abnormal bone oss... ORPHA:79324
Classic Hodgkin Lymphoma
Hepatomegaly, Skin rash, Anorexia, Poor appetite, Pruritus, Splenomegaly, Osteolysis, Respiratory... ORPHA:391
Autosomal Erythropoietic Protoporphyria
Eczema, Edema, Microcytic anemia, Pruritus, Erythema, Decreased liver function, Cirrhosis, Cholel... ORPHA:79278
Neutropenia, Chronic Familial
Gingivitis, Periodontitis, Increased circulating antibody level, Neutropenia, Premature loss of t... OMIM:162700
Congenital Lethal Erythroderma
Congenital exfoliative erythroderma ORPHA:1954
Progressive Symmetric Erythrokeratodermia
Erythema, Palmoplantar keratoderma ORPHA:316
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Reduced subcutaneous adipose tissue, Absent eyebrow, Alopecia, Membranoproliferative glomerulonep... OMIM:137940
Keratoderma Hereditarium Mutilans
Alopecia, Hypogonadotropic hypogonadism, Osteolysis, Honeycomb palmoplantar hyperkeratosis, Cleft... ORPHA:494
Autosomal Recessive Palmoplantar Keratoderma And Congenital Alopecia
Nail dystrophy, Alopecia totalis, Lack of skin elasticity ORPHA:1366
Gaucher Disease Type 1
Osteopenia, Anorexia, Osteoarthritis, Pedal edema, Leukopenia, Biliary tract obstruction, Hepatom... ORPHA:77259
Immunodeficiency 89 And Autoimmunity
Pulmonary bulla, Reduced circulating interleukin 17A concentration, Reduced circulating interleuk... OMIM:619632
Agammaglobulinemia 9, Autosomal Recessive
Eczematoid dermatitis, Seborrheic dermatitis OMIM:619693
Primary Sjögren Syndrome
Normocytic anemia, Myositis, Chronic active hepatitis, Bronchitis, Nonproductive cough, Xerostomi... ORPHA:289390
Costello Syndrome
Redundant skin, Polyhydramnios, Hypoplastic toenails, Feeding difficulties in infancy, Gastroesop... ORPHA:3071
Immunodeficiency By Defective Expression Of Mhc Class Ii
Sinusitis, Abnormal CD4:CD8 ratio, Acute otitis media, T lymphocytopenia, Neutropenia, Autoimmune... ORPHA:572
Lymphoproliferative Syndrome 3
Hepatosplenomegaly, Lymphadenopathy, Decreased circulating antibody level, Partial absence of spe... OMIM:618261
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Hepatomegaly, Anorexia, Pruritus, Splenomegaly, Weight loss, Lymphadenopathy ORPHA:86893
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Absent specific antibody response, Recurrent sinopulmonary infections, Decreased proportion of CD... OMIM:619846
Dermatomyositis
Abnormal eosinophil morphology, Edema, Abnormal eyelid morphology, Periorbital edema, Feeding dif... ORPHA:221
Kaposi Sarcoma
Abnormality of the gastrointestinal tract, Generalized lymphadenopathy, Skin rash, Lymphedema, Ab... ORPHA:33276
Fibrodysplasia Ossificans Progressiva
Alopecia, Limitation of joint mobility, Ectopic ossification in ligament tissue, Respiratory insu... ORPHA:337
Loeys-Dietz Syndrome 4
Joint laxity, Protrusio acetabuli, Eosinophilic infiltration of the esophagus, High, narrow palat... OMIM:614816
Thrombocytopenia-Absent Radius Syndrome
Edema of the dorsum of feet, Edema of the dorsum of hands, Genu varum, Short stature, Leukocytosi... OMIM:274000
Immunodeficiency 61
Recurrent respiratory infections, Frequent Giardia lamblia infestation, Decreased circulating IgG... OMIM:300310
Congenital Disorder Of Glycosylation, Type Iib
Hepatomegaly, Hypoventilation, Generalized edema, Recurrent fractures, Elevated circulating aspar... OMIM:606056
Alopecia-Intellectual Disability Syndrome 4
Erythroderma OMIM:618840
Ichthyosis With Alopecia, Eclabium, Ectropion, And Mental Retardation
Alopecia OMIM:242510
Juvenile Temporal Arteritis
Eosinophilia, Leukocytosis, Conjunctivitis, Allergic rhinitis ORPHA:26137
Hypotrichosis 7
Sparse scalp hair, Brittle hair, Sparse eyelashes, Sparse axillary hair, Abnormal sweat gland mor... OMIM:604379
Rothmund-Thomson Syndrome
Osteopenia, Aplastic anemia, Selective tooth agenesis, Facial edema, Nasogastric tube feeding in ... ORPHA:2909
Lymphoproliferative Syndrome 1
Hepatomegaly, Pancytopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Pericardial... OMIM:613011
Deafness, Neural, With Atypical Atopic Dermatitis
Late onset atopic dermatitis OMIM:221700
Monosomy 22
Epicanthus, Aplasia of the thymus, Seborrheic dermatitis, Thickened skin, Synophrys, Hypochromic ... ORPHA:96123
Dermatitis Herpetiformis
Eczema, Edema, Malabsorption, Pruritus, Microcytic anemia, Recurrent fractures, Erythema, Urticar... ORPHA:1656
3-Phosphoserine Phosphatase Deficiency, Infantile/Juvenile Form
Palpebral edema, Postnatal growth retardation, Feeding difficulties, Wide mouth, Gastroesophageal... ORPHA:79350
Immunodeficiency 91 And Hyperinflammation
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Membranoproliferative glomeru... OMIM:619644
Cutaneous Small Vessel Vasculitis
Recurrent skin infections, Skin rash, Cutis marmorata, Erythema, Urticaria, Abnormal oral cavity ... ORPHA:889
Hair Defect With Photosensitivity And Mental Retardation
Brittle hair, Sparse eyelashes, Sparse eyebrow, Coarse hair, Sparse hair OMIM:234030
Blau Syndrome
Xerostomia, Abnormality of the liver, Posterior uveitis, Abnormal salivary gland morphology, Retr... ORPHA:90340
Cutaneous Photosensitivity And Colitis, Lethal
Early cutaneous photosensitivity, Erythema, Colitis, Diarrhea OMIM:219095
Q Fever
Respiratory distress, Anorexia, Abnormality of the liver, Cholecystitis, Cough, Infectious enceph... ORPHA:781
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome
Gastrointestinal hemorrhage, Hepatomegaly, Nausea and vomiting, Abnormal large intestine morpholo... ORPHA:2198
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
T lymphocytopenia, Decreased circulating IgG level OMIM:242870
Hereditary Palmoplantar Keratoderma, Gamborg-Nielsen Type
Hyperkeratosis with erythema, Diffuse palmoplantar hyperkeratosis ORPHA:86923
Pityriasis Rubra Pilaris
Subungual hyperkeratosis, Parakeratosis, Hypergranulosis, Palmoplantar keratoderma, Orthokeratosi... OMIM:173200
Persistent Polyclonal B-Cell Lymphocytosis
Splenomegaly, Decreased circulating total IgM, Lymphocytosis, Hepatomegaly OMIM:606445
Palmoplantar Keratoderma-Deafness Syndrome
Hyperkeratosis, Palmoplantar keratoderma ORPHA:2202
Palmoplantar Keratoderma, Punctate Type Iii
Hyperkeratosis, Acrokeratosis OMIM:101850
Chime Syndrome
Epicanthus, Abnormal dental morphology, Abnormality of the dentition, Supernumerary tooth, Erythe... ORPHA:3474
Infantile Cataract, Skin Abnormalities, Glutamate Excess, And Impaired Intellectual Development
Hyperkeratosis, Parakeratosis OMIM:618339
Chronic Graft Versus Host Disease
Fasciitis, Anorexia, Flexion contracture, Xerostomia, Gastroesophageal reflux, Cough, Skin vesicl... ORPHA:99921
Dermatoleukodystrophy
Hyperkeratosis, Thickened skin ORPHA:1659
Wiskott-Aldrich Syndrome
Sinusitis, Abnormal eosinophil morphology, Microcytic anemia, Inflammation of the large intestine... ORPHA:906
Congenital Bile Acid Synthesis Defect Type 2
Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Extramedullary hematopoiesis, ... ORPHA:79303
Immunodeficiency With Hyper-Igm, Type 4
Autoimmune hemolytic anemia, Osteomyelitis, Impaired Ig class switch recombination, Autoimmune th... OMIM:608184
Loeys-Dietz Syndrome 5
Reduced subcutaneous adipose tissue, Tented upper lip vermilion, Failure to thrive in infancy, Cl... OMIM:615582
Immunodeficiency 95
Respiratory distress, Recurrent respiratory infections, Decreased circulating IgG3 level, Recurre... OMIM:619773
Dowling-Degos Disease 2
Hyperkeratotic papule, Follicular hyperkeratosis OMIM:615327
Kawasaki Disease
Abnormality of nail color, Edema, Conjunctivitis, Cholecystitis, Abdominal pain, Recurrent pharyn... ORPHA:2331
Reticulate Acropigmentation Of Kitamura
Hyperkeratosis OMIM:615537
Hypohidrotic Ectodermal Dysplasia
Sinusitis, Xerostomia, Cough, Generalized hypopigmentation of hair, Abnormality of the nail, Abno... ORPHA:238468
Lipoid Proteinosis Of Urbach And Wiethe
Hyperkeratosis, Patchy alopecia, Reduced epidermal extracellular matrix protein 1 protein express... OMIM:247100
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency
Lymphadenopathy ORPHA:319600
Erythrokeratoderma ''En Cocardes''
Hyperkeratosis ORPHA:315
Xeroderma Pigmentosum
Conjunctival telangiectasia, Ankyloblepharon, Pterygium, Alopecia, Short stature, Thickened skin,... ORPHA:910
Localized Dystrophic Epidermolysis Bullosa, Pretibial Form
Abnormal fingernail morphology, Oral mucosal blisters, Pruritus, Carious teeth, Gastrointestinal ... ORPHA:79410
Combined Immunodeficiency, X-Linked
Sinusitis, Pneumonia, Decreased proportion of CD8-positive T cells, Otitis media, Decreased propo... OMIM:312863
Agammaglobulinemia 5, Autosomal Dominant
Agammaglobulinemia, Epicanthus, High palate OMIM:613506
Hepatoportal Sclerosis
Gastrointestinal hemorrhage, Elevated hepatic transaminase, Portal hypertension, Nodular regenera... ORPHA:64743
22Q11.2 Deletion Syndrome
Impaired T cell function, Polyhydramnios, Abnormal eyelid morphology, Feeding difficulties in inf... ORPHA:567
Tylosis With Esophageal Cancer
Parakeratosis, Diffuse palmoplantar hyperkeratosis, Esophageal carcinoma, Follicular hyperkeratos... OMIM:148500
Ichthyosis Hystrix, Lambert Type
Hyperkeratosis, Orthokeratotic hyperkeratosis OMIM:146600
Cerebroretinal Microangiopathy With Calcifications And Cysts 2
Gastrointestinal hemorrhage, Osteopenia, Pancytopenia, Portal hypertension, Retinal telangiectasi... OMIM:617341
Osteopetrosis, Autosomal Recessive 5
Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Increased bone mineral density, Short s... OMIM:259720
Dracunculiasis
Pruritus, Recurrent cutaneous abscess formation, Skin rash, Arthritis ORPHA:231
Alpha-Mannosidosis
Hepatomegaly, Recurrent respiratory infections, Open bite, Splenomegaly, Dental malocclusion, Gin... ORPHA:61
Ataxia-Pancytopenia Syndrome
Recurrent respiratory infections, Pancytopenia, Abnormal macrophage morphology, Abnormality of ne... ORPHA:2585
Chikungunya
Facial edema, Pedal edema, Enthesitis, Vomiting, Skin vesicle, Stiff interphalangeal joints, Infe... ORPHA:324625
Immunodeficiency 62
Autoimmune thrombocytopenia, Decreased proportion of memory B cells, Recurrent upper respiratory ... OMIM:618459
Cinca Syndrome
Joint dislocation, Hepatomegaly, Nausea and vomiting, Abnormality of neutrophils, Edema, Delayed ... ORPHA:1451
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Agammaglobulinemia, Lymphopenia, Hypoplasia of the thymus OMIM:200900
T-Cell Immunodeficiency With Thymic Aplasia
Recurrent infection of the gastrointestinal tract, Failure to thrive, Sinusitis, Decreased propor... ORPHA:83471
Mevalonic Aciduria
Elevated hepatic transaminase, Normocytic hypoplastic anemia, Failure to thrive, Skin rash, Failu... OMIM:610377
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Sideroblastic anemia, Extramedullary hematopoiesis, Small for gestational age, Nonimmune hydrops ... OMIM:617021
Pellagra-Like Syndrome
Skin rash OMIM:260650
Hereditary Hyperekplexia
Joint dislocation, Joint stiffness, Hiatus hernia, Hip dislocation, Gastroesophageal reflux, Esop... ORPHA:3197
Leopard Syndrome 3
Curly hair, Short stature, Epidermal hyperkeratosis, Cubitus valgus, Low posterior hairline, Grow... OMIM:613707
Epidermolysis Bullosa Dystrophica, Pretibial
Pruritus, Hyperkeratosis, Nail dystrophy OMIM:131850
Isolated Congenital Hypoglossia/Aglossia
Respiratory distress, Dyspnea, Nasogastric tube feeding in infancy, Upper airway obstruction, Cle... ORPHA:141152
Nodular Non-Suppurative Panniculitis
Nausea and vomiting, Hepatomegaly, Edema, Abdominal pain, Splenomegaly, Erythema, Weight loss, Pa... ORPHA:33577
Generalized Pustular Psoriasis
Elevated hepatic transaminase, Pustule, Overweight, Leukocytosis, Cheilitis, Uveitis, Obesity, Pe... ORPHA:247353
Elastosis Perforans Serpiginosa
Hyperkeratotic papule, Crusting erythematous dermatitis, Epidermal acanthosis, Cutis laxa ORPHA:79148
Juvenile Dermatomyositis
Myositis, Cough, Alopecia, Abdominal pain, Skin ulcer, Restrictive ventilatory defect, Constipati... ORPHA:93672
Mal De Meleda
Congenital symmetrical palmoplantar keratosis, Fragile nails, Perioral erythema, Ichthyosis OMIM:248300
Agammaglobulinemia 3, Autosomal Recessive
Diarrhea, Abnormal T cell morphology, Agammaglobulinemia, Absent isohemagglutinin level, Absent c... OMIM:613501
Sandifer Syndrome
Hiatus hernia, Hematemesis, Feeding difficulties, Gastroesophageal reflux, Esophagitis, Episodic ... ORPHA:71272
Immunodeficiency 46
Chronic oral candidiasis, Recurrent sinopulmonary infections, Chronic diarrhea, Neutropenia, Decr... OMIM:616740
Primary Ciliary Dyskinesia
Asplenia, Chronic otitis media, Abnormal sperm motility, Male infertility, Neonatal respiratory d... ORPHA:244
Werner Syndrome
Abnormal hair whorl, Premature graying of hair, Increased bone mineral density, Short stature, Pr... ORPHA:902
Proteasome-Associated Autoinflammatory Syndrome 4
Hepatomegaly, Myositis, Autoimmune hemolytic anemia, Edema, Splenomegaly, Erythema, Flexion contr... OMIM:619183
T-Cell Immunodeficiency With Thymic Aplasia
Lymphopenia, Failure to thrive, Aplasia of the thymus, Recurrent bronchopulmonary infections, Rec... OMIM:242700
Deafness, Sensorineural, With Peripheral Neuropathy And Arterial Disease
Skin rash OMIM:124950
Acute Promyelocytic Leukemia
Anorexia, Leukopenia, Neutropenia, Ecchymosis, Abdominal pain, Leukocytosis, Gingival overgrowth,... ORPHA:520
Zinc Deficiency, Transient Neonatal
Alopecia OMIM:608118
Lymphangiectasia, Intestinal
Decreased circulating IgG level, Edema, Malabsorption, Abnormal hair morphology, Pedal edema, Int... OMIM:152800
Ichthyosis, Congenital, Autosomal Recessive 9
Eclabion, Epidermal acanthosis, Hypergranulosis, Hyperkeratosis, Congenital nonbullous ichthyosif... OMIM:615023
Porokeratosis 7, Multiple Types
Parakeratosis, Porokeratosis OMIM:614714
Porokeratosis 1, Multiple Types
Parakeratosis, Porokeratosis OMIM:175800
Cushing Syndrome Due To Ectopic Acth Secretion
Malignant gastrointestinal tract tumors, Plethora, Neoplasm of the stomach, Pancreatoblastoma, An... ORPHA:99889
Granulomatous Slack Skin
Abnormal lymph node morphology, Erythema, Redundant skin, Cutis laxa ORPHA:33111
Primary Erythromelalgia
Pruritus, Recurrent respiratory infections, Leukemia, Erythema ORPHA:90026
Interstitial Granulomatous Dermatitis With Arthritis
Pruritus, Inflammatory abnormality of the skin, Rheumatoid arthritis ORPHA:79099
Restrictive Dermopathy
Osteopenia, Multiple joint contractures, Polyhydramnios, Scaling skin, Sparse hair, Decreased sku... ORPHA:1662
Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis
Hepatomegaly, Alopecia, Sparse eyelashes, Sparse eyebrow, Growth delay, Restrictive ventilatory d... OMIM:615704
Infantile Sialic Acid Storage Disease
Osteopenia, Hepatomegaly, Epicanthus, Failure to thrive, Cardiomegaly, Splenomegaly, Vacuolated l... OMIM:269920
Majeed Syndrome
Inflammatory abnormality of the skin, Osteomyelitis, Skin rash, Anemia of inadequate production, ... OMIM:609628
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Impaired lymphocyte transformation with phytohemagglutinin, Intestinal obstruction, Absent natura... OMIM:600802
Autoimmune Hepatitis
Spider hemangioma, Fulminant hepatitis, Increased circulating IgG level, Inflammation of the larg... ORPHA:2137
Systemic Sclerosis
Flexion contracture, Intestinal bleeding, Gastroesophageal reflux, Acral ulceration, Abnormal sma... ORPHA:90291
Protoporphyria, Erythropoietic, 1
Hemolytic anemia, Eczema, Edema, Pruritus, Erythema, Cholelithiasis, Hepatic failure OMIM:177000
Immunodeficiency 88
Asthma, Eosinophilia OMIM:619630
Immunoerythromyeloid Hypoplasia
Erythroid hypoplasia, Decreased circulating IgG level OMIM:242880
Immunodeficiency 40
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Rectal fistula, Resp... OMIM:616433
Dyskeratosis Congenita, Autosomal Recessive 1
Sparse scalp hair, Pancytopenia, Sparse eyelashes, Aplastic anemia, Carious teeth, Esophageal str... OMIM:224230
Subacute Cutaneous Lupus Erythematosus
Psoriasiform lesion, Discoid lupus rash, Cheilitis, Hyperkeratosis, Cutaneous photosensitivity, V... ORPHA:163525
Immunodeficiency 38 With Basal Ganglia Calcification
Lymphadenopathy OMIM:616126
Burkitt Lymphoma
Gastrointestinal hemorrhage, Nausea and vomiting, Intestinal obstruction, Abdominal pain, Abnorma... ORPHA:543
Hyperkeratosis Lenticularis Perstans
Hyperkeratosis lenticularis perstans OMIM:144150
Ramon Syndrome
Delayed eruption of teeth, Telangiectasia of the skin, Abnormal dental enamel morphology, Gingiva... ORPHA:3019
Angioma Serpiginosum, Autosomal Dominant
Hyperkeratosis OMIM:106050
Papillomatosis, Confluent And Reticulated
Hyperkeratosis OMIM:167900
Vohwinkel Syndrome, Variant Form
Parakeratosis, Hypergranulosis, Honeycomb palmoplantar hyperkeratosis, Hyperkeratosis, Orthokerat... OMIM:604117
Vici Syndrome
Albinism, Leukopenia, T lymphocytopenia, Abnormal thymus morphology, High palate, Neutropenia, De... OMIM:242840
De Sanctis-Cacchione Syndrome
Parakeratosis, Entropion, Severe short stature, Keratitis, Bilateral cryptorchidism, Telangiectas... OMIM:278800
Porphyria Cutanea Tarda, Type I
Eczema OMIM:176090
Tarp Syndrome
Failure to thrive, Extramedullary hematopoiesis, Apnea, Cyanosis, Abnormal hair pattern, Cryptorc... ORPHA:2886
Immunodeficiency 84
Perianal abscess, Splenomegaly, B lymphocytopenia OMIM:619437
Hypotrichosis 13
Sparse hair, Woolly hair, Sparse eyelashes, Abnormal sweat gland morphology OMIM:615896
Lead Poisoning
Anorexia, Abnormal T cell morphology, Tubulointerstitial nephritis, Vomiting, Decreased male libi... ORPHA:330015
Cholesteryl Ester Storage Disease
Nausea and vomiting, Hepatomegaly, Pruritus, Splenomegaly, Diarrhea, Jaundice, Esophageal varix, ... ORPHA:75234
Chilblain Lupus 1
Chilblains OMIM:610448
Osteopetrosis, Autosomal Recessive 7
Hepatomegaly, Splenomegaly, Recurrent pneumonia, Growth delay, Decreased circulating total IgM, O... OMIM:612301
Dyskeratosis Congenita, Autosomal Dominant 3
Alopecia, Pancytopenia, Aplastic anemia, Short stature, Cryptorchidism, Osteoporosis, Fine hair, ... OMIM:613990
Maculopapular Cutaneous Mastocytosis
Abdominal pain, Pruritus, Dyspnea, Diarrhea, Erythema, Darier's sign, Dermatographic urticaria, V... ORPHA:79457
Purine Nucleoside Phosphorylase Deficiency
Autoimmune hemolytic anemia, Sinusitis, Failure to thrive, Pneumonia, Impaired T cell function, P... OMIM:613179
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Autoimmune hemolytic anemia, Glomerulonephritis, Pneumonia, Plasmacytosis, Increased circulating ... OMIM:247800
Igg4-Related Dacryoadenitis And Sialadenitis
Myositis, Facial edema, Xerostomia, Tubulointerstitial nephritis, Abnormal salivary gland morphol... ORPHA:79078
Hereditary Mucoepithelial Dysplasia
Recurrent respiratory infections, Alopecia, Anorectal anomaly, Tracheoesophageal fistula, Gingiva... ORPHA:1839
Dyskeratosis Congenita, Autosomal Recessive 5
Esophageal stenosis, Postnatal growth retardation, Decreased circulating antibody level, Leukopen... OMIM:615190
Deafness, Autosomal Dominant 34, With Or Without Inflammation
Urticaria, Arthritis, Conjunctivitis, Lymphadenopathy OMIM:617772
Pulmonary Blastoma
Pleuropulmonary blastoma, Dyspnea, Recurrent pneumonia, Weight loss, Cough ORPHA:64741
Immunodeficiency 98 With Autoinflammation, X-Linked
Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Neutropenia, Lymphadenopathy, Growth del... OMIM:301078
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Macrocytic anemia, Pancytopenia, Thrombocytosis, Eczema, Anemia of inadequate production, Megalob... OMIM:617780
Gamma-A-Globulin, Defect In Assembly Of
Recurrent respiratory infections, Decreased circulating IgA level OMIM:137050
Familial Cold Urticaria
Nausea and vomiting, Abdominal pain, Pruritus, Erythema, Dehydration, Urticaria, Arthritis, Conju... ORPHA:47045
Immunodeficiency 15B
Failure to thrive, Chronic diarrhea, Decreased circulating antibody level, Agammaglobulinemia, Mo... OMIM:615592
Cardiofaciocutaneous Syndrome
Brittle hair, Redundant skin, Lymphedema, Feeding difficulties in infancy, Webbed neck, High pala... ORPHA:1340
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4
Agammaglobulinemia, Epicanthus, Decreased circulating antibody level OMIM:616911
Congenital Disorder Of Glycosylation, Type Iic
Neutrophilia, Short stature, Pneumonia, Widow's peak, Bronchiolitis, Periodontitis, Reduction of ... OMIM:266265
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To
Acute myeloid leukemia, Refractory anemia, Eczema, Leukopenia, Monocytosis, Bone marrow hypocellu... OMIM:616871
Primary Biliary Cholangitis
Portal hypertension, Increased circulating IgA level, Pruritus, Celiac disease, Jaundice, Abdomin... ORPHA:186
Epidermodysplasia Verruciformis, Susceptibility To, 3
Epidermal acanthosis OMIM:618267
Dowling-Degos Disease
Abnormal fingernail morphology, Pruritus, Arthritis, Hyperkeratosis, Anal margin squamous cell ca... ORPHA:79145
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Abnormal eyelid morphology, Uveitis, Hyperconvex fingernails, Conjunctivitis, Sparse hair, Abnorm... ORPHA:2273
Hypotrichosis 14
Sparse pubic hair, Short eyelashes, Absent axillary hair, Sparse hair, Sparse body hair OMIM:618275
Palmoplantar Keratoderma, Epidermolytic, 1
Plantar hyperkeratosis, Increased circulating IgE level, Palmoplantar hyperkeratosis, Palmar hype... OMIM:144200
Diffuse Gastric And Lobular Breast Cancer Syndrome
Stomach cancer, Atrophic gastritis, Cleft palate, Cleft upper lip OMIM:137215
Lassa Fever
Nausea and vomiting, Menometrorrhagia, Abdominal pain, Cough, Dyspnea, Diarrhea, Jaundice, Facial... ORPHA:99824
Gastroesophageal Reflux
Esophageal neoplasm, Barrett esophagus, Gastroesophageal reflux, Esophagitis OMIM:109350
Late-Onset Isolated Acth Deficiency
Normocytic anemia, Nausea and vomiting, Macrocytic anemia, Failure to thrive, Premature ovarian i... ORPHA:199299
Shigellosis
Anorexia, Intestinal perforation, Uveitis, Bloody diarrhea, Paralytic ileus, Dehydration, Conjunc... ORPHA:810
Copper Deficiency, Familial Benign
Seborrheic dermatitis OMIM:121270
Galactose Epimerase Deficiency
Nausea and vomiting, Hepatomegaly, Splenomegaly, Jaundice, Weight loss, Growth delay, Feeding dif... ORPHA:79238
Epidermolytic Palmoplantar Keratoderma
Epidermal acanthosis, Abnormal fingernail morphology, Hypergranulosis, Epidermal hyperkeratosis, ... ORPHA:2199
Microscopic Polyangiitis
Episcleritis, Increased inflammatory response, Pericarditis, Sinusitis, Skin rash, Gastrointestin... ORPHA:727
Immunodeficiency 12
Skin rash, Decreased lymphocyte proliferation in response to anti-CD3, Abnormal lymphocyte count,... OMIM:615468
Chondrodysplasia Punctata 2, X-Linked Dominant
Sparse eyelashes, Rhizomelia, Edema, Polyhydramnios, Sparse eyebrow, Postnatal growth retardation... OMIM:302960
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis
Delayed eruption of teeth, Hepatomegaly, Limb joint contracture, Short stature, Seborrheic dermat... OMIM:301072
Junctional Epidermolysis Bullosa Inversa
Oral mucosal blisters, Carious teeth, Gastrointestinal inflammation, Growth delay, Palmoplantar k... ORPHA:79405
Pleural Mesothelioma
Respiratory distress, Hepatomegaly, Abnormal pleura morphology, Cough, Dyspnea, Abnormal lung mor... ORPHA:50251
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome
Joint laxity, Recurrent respiratory infections, Multiple joint contractures, Respiratory insuffic... ORPHA:486815
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome
Small for gestational age, Short stature, Macronodular cirrhosis, Abnormal T cell morphology, Gen... OMIM:215250
Hemihyperplasia-Multiple Lipomatosis Syndrome
Telangiectasia of the skin, Seborrheic dermatitis, Hyperparakeratosis, Abnormality of the lymphat... ORPHA:276280
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Hepatomegaly, Recurrent respiratory infections, Glomerulonephritis, Decreased proportion of margi... OMIM:619375
Hemochromatosis, Type 2A
Hepatomegaly, Hypogonadotropic hypogonadism, Splenomegaly, Arthritis, Azoospermia, Infertility, C... OMIM:602390
Biotinidase Deficiency
Hepatomegaly, Alopecia, Skin rash, Recurrent skin infections, Apnea, Seborrheic dermatitis, Feedi... OMIM:253260
Wells Syndrome
Pruritus, Skin vesicle, Eosinophilia, Edema ORPHA:901
Monosomy 18Q
Epicanthus, Slender build, Short stature, Bilateral cryptorchidism, Patent ductus arteriosus, Low... ORPHA:1600
Dyskeratosis Congenita, Autosomal Dominant 1
Ridged nail, Aplastic anemia, Hepatic necrosis, Premature graying of hair, Leukopenia, Sparse hai... OMIM:127550
Snakebite Envenomation
Epistaxis, Edema, Diarrhea, Erythema, Neuromuscular dysphagia, Angioedema, Pseudobulbar paralysis... ORPHA:449285
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2
Acne, Seborrheic dermatitis OMIM:614441
Huriez Syndrome
Epidermal acanthosis, Nail dystrophy, Small nail OMIM:181600
Reticuloendotheliosis, X-Linked
Hepatosplenomegaly, Jaundice, Anemia, Lymphadenopathy OMIM:312500
Congenital Atransferrinemia
Arthritis, Anemia, Abnormality of the pancreas ORPHA:1195
Giant Cell Arteritis
Alopecia, Pericarditis, Epistaxis, Abnormal pleura morphology, Joint stiffness, Anorexia, Mediast... ORPHA:397
Self-Improving Dystrophic Epidermolysis Bullosa
Oral mucosal blisters, Carious teeth, Abnormality of the subungual region, Gastrointestinal infla... ORPHA:79411
Pseudoprogeria Syndrome
Absent eyebrow, Alopecia, Absent eyelashes, Sparse eyebrow, Sparse hair ORPHA:2985
Whipple Disease
Myositis, Anorexia, Uveitis, Pedal edema, Cough, Infectious encephalitis, Hepatomegaly, Abdominal... ORPHA:3452
Macs Syndrome
Irregular dentition, Redundant skin, High palate, Sparse hair, Decreased body weight, Joint laxit... OMIM:613075
Amyloidosis, Familial Visceral
Splenomegaly, Hepatomegaly, Skin rash, Cholestasis OMIM:105200
Inflammatory Bowel Disease 25, Autosomal Recessive
Perianal abscess, Pancolitis, Folliculitis, Enterocolitis OMIM:612567
Good Syndrome
Abnormal leukocyte morphology, Recurrent respiratory infections, Sinusitis, Recurrent skin infect... ORPHA:169105
Cholestasis-Lymphedema Syndrome
Hepatomegaly, Splenomegaly, Jaundice, Cirrhosis, Erysipelas, Neonatal cholestatic liver disease OMIM:214900
Farber Lipogranulomatosis
Osteolysis involving bones of the feet, Hepatomegaly, Hyperextensibility of the finger joints, Ul... OMIM:228000
Congenital Bile Acid Synthesis Defect Type 1
Gastrointestinal hemorrhage, Hepatomegaly, Elevated hepatic transaminase, Malabsorption, Pruritus... ORPHA:79301
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome
Sparse hair, Alopecia, Long eyelashes ORPHA:3363
Hajdu-Cheney Syndrome
Osteopenia, Synophrys, Low anterior hairline, Downturned corners of mouth, Coarse hair, Periodont... ORPHA:955
Congenital Toxoplasmosis
Elevated hepatic transaminase, Hepatomegaly, Failure to thrive in infancy, Cardiomegaly, Diarrhea... ORPHA:858
Free Sialic Acid Storage Disease
Hepatomegaly, Recurrent respiratory infections, Failure to thrive in infancy, Splenomegaly, Hydro... ORPHA:834
Osteochondrosis Of The Tarsal Bone
Pedal edema, Arthritis, Tarsal sclerosis, Tarsal stippling, Chondritis, Abnormal tarsal ossificat... ORPHA:563991
Hermansky-Pudlak Syndrome 2
Fair hair, Albinism, Periodontitis, Gastroesophageal reflux, Neutropenia, Hepatomegaly, Hepatospl... OMIM:608233
Restrictive Dermopathy 1
Prominent superficial blood vessels, Polyhydramnios, Flexion contracture, Scaling skin, Absent ey... OMIM:275210
Syndromic Recessive X-Linked Ichthyosis
Short stature, Abnormal stomach morphology, Cryptorchidism, Acute leukemia, Hyperkeratosis, Hypog... ORPHA:281090
Gm1 Gangliosidosis
Hydrops fetalis, Gastroesophageal reflux, Aspiration pneumonia, Infectious encephalitis, Generali... ORPHA:354
Aicardi-Goutieres Syndrome 3
Chilblains, Thrombocytopenia, Hepatosplenomegaly OMIM:610329
Congenital Disorder Of Glycosylation, Type Iir
Decreased proportion of CD4-positive T cells, Hepatomegaly, Elevated hepatic transaminase, Jaundi... OMIM:301045
Cholesteryl Ester Storage Disease
Acute hepatic failure, Bone-marrow foam cells, Leukopenia, Vomiting, Hepatic fibrosis, Hepatic st... OMIM:278000
Late-Onset Junctional Epidermolysis Bullosa
Oral mucosal blisters, Carious teeth, Gastrointestinal inflammation, Growth delay, Palmoplantar k... ORPHA:79406
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Pancytopenia, Decreased helper T cell proportion, Hypersplenism, Splenomegaly, Cutaneous anergy OMIM:183350
Periodic Fever, Familial, Autosomal Dominant
Gastrointestinal hemorrhage, Hepatomegaly, Myositis, Skin rash, Maculopapular exanthema, Abdomina... OMIM:142680
Rapp-Hodgkin Syndrome
Conical tooth, Anhidrotic ectodermal dysplasia, Sparse hair, Microdontia, Bifid uvula, Short stat... OMIM:129400
Hereditary Sensory And Autonomic Neuropathy Type 1
Osteomyelitis, Neuropathic arthropathy, Poor wound healing, Penetrating foot ulcers, Skin ulcer, ... ORPHA:36386
Idiopathic Trachyonychia
Ridged nail, Thin nail, Autoimmune thrombocytopenia, Concave nail, Atopic dermatitis, Nail pits, ... ORPHA:79153
Erythrokeratodermia Variabilis Et Progressiva 3
Erythema, Epidermal acanthosis, Leukonychia OMIM:617525
Aicardi-Goutieres Syndrome 6
Hemolytic anemia, Hepatomegaly, Chilblains, Splenomegaly, Feeding difficulties, Intrauterine grow... OMIM:615010
Beta-Thalassemia
Hepatomegaly, Hypogonadotropic hypogonadism, Abnormal hemoglobin, Microcytic anemia, Thrombocytop... ORPHA:848
Sialidosis Type 1
Short stature, Splenomegaly, Thick lower lip vermilion, Hyperkeratosis, Vascular skin abnormality ORPHA:812
Letterer-Siwe Disease
Seborrheic dermatitis, Thrombocytopenia, Jaundice, Dyspnea, Abdominal distention, Hepatosplenomeg... OMIM:246400
Congenital Disorder Of Glycosylation, Type Im
Alopecia, Inflammatory abnormality of the skin, Sparse eyelashes, Failure to thrive, Sparse eyebr... OMIM:610768
Agammaglobulinemia 7, Autosomal Recessive
Recurrent respiratory infections, Erythema nodosum, Agammaglobulinemia, Neutropenia, Reduced natu... OMIM:615214
Transcobalamin Ii Deficiency
Hepatomegaly, Macrocytic anemia, Pancytopenia, Failure to thrive, Erythroid hypoplasia, Diarrhea,... OMIM:275350
Ichthyosis, Congenital, Autosomal Recessive 11
Curly hair, Brittle hair, Sparse eyelashes, Curly eyelashes, Pruritus, Sparse eyebrow, Hyperkerat... OMIM:602400
Keratosis Pilaris Atrophicans
Absent eyelashes, Erythema, Sparse eyebrow OMIM:604093
Immunodeficiency 59 And Hypoglycemia
Hepatomegaly, Complete or near-complete absence of specific antibody response to unconjugated pne... OMIM:233600
Myeloproliferative Disorder, Chronic, With Eosinophilia
Eosinophilia, Myeloproliferative disorder OMIM:131440
Portal Hypertension, Noncirrhotic, 2
Elevated hepatic transaminase, Hepatomegaly, Epistaxis, Portal hypertension, Nodular regenerative... OMIM:619463
Rift Valley Fever
Elevated hepatic transaminase, Skin rash, Anorexia, Hematemesis, Thrombocytopenia, Jaundice, Hepa... ORPHA:319251
Atelis Syndrome 1
Decreased lymphocyte proliferation in response to anti-CD3, Eczema, Carious teeth, Thrombocytopen... OMIM:620184
Sabinas Brittle Hair Syndrome
Dry hair, Brittle hair, Nail dystrophy, Nail dysplasia, Sparse hair OMIM:211390
Juvenile Arthritis
Thrombocytosis, Leukocytosis, Skin rash OMIM:618795
Hereditary Amyloidosis With Primary Renal Involvement
Intestinal perforation, Tubulointerstitial nephritis, Vomiting, Gastroesophageal reflux, Nausea, ... ORPHA:85450
Maternal Uniparental Disomy Of Chromosome 1
Hepatomegaly, Pancytopenia, Short stature, Delayed closure of the anterior fontanelle, Feeding di... ORPHA:251009
Pyoderma Gangrenosum
Myositis, Pustule, Skin ulcer, Inflammation of the large intestine, Increased circulating antibod... ORPHA:48104
American Trypanosomiasis
Hepatomegaly, Skin rash, Aganglionic megacolon, Edema, Abdominal pain, Periorbital edema, Myocard... ORPHA:3386
Idiopathic Achalasia
Bronchitis, Wheezing, Malnutrition, Dysphagia, Weight loss, Gastroesophageal reflux, Cough, Recur... ORPHA:930
Axonal Polyneuropathy Associated With Igg/Igm/Iga Monoclonal Gammopathy
Cryoglobulinemia, Monoclonal immunoglobulin M proteinemia ORPHA:209004
Hemochromatosis, Type 3
Elevated hepatic transaminase, Hypogonadotropic hypogonadism, Amenorrhea, Arthritis, Impotence, C... OMIM:604250
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked
Increased circulating interleukin 8 concentration, Failure to thrive in infancy, Cutis marmorata,... OMIM:301220
Pseudomyxoma Peritonei
Abnormal peritoneum morphology, Nausea and vomiting, Intestinal obstruction, Abdominal pain, Resp... ORPHA:26790
Niemann-Pick Disease, Type A
Hepatomegaly, Recurrent respiratory infections, Failure to thrive, Short stature, Elevated circul... OMIM:257200
Eosinophilopenia
Decreased eosinophil count, Urticaria, Allergic rhinitis OMIM:131430
Neonatal Inflammatory Skin And Bowel Disease
Recurrent bacterial skin infections, Chapped lip, Psoriasiform dermatitis, Anal fissure, Pustule,... ORPHA:294023
Pachyonychia Congenita
Respiratory distress, Natal tooth, Alopecia, Angular cheilitis, Paronychia, Onychogryposis of toe... ORPHA:2309
Autoinflammatory-Pancytopenia Syndrome
Arthropathy, Pancytopenia, Membranoproliferative glomerulonephritis, Intestinal inflammation, Chi... OMIM:619858
Neutropenia, Lethal Congenital, With Eosinophilia
Eosinophilia, Neutropenia OMIM:257100
Zollinger-Ellison Syndrome
Gastrointestinal hemorrhage, Intestinal obstruction, Duodenal ulcer, Peptic ulcer, Diarrhea, Eryt... ORPHA:913
Renpenning Syndrome
Abnormal hairshaft morphology, Alopecia, Epicanthus, Macrodontia, Severe short stature, Cachexia,... ORPHA:3242
Trichohepatoenteric Syndrome 1
Villous atrophy, Brittle hair, Polyhydramnios, Hepatic fibrosis, Sparse hair, Intractable diarrhe... OMIM:222470
Cap Polyposis
Atrophic gastritis, Abdominal pain, Abdominal distention, Diarrhea, Weight loss, Hematochezia, Co... ORPHA:160148
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18
Elevated hepatic transaminase, Hepatomegaly, Short stature, Feeding difficulties, Esophagitis, In... OMIM:615356
Laryngeal Neuroendocrine Tumor
Chronic noninfectious lymphadenopathy, Anorexia, Oral-pharyngeal dysphagia, Weight loss, Exertion... ORPHA:100083
Alpha-1-Antitrypsin Deficiency
Elevated hepatic transaminase, Chronic bronchitis, Hepatocellular carcinoma, Cough, Splenomegaly,... OMIM:613490
Immune Deficiency, Familial Variable
Decreased circulating IgG level, Decreased circulating IgA level OMIM:146830
Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema
Respiratory distress, Tongue edema, Palpebral edema, Pharyngeal edema, Swollen lip, Pruritus, Fac... ORPHA:100057
Insulin-Resistance Syndrome Type B
Alopecia, Enlarged ovaries, Skin rash, Pneumonia, Decreased circulating complement factor B conce... ORPHA:2298
Chronic Beryllium Disease
Lymphocytic interstitial pneumonia, Mediastinal lymphadenopathy, Hypersensitivity pneumonitis, Dy... ORPHA:133
Multiple Endocrine Neoplasia Type 4
Peptic ulcer, Testicular neoplasm, Diarrhea, Erythema, Insulinoma, Thymoma, Extrahepatic cholesta... ORPHA:276152
Shwachman-Diamond Syndrome
Normocytic anemia, Osteopenia, Sinusitis, Aplastic anemia, Transient neutropenia, Oral ulcer, Leu... ORPHA:811
Schöpf-Schulz-Passarge Syndrome
Sparse hair, Alopecia, Aplasia/Hypoplasia of the eyebrow ORPHA:50944
Wolman Disease
Nausea and vomiting, Hepatomegaly, Bone-marrow foam cells, Cachexia, Splenomegaly, Abdominal dist... ORPHA:75233
Microcephalic Primordial Dwarfism, Toriello Type
Recurrent respiratory infections, Severe short stature, Downturned corners of mouth, Decreased ci... ORPHA:2643
Rhizomelic Chondrodysplasia Punctata, Type 1
Alopecia, Calcific stippling of infantile cartilaginous skeleton, Rhizomelia, Severe short statur... OMIM:215100
Farber Disease
Respiratory distress, Intrahepatic cholestasis with episodic jaundice, Nodular pattern on pulmona... ORPHA:333
Whim Syndrome 1
Recurrent upper respiratory tract infections, Bronchiectasis, Decreased circulating antibody leve... OMIM:193670
Fgfr2-Related Bent Bone Dysplasia
Osteopenia, Natal tooth, Extramedullary hematopoiesis, Incomplete ossification of pubis, Gingival... ORPHA:313855
Progeria-Short Stature-Pigmented Nevi Syndrome
Osteopenia, Multiple joint contractures, Selective tooth agenesis, Lack of facial subcutaneous fa... ORPHA:2959
Caroli Disease
Liver abscess, Cholangitis, Anorexia, Vomiting, Hepatic fibrosis, Nausea, Hepatomegaly, Portal hy... ORPHA:53035
Leprosy
Absent eyebrow, Alopecia, Epistaxis, Abnormality of the spleen, Loss of eyelashes, Penetrating fo... ORPHA:548
Refractory Celiac Disease
Normocytic anemia, Elevated hepatic transaminase, Inflammatory abnormality of the skin, Villous a... ORPHA:398063
Eec Syndrome
Xerostomia, Orofacial cleft, Coarse hair, Hypoplasia of the thymus, Microdontia, Short stature, A... ORPHA:1896
Gamma-Heavy Chain Disease
Hepatomegaly, Autoimmune hemolytic anemia, Recurrent respiratory infections, Skin rash, Autoimmun... ORPHA:100026
Follicular Lymphoma
Abnormal peritoneum morphology, Lymphedema, Splenomegaly, Mediastinal lymphadenopathy, Lymphadeno... ORPHA:545
Psoriasis 15, Pustular, Susceptibility To
Psoriasiform dermatitis OMIM:616106
Sarcoidosis, Susceptibility To, 1
Generalized lymphadenopathy, Anorexia, Uveitis, Inflammation of the large intestine, Cough, Emphy... OMIM:181000
Immunodeficiency 54
Hepatomegaly, Recurrent respiratory infections, Failure to thrive, Short stature, Postnatal growt... OMIM:609981
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Alopecia, Hypopigmentation of hair ORPHA:1067
Polyarteritis Nodosa
Abnormality of the gastrointestinal tract, Pericarditis, Cutis marmorata, Abdominal pain, Abnorma... ORPHA:767
Trichotillomania
Alopecia OMIM:613229
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis
Mild postnatal growth retardation, Ankle swelling, Joint stiffness, Iridocyclitis, Knee osteoarth... ORPHA:85408
Mpdu1-Cdg
Eczema, Feeding difficulties, Thin vermilion border, Scaling skin, Ichthyosis, Nasogastric tube f... ORPHA:79323
Mueller-Weiss Syndrome
Limitation of movement at ankles, Edema of the dorsum of feet, Sclerosis of foot bone, Joint stif... ORPHA:566943
Japanese Encephalitis
Respiratory distress, Irregular respiration, Neutrophilia, Genu recurvatum, Stiff neck, Anorexia,... ORPHA:79139
Pearson Marrow-Pancreas Syndrome
Sideroblastic anemia, Villous atrophy, Anorexia, Reticulocytopenia, Hydrops fetalis, Dehydration,... OMIM:557000
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome
Synophrys, Palmoplantar hyperkeratosis, Ectodermal dysplasia, Sparse hair, Dystrophic fingernails... ORPHA:3253
Noonan Syndrome 2
Curly hair, Epicanthus, Short stature, Polyhydramnios, Sparse eyebrow, Cubitus valgus, Patent duc... OMIM:605275
Ectodermal Dysplasia/Short Stature Syndrome
Delayed eruption of teeth, Epidermal acanthosis, Short stature, Esophageal stricture, Asthma, Hyp... OMIM:616029
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Elevated hepatic transaminase, Pruritus, Granulomatous cholangitis, Ulcerative colitis, Cholestas... ORPHA:562639
Nevoid Hypermelanosis, Linear And Whorled
Eosinophilia OMIM:614323
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Hepatomegaly, Splenomegaly, Persistence of hemoglobin F, Pallor, Anemia ORPHA:46532
Catel-Manzke Syndrome
Short stature, Camptodactyly of finger, Highly arched eyebrow, Joint stiffness, Cleft palate, Glo... ORPHA:1388
Mycetoma
Recurrent bacterial skin infections, Abnormality of the knee, Osteomyelitis, Abdominal mass, Pelv... ORPHA:2583
Say-Barber-Miller Syndrome
Patellar hypoplasia, Abnormal T cell morphology, Knee flexion contracture, High palate, Decreased... ORPHA:3132
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Osteopenia, Villous atrophy, T lymphocytopenia, Infectious encephalitis, Short stature, Autoimmun... ORPHA:391487
Familial Cold Autoinflammatory Syndrome 3
Recurrent sinopulmonary infections, Allergic rhinitis, Pruritus, Asthma, Erythema, Angioedema, De... OMIM:614468
Chediak-Higashi Syndrome
Impaired neutrophil bactericidal activity, Recurrent bacterial skin infections, Hypopigmentation ... OMIM:214500
Systemic-Onset Juvenile Idiopathic Arthritis
Anterior uveitis, Pericarditis, Hepatomegaly, Skin rash, Splenomegaly, Lymphadenopathy, Juvenile ... ORPHA:85414
Wiskott-Aldrich Syndrome 2
Eczema OMIM:614493
Epidermolysis Bullosa, Lethal Acantholytic
Alopecia totalis, Acantholysis, Absent fingernail, Anonychia, Alopecia universalis OMIM:609638
Cushing Disease
Plethora, Increased body weight, Recurrent cutaneous fungal infections, Pedal edema, Ecchymosis, ... ORPHA:96253
Okur-Chung Neurodevelopmental Syndrome
Thin upper lip vermilion, Ptosis, Epicanthus, Failure to thrive, Highly arched eyebrow, Protrudin... OMIM:617062
Alopecia-Intellectual Disability Syndrome
Sparse scalp hair, Alopecia, Sparse body hair, Aplasia/Hypoplasia of the eyebrow ORPHA:2850
Bare Lymphocyte Syndrome, Type Ii
Viral hepatitis, Villous atrophy, Cholangitis, Malabsorption, Recurrent upper respiratory tract i... OMIM:209920
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Impaired lymphocyte transformation with phytohemagglutinin, Increased CD4:CD8 ratio, Minimal chan... OMIM:617006
Familial Tumoral Calcinosis
Hepatomegaly, Skin rash, Abnormality of the dentition, Splenomegaly, Abnormality of the gingiva, ... ORPHA:53715
Infantile Systemic Hyalinosis
Osteopenia, Lymphedema, Aplasia/Hypoplasia of the thymus, Abnormal dental morphology, Osteomalaci... ORPHA:2176
Immunodeficiency 43
Recurrent respiratory infections, Decreased specific antibody response to polysaccharide vaccine,... OMIM:241600
Insulin Autoimmune Syndrome
Acanthosis nigricans, Arthralgia/arthritis, Increased circulating antibody level, Weight loss ORPHA:411593
Epidermolysis Bullosa Dystrophica, Autosomal Recessive
Spontaneous esophageal perforation, Alopecia, Oral mucosal blisters, Narrow mouth, Esophageal str... OMIM:226600
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6
Pancytopenia, Decreased circulating antibody level, Premature graying of hair, Restrictive ventil... OMIM:619767
Mirage Syndrome
Short stature, Hypergonadotropic hypogonadism, Thrombocytopenia, Esophageal stricture, Chronic di... OMIM:617053
Mucolipidosis Type Ii
Dry hair, White hair, Knee flexion contracture, Otitis media, Shallow orbits, Telangiectases of t... ORPHA:576
Heme Oxygenase 1 Deficiency
Hemolytic anemia, Increased circulating interleukin 6 concentration, Hepatomegaly, Epistaxis, Ele... OMIM:614034
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Respiratory distress, Anorexia, Oral-pharyngeal dysphagia, Intestinal perforation, Xerostomia, Ga... ORPHA:95455
Neutrophilic Dermatosis, Acute Febrile
Increased circulating interleukin 6 concentration, Erythema, Pyoderma gangrenosum, Anemia, Pannic... OMIM:608068
Hemophagocytic Lymphohistiocytosis, Familial, 2
Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Skin rash, Edema, Reduced natural kill... OMIM:603553
Trichorhinophalangeal Syndrome, Type Ii
Osteopenia, Chronic gastritis, Mild postnatal growth retardation, Bilateral cryptorchidism, Deep ... OMIM:150230
Donohue Syndrome
Postnatal growth retardation, Abdominal distention, Thick lower lip vermilion, Gingival overgrowt... OMIM:246200
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form
Flexion contracture, Gastroesophageal reflux, Constipation, Narrow mouth, Delayed puberty, Anemia... ORPHA:89842
Trimethylaminuria
Splenomegaly, Recurrent pneumonia, Anemia, Neutropenia OMIM:602079
Mast Cell Sarcoma
Hepatomegaly, Mediastinal lymphadenopathy, Splenomegaly, Lymphadenopathy, Weight loss, Mastocytosis ORPHA:66661
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome
Prominent metopic ridge, Synophrys, Cleft palate, Decreased circulating antibody level, Short phi... ORPHA:85317
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome
Abnormal hair quantity, Lymphedema, Malabsorption, Decreased circulating antibody level, Lymphopenia ORPHA:1116
Thymoma
Myositis, Aplastic anemia, Glomerulonephritis, Abnormal lymphocyte proliferation, Abnormal lympho... ORPHA:99867
Polyneuropathy Associated With Igm Monoclonal Gammopathy With Anti-Mag
Monoclonal immunoglobulin M proteinemia ORPHA:639
Pemphigus Vulgaris
Recurrent cutaneous abscess formation, Acantholysis, Feeding difficulties in infancy, Weight loss... ORPHA:704
Noonan Syndrome 7
Curly hair, Epicanthus, Short stature, Joint hypermobility, Large for gestational age, Cubitus va... OMIM:613706
Psoriasis 1, Susceptibility To
Arthritis, Psoriasiform dermatitis OMIM:177900
Griscelli Syndrome Type 2
Nausea and vomiting, Hepatomegaly, Hypopigmentation of hair, Pancytopenia, Splenomegaly, Jaundice... ORPHA:79477
Cutaneous Collagenous Vasculopathy
Prominent superficial blood vessels, Skin rash, Pruritus, Erythema, Diffuse telangiectasia, Bruis... ORPHA:280779
Pneumocystosis
Multiple pulmonary cysts, Respiratory failure requiring assisted ventilation, Abnormal neutrophil... ORPHA:723
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1
Myositis, Flexion contracture, Eosinophilia OMIM:253600
Ectodermal Dysplasia-Syndactyly Syndrome 2
Thin upper lip vermilion, Cardiomegaly, Ectodermal dysplasia, Palmoplantar keratoderma, Follicula... OMIM:613576
Niemann-Pick Disease, Type B
Hepatomegaly, Recurrent respiratory infections, Short stature, Bone-marrow foam cells, Thrombocyt... OMIM:607616
Macrophage Activation Syndrome
Increased inflammatory response, Increased circulating interleukin 6 concentration, Hepatomegaly,... ORPHA:158061
Immunodeficiency Due To Defect In Mapbp-Interacting Protein
Decreased circulating total IgM, Recurrent bronchopulmonary infections, Short stature, Neutropenia OMIM:610798
Ameloonychohypohidrotic Syndrome
Seborrheic dermatitis OMIM:104570
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Hepatomegaly, Intestinal obstruction, Generalized edema, Edema, Malabsorption, Pulmonary embolism... OMIM:226300
Spinocerebellar Ataxia 34
Epidermal hyperkeratosis, Erythroderma OMIM:133190
Palmoplantar Keratoderma I, Striate, Focal, Or Diffuse
Yellow nails, Onycholysis, Nail dystrophy, Epidermal acanthosis OMIM:148700
Chédiak-Higashi Syndrome
Edema, Large clumps of pigment irregularly distributed along hair shaft, Vacuolated lymphocytes, ... ORPHA:167
Subcorneal Pustular Dermatosis
Pruritus, Pustule, Erythema, Increased circulating antibody level, Rheumatoid arthritis ORPHA:48377
Recessive Dystrophic Epidermolysis Bullosa Inversa
Oral mucosal blisters, Carious teeth, Esophageal stricture, Gastrointestinal inflammation, Growth... ORPHA:79409
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant
Short stature, Eczema, Celiac disease, Postnatal growth retardation, Increased circulating IgE le... OMIM:618985
Mannosidosis, Alpha B, Lysosomal
Hepatomegaly, Epicanthus, Splenomegaly, Vacuolated lymphocytes, Low anterior hairline, Gingival o... OMIM:248500
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Elevated hepatic transaminase, Brain abscess, Neutrophilia, Liver abscess, Abdominal pain, Abnorm... ORPHA:54251
Basan Syndrome
Epidermal acanthosis, Nail dystrophy OMIM:129200
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Osteopenia, Tented upper lip vermilion, Exaggerated cupid's bow, Joint hypermobility, Craniosynos... ORPHA:369837
Systemic Lupus Erythematosus
Hemolytic anemia, Alopecia, Lupus nephritis, Discoid lupus rash, Cheilitis, Oral ulcer, Lymphaden... ORPHA:536
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome
Sparse scalp hair, Hepatomegaly, Sparse eyelashes, Abnormal dental enamel morphology, Portal hype... ORPHA:59303
Osteochondrosis Of The Metatarsal Bone
Sclerosis of foot bone, Joint stiffness, Pedal edema, Arthritis, Progressive joint destruction, C... ORPHA:564003
Digeorge Syndrome
Impaired T cell function, High, narrow palate, Abnormal thymus morphology, High palate, Gastroeso... OMIM:188400
Atypical Werner Syndrome
Sclerosis of hand bone, Abnormal hair whorl, Reduced bone mineral density, Premature graying of h... ORPHA:79474
Fountain Syndrome
Thick eyebrow, Epicanthus, Short stature, Cutis marmorata, Facial edema, Synophrys, Erythema, Thi... ORPHA:3219
Hermansky-Pudlak Syndrome
Gastrointestinal hemorrhage, Hypopigmentation of hair, Menometrorrhagia, Abnormal dental enamel m... ORPHA:79430
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1
Polyhydramnios, Large for gestational age, High palate, Sparse hair, Joint laxity, Short stature,... OMIM:607721
X-Linked Intellectual Disability-Seizures-Psoriasis Syndrome
Psoriasiform dermatitis ORPHA:3052
Cholestasis, Progressive Familial Intrahepatic, 10
Hepatomegaly, Short stature, Elevated circulating aspartate aminotransferase concentration, Pruri... OMIM:619868
Ichthyosis, Congenital, Autosomal Recessive 3
Erythema, Hyperkeratosis, Palmoplantar keratoderma, Congenital nonbullous ichthyosiform erythrode... OMIM:606545
Hemoglobin D Disease
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Abnormal hemoglob... ORPHA:90039
Holocarboxylase Synthetase Deficiency
Respiratory distress, Nausea and vomiting, Alopecia, Eczema, Anorexia, Tachypnea, Keratoconjuncti... ORPHA:79242
Retinal Telangiectasia And Hypogammaglobulinemia
Reduced delayed hypersensitivity, Decreased circulating IgG level, Retinal telangiectasia OMIM:267900
Bone Dysplasia, Lethal Holmgren Type
Joint dislocation, Hepatomegaly, Recurrent respiratory infections, Redundant neck skin, Rhizomeli... ORPHA:1842
Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature
Short stature, Recurrent upper respiratory tract infections, Bronchiectasis, Livedo, Decreased ci... OMIM:615139
Takayasu Arteritis
Increased inflammatory response, Anorexia, Skin ulcer, Weight loss, Arthritis, Gastrointestinal i... ORPHA:3287
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Plantar telangiectasia, Sparse scalp hair, Alopecia, Absent eyebrow, Palpebral edema, Predominant... ORPHA:69735
Coproporphyria, Hereditary
Hepatomegaly, Increased fecal coproporphyrin III:coproporphyrin I ratio, Increased fecal copropor... OMIM:121300
Agel Amyloidosis
Tongue atrophy, Edema, Pruritus, Respiratory tract infection, Bilateral ptosis, Xerostomia, Cutis... ORPHA:85448
Lichen Planus Pemphigoides
Abnormal oral mucosa morphology, Pruritus, Hyperkeratosis, Conjunctivitis, Skin vesicle, Blephari... ORPHA:254478
Rhizomelic Chondrodysplasia Punctata
Alopecia, Dry skin, Sparse body hair ORPHA:177
Symptomatic Form Of Hfe-Related Hemochromatosis
Arthropathy, Cardiomegaly, Stiff interphalangeal joints, Hepatomegaly, Hypogonadotropic hypogonad... ORPHA:465508
Desmoplastic Small Round Cell Tumor
Abnormal peritoneum morphology, Hepatomegaly, Neoplasm of the pancreas, Nausea and vomiting, Cach... ORPHA:83469
Lethal Acantholytic Erosive Disorder
Absent eyebrow, Natal tooth, Acantholysis, Absent eyelashes, Cardiomegaly, Oligohydramnios, Cleft... ORPHA:158687
Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome
Patent ductus arteriosus, Comedonal acne, Follicular hyperkeratosis OMIM:615147
Congenital Disorder Of Glycosylation, Type Ik
Hepatomegaly, Nonimmune hydrops fetalis, Splenomegaly, Flexion contracture, Thin vermilion border... OMIM:608540
Rhabdoid Tumor
Nausea and vomiting, Poor appetite, Abdominal pain, Respiratory insufficiency, Lymphadenopathy, A... ORPHA:69077
Porphyria, Congenital Erythropoietic
Osteopenia, Increased fecal coproporphyrin 1, Conjunctivitis, Absent eyebrow, Alopecia, Hemolytic... OMIM:263700
Neuropathy, Hereditary Sensory, Type If
Hyperkeratosis, Osteomyelitis, Neuropathic arthropathy, Osteolytic defects of the phalanges of th... OMIM:615632
Adult Syndrome
Sparse scalp hair, Alopecia, Absent nipple, Breast hypoplasia, Nail pits, Fine hair, Skin ulcer, ... ORPHA:978
Immunodeficiency 19
Recurrent respiratory infections, Chronic diarrhea, T lymphocytopenia, Abnormal B cell morphology... OMIM:615617
Loeffler Endocarditis
Pericarditis, Eosinophilia, Dyspnea, Weight loss, Cough, Left ventricular hypertrophy ORPHA:75566
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin
Decreased circulating IgA level OMIM:235500
Cernunnos-Xlf Deficiency
Thrombocytopenia, Decreased circulating antibody level, Growth delay, T lymphocytopenia, B lympho... ORPHA:169079
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Dysmenorrhea, Increased body weight, Vomiting, Hepatic fibrosis, Hepatic steatosis, Nausea, Hepat... ORPHA:264580
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant
Recurrent bacterial skin infections, Sparse eyelashes, Trichiasis, Keratitis, Sparse eyebrow, Elb... OMIM:148210
Progressive Familial Intrahepatic Cholestasis
Hepatomegaly, Short stature, Malabsorption, Splenomegaly, Jaundice, Cholestasis, Reduced bone min... ORPHA:172
Legionnaires Disease
Anorexia, Abnormal lung morphology, Cough, Infectious encephalitis, Abdominal pain, Recurrent pha... ORPHA:549
Adams-Oliver Syndrome
Gastrointestinal hemorrhage, Alopecia, Failure to thrive, Cutis marmorata, Portal hypertension, C... ORPHA:974
Acquired Idiopathic Sideroblastic Anemia
Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Pancytopenia, Thrombocytosis, Abnormal f... ORPHA:75564
Bleeding Disorder, Platelet-Type, 21
Alopecia, Psoriasiform dermatitis, Eczema, Increased mean platelet volume, Impaired ADP-induced p... OMIM:617443
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Alopecia, Psoriasiform dermatitis, Severe B lymphocytopenia, Alopecia totalis, Failure to thrive,... ORPHA:293978
Allergic Bronchopulmonary Aspergillosis
Abnormal eosinophil morphology, Abnormal fingernail morphology, Asthma, Bronchiectasis, Respirato... ORPHA:1164
Hardikar Syndrome
Intrahepatic bile duct cysts, Cholangitis, Vomiting, Hepatic fibrosis, Intrahepatic bile duct dil... OMIM:301068
Arthrogryposis And Ectodermal Dysplasia
Absent eyebrow, Entropion, Short stature, Abnormal dental enamel morphology, Trichiasis, Cleft up... OMIM:601701
Idiopathic Non-Lupus Full-House Nephropathy
Skin rash, Glomerulonephritis, Oral ulcer, Synovitis, Arthritis, Decreased circulating complement... ORPHA:567544
Neutropenia, Severe Congenital, X-Linked
Monocytopenia, Decreased CD4:CD8 ratio, Eczema, Neutropenia OMIM:300299
Lymphoid Interstitial Pneumonia
Crackles, Cough, Decreased DLCO, Hepatomegaly, Multiple pulmonary cysts, Respiratory tract infect... ORPHA:79128
Vibratory Urticaria
Urticaria, Flushing, Facial erythema OMIM:125630
Dyskeratosis Congenita, Autosomal Recessive 8
Sparse scalp hair, Pancytopenia, Esophageal stricture, Pancolitis, Inflammation of the large inte... OMIM:620133
Congenital Disorder Of Glycosylation, Type Ie
Respiratory distress, Hepatomegaly, Elevated hepatic transaminase, Ankle flexion contracture, Spl... OMIM:608799
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis
Psoriasiform dermatitis, Acne, Osteomyelitis, Skin rash, Edema, Pruritus, Abnormal sacroiliac joi... ORPHA:324964
Transaldolase Deficiency
Synophrys, Deep philtrum, Hepatic fibrosis, Short philtrum, Hepatomegaly, Micronodular cirrhosis,... OMIM:606003
Reactive Arthritis
Pericarditis, Osteomyelitis, Abnormal pleura morphology, Joint stiffness, Pustule, Abdominal pain... ORPHA:29207
Ectodermal Dysplasia-Blindness Syndrome
Recurrent respiratory infections, Abnormal fingernail morphology, Short stature, Abnormality of t... ORPHA:1806
Congenital Disorder Of Glycosylation, Type Iij
Elevated hepatic transaminase, Hepatomegaly, Recurrent respiratory infections, Thick hair, Spleno... OMIM:613489
Spondylometaphyseal Dysplasia, Axial
Rhizomelia, Short stature, Splenomegaly, Recurrent pneumonia, Disproportionate short-trunk short ... OMIM:602271
Ectodermal Dysplasia 12, Hypohidrotic/Hair/Tooth/Nail Type
Subungual hyperkeratosis, Natal tooth, Eczema, Trichorrhexis nodosa, Scarring alopecia of scalp, ... OMIM:617337
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 1
Osteopenia, Pancytopenia, Aplastic anemia, Crackles, Cough, Mediastinal lymphadenopathy, Usual in... OMIM:614742
Premature Ovarian Failure 2B
Premature ovarian insufficiency, Female infertility, Abnormality of the dentition, Osteoporosis, ... OMIM:300604
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Neutropenia, Bronchiectasis, Decreased proportion of class-switched memory B cells, Agammaglobuli... OMIM:619705
Dermatofibrosarcoma Protuberans
Thickened skin, Erythema, Skin ulcer ORPHA:31112
Immunodeficiency 37
Decreased proportion of central memory CD4-positive, alpha-beta T cells, Colitis, Infectious ence... OMIM:616098
Marburg Hemorrhagic Fever
Anorexia, Nonproductive cough, Odynophagia, Uveitis, Bloody diarrhea, Dehydration, Leukopenia, Vo... ORPHA:99826
Cowden Syndrome 1
Colonic diverticula, Acrokeratosis, Thyroiditis, Palmoplantar hyperkeratosis, Decreased circulati... OMIM:158350
Spinocerebellar Ataxia, Autosomal Recessive 20
Delayed eruption of teeth, Hepatomegaly, Epicanthus, Dental crowding, Splenomegaly, Macroglossia,... OMIM:616354
Tick-Borne Encephalitis
Elevated hepatic transaminase, Stiff neck, Anorexia, Thrombocytopenia, Leukocytosis, Increased ci... ORPHA:297
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome
Alopecia, Severe short stature, Abnormal dental enamel morphology, Joint stiffness, Abnormality o... ORPHA:1005
Livedoid Vasculopathy
Pancytopenia, Superficial dermal perivascular inflammatory infiltrate, Recurrent skin infections,... ORPHA:542643
Cardiofaciocutaneous Syndrome 3
Curly hair, Short stature, Reduced bone mineral density, Wide mouth, Hyperkeratosis, Webbed neck,... OMIM:615279
Degcags Syndrome
Osteopenia, Polyhydramnios, Oral-pharyngeal dysphagia, Synophrys, Low anterior hairline, Prematur... OMIM:619488
Schimke Immunoosseous Dysplasia
Osteopenia, Bilateral cryptorchidism, Abnormal T cell morphology, Coarse hair, Neutropenia, Micro... OMIM:242900
Rasmussen Subacute Encephalitis
Decreased circulating total IgA ORPHA:1929
Talo-Patello-Scaphoid Osteolysis
Osteolysis of talus, Enlarged joints, Osteolysis of scaphoids, Synovitis, Osteolysis of patellae ORPHA:50809
Hypertrophic Osteoarthropathy, Primary, Autosomal Dominant
Acne, Seborrheic dermatitis OMIM:167100
Ichthyosis, Congenital, Autosomal Recessive 8
Epidermal acanthosis, Hypergranulosis, Erythema, Hyperkeratosis, Ichthyosis, Orthokeratosis OMIM:613943
Autoinflammatory Disease, Systemic, X-Linked
Anterior uveitis, Complete or near-complete absence of specific antibody response to unconjugated... OMIM:301081
Erythema Of Acral Regions
Erythema, Abnormality of the dentition OMIM:227000
Cholestasis, Progressive Familial Intrahepatic, 12
Hepatomegaly, Short stature, Elevated circulating aspartate aminotransferase concentration, Pruri... OMIM:620010
Ethylene Glycol Poisoning
Cyanosis, Gastritis, Abnormal pattern of respiration, Tachypnea, Episodic respiratory distress, R... ORPHA:31826
Budd-Chiari Syndrome
Gastrointestinal hemorrhage, Hepatomegaly, Intestinal obstruction, Acute hepatic failure, Elevate... ORPHA:131
Squamous Cell Carcinoma Of The Anal Canal
Anal stenosis, Abdominal pain, Rectal prolapse, Skin ulcer, Lymphadenopathy, Neoplasm of the rect... ORPHA:424019
Rheumatic Fever
Nausea and vomiting, Pericarditis, Sinusitis, Epistaxis, Abnormal pleura morphology, Anorexia, Ab... ORPHA:3099
Ectodermal Dysplasia-Sensorineural Deafness Syndrome
Brittle hair, Short stature, Camptodactyly of finger, Carious teeth, Hyperkeratosis, Coarse hair,... ORPHA:1883
Immunodeficiency 55
Absent natural killer cells, Recurrent skin infections, Eczema, Short stature, Postnatal growth r... OMIM:617827
Mgat2-Cdg
Respiratory distress, Osteopenia, Dental crowding, Hydrops fetalis, Gastroesophageal reflux, Decr... ORPHA:79329
Palmoplantar Keratoderma, Punctate Type Ia
Epidermal acanthosis OMIM:148600
Johanson-Blizzard Syndrome
Delayed eruption of teeth, Absent lacrimal punctum, Alopecia, Short stature, Abnormal hair patter... ORPHA:2315
Hypotrichosis-Lymphedema-Telangiectasia Syndrome
Sparse scalp hair, Alopecia, Absent eyebrow, Abnormal sweat gland morphology, Absent eyelashes, A... OMIM:607823
Leukocyte Adhesion Deficiency Type Ii
Severe periodontitis, Microcytic anemia, Deep philtrum, Low anterior hairline, Skin vesicle, Prem... ORPHA:99843
Melas
Intestinal pseudo-obstruction, Short stature, Hypogonadotropic hypogonadism, Gastrointestinal dys... ORPHA:550
Noonan Syndrome 10
Curly hair, Epicanthus, Short stature, Sparse eyebrow, Cryptorchidism, Patent ductus arteriosus, ... OMIM:616564
Retinitis Pigmentosa 89
Micronodular cirrhosis, Esophageal varix, Hepatosplenomegaly, Hepatic fibrosis, Intrahepatic bile... OMIM:618955
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Acute myeloid leukemia, Elevated hepatic transaminase, Pancytopenia, Hepatocellular carcinoma, Th... ORPHA:158057
Mitochondrial Neurogastrointestinal Encephalomyopathy
Poor appetite, Gastrointestinal dysmotility, Gastroesophageal reflux, Vomiting, Macrovesicular he... ORPHA:298
Glycogen Storage Disease Iv
Failure to thrive, Portal hypertension, Edema, Polyhydramnios, Esophageal varix, Hydrops fetalis,... OMIM:232500
Sodium-Dependent Multivitamin Transporter Deficiency
Decreased circulating IgG level, Episodic vomiting, Gastrostomy tube feeding in infancy OMIM:618973
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Respiratory distress, Hepatomegaly, Failure to thrive, Elevated hepatic transaminase, Nonimmune h... ORPHA:367
Immunodeficiency, Common Variable, 6
Hepatomegaly, Recurrent respiratory infections, Glomerulonephritis, Autoimmune thrombocytopenia, ... OMIM:613496
Combined Cellular And Humoral Immune Defects With Granulomas
T lymphocytopenia, Decreased circulating IgG level, B lymphocytopenia, Recurrent respiratory infe... OMIM:233650
Angioma Serpiginosum
Erythema, Vascular skin abnormality ORPHA:95429
Leukocyte Adhesion Deficiency
Sinusitis, Severe periodontitis, Gingivitis, Conjunctivitis, Otitis media, Vaginitis, Polycythemi... ORPHA:2968
Warburg-Cinotti Syndrome
Epicanthus, Dental crowding, Symblepharon, Ankle flexion contracture, Poor wound healing, Erythem... OMIM:618175
Microlissencephaly
Pneumonia ORPHA:1083
Aicardi-Goutieres Syndrome 9
Edema, Hepatic fibrosis, Hepatic steatosis, Hemolytic anemia, Hepatomegaly, Chilblains, Portal hy... OMIM:619487
Sepsis In Premature Infants
Increased circulating interleukin 6 concentration, Abnormal mucociliary clearance, Edema, Gastroi... ORPHA:90051
Melioidosis
Foot osteomyelitis, Unusual skin infection, Liver abscess, Brain abscess, Pneumonia, Lung abscess... ORPHA:31202
B4Galt1-Cdg
Elevated hepatic transaminase, Hepatomegaly, Inflammatory abnormality of the skin, Redundant neck... ORPHA:79332
Autoinflammation With Episodic Fever And Lymphadenopathy
Hepatomegaly, Microcytic anemia, Abdominal pain, Splenomegaly, Recurrent tonsillitis, Oral ulcer,... OMIM:618852
Papillon-Lefèvre Syndrome
Liver abscess, Severe periodontitis, Palmoplantar hyperkeratosis, Gingivitis, Periodontitis, Abno... ORPHA:678
Adams-Oliver Syndrome 6
Cutis marmorata, Portal hypertension, Hypoplastic toenails, Splenomegaly, Esophageal varix, Hepat... OMIM:616589
Amelo-Onycho-Hypohidrotic Syndrome
Delayed eruption of teeth, Abnormality of dental color, Abnormal dental morphology, Abnormal dent... ORPHA:1028
O'Sullivan-Mcleod Syndrome
Increased circulating antibody level, Eosinophilia ORPHA:99965
Chops Syndrome
High, narrow palate, Synophrys, Downturned corners of mouth, Coarse hair, Gastroesophageal reflux... OMIM:616368
Hidrotic Ectodermal Dysplasia, Halal Type
Sparse scalp hair, Absent eyebrow, Abnormal fingernail morphology, Supernumerary nipple, Absent e... ORPHA:1809
Palmoplantar Keratoderma, Nonepidermolytic, Focal Or Diffuse
Epidermal acanthosis OMIM:615735
Muscular Dystrophy, Congenital, Davignon-Chauveau Type
Joint laxity, Reduced forced vital capacity, Respiratory insufficiency due to muscle weakness, Fe... OMIM:617066
Ectodermal Dysplasia And Immunodeficiency 1
Dysgammaglobulinemia, Increased circulating IgA level, Reduced natural killer cell activity, Lymp... OMIM:300291
Multicentric Reticulohistiocytosis
Arthritis, Cachexia, Histiocytosis ORPHA:139436
Oocyte/Zygote/Embryo Maturation Arrest 9
Oocyte arrest at metaphase I, Female infertility OMIM:619011
Dyskeratosis Congenita, X-Linked
Ridged nail, Pterygium of nails, Premature graying of hair, Leukopenia, Conjunctivitis, Pterygium... OMIM:305000
Eng-Strom Syndrome
Arthritis, Short stature, Camptodactyly of finger, Intrauterine growth retardation ORPHA:1937
Pierre Robin Sequence With Facial And Digital Anomalies
Hyperconvex nail, Pierre-Robin sequence, Cleft palate, Glossoptosis, Easily subluxated first meta... OMIM:311895
Glucagonoma
Anorexia, Poor appetite, Lack of bowel sounds, Hepatomegaly, Necrolytic migratory erythema, Acant... ORPHA:97280
Orthostatic Hypotensive Disorder, Streeten Type
Bruising susceptibility, Facial erythema OMIM:143850
Alopecia-Contractures-Dwarfism Mental Retardation Syndrome
Generalized hypoplasia of dental enamel, Alopecia, Telecanthus, Severe short stature, Carious tee... OMIM:203550
Spastic Ataxia-Corneal Dystrophy Syndrome
Decreased circulating antibody level ORPHA:2572
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Respiratory insufficiency due to muscle weakness, Flexion contracture, Hepatosplenomegaly, Respir... ORPHA:2590
Psoriasis-Related Juvenile Idiopathic Arthritis
Anterior uveitis, Abnormality of the knee, Psoriasiform dermatitis, Skin rash, Psoriasiform lesio... ORPHA:85436
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Osteopenia, Hepatomegaly, Skin rash, Allergic rhinitis, Anemia of inadequate production, Carious ... OMIM:612714
Juvenile Hyaline Fibromatosis
Abnormality of the gastrointestinal tract, Progressive flexion contractures, Joint stiffness, Abn... ORPHA:2028
Zimmermann-Laband Syndrome
High palate, Absent fingernail, Bifid uvula, Hepatomegaly, Supernumerary tooth, Generalized hyper... ORPHA:3473
Immunoglobulin A Vasculitis
Episcleritis, Gastrointestinal hemorrhage, Nausea and vomiting, Skin rash, Edema, Anorexia, Orchi... ORPHA:761
Familial Benign Chronic Pemphigus
Skin vesicle, Erythema, Acantholysis ORPHA:2841
Familial Cold Autoinflammatory Syndrome 1
Skin rash, Leukocytosis, Aphthous ulcer, Uveitis, Urticaria, Arthritis, Conjunctivitis OMIM:120100
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Osteopenia, Hepatomegaly, Hypersplenism, Splenomegaly, Anemia, Thrombocytopenia, Ptosis OMIM:610539
Epidermolysis Bullosa, Junctional 1A, Intermediate
Patchy alopecia, Nail dystrophy, Fragile nails OMIM:226650
Spondyloenchondrodysplasia With Immune Dysregulation
Recurrent respiratory infections, Short stature, Pneumonia, Autoimmune thrombocytopenia, Neutrope... OMIM:607944
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Abnormality of the spleen, Hepatic fibrosis, Bacterial endocarditis, Ecchymosis, Poor wound heali... ORPHA:2072
Trichohepatoneurodevelopmental Syndrome
Dental crowding, Polyhydramnios, Synophrys, Downturned corners of mouth, Coarse hair, High palate... OMIM:618268
Lipodystrophy, Congenital Generalized, Type 3
Reduced subcutaneous adipose tissue, Hepatomegaly, Short stature, Splenomegaly, Primary amenorrhe... OMIM:612526
Lysosomal Acid Lipase Deficiency
Bone-marrow foam cells, Microvesicular hepatic steatosis, Vacuolated lymphocytes, Dehydration, Vo... ORPHA:275761
Hyperkeratosis Lenticularis Perstans
Pruritus, Hyperkeratosis lenticularis perstans, Skin ulcer ORPHA:409
Familial Mediterranean Fever
Hepatomegaly, Pericarditis, Neutrophilia, Abdominal pain, Orchitis, Splenomegaly, Peritonitis, Di... OMIM:249100
Milroy Disease
Epicanthus, Predominantly lower limb lymphedema, Ankle swelling, Lymphedema, Erysipelas, Pedal ed... ORPHA:79452
Ciliary Dyskinesia, Primary, 25
Recurrent respiratory infections, Neonatal respiratory distress, Chronic bronchitis, Productive c... OMIM:615482
Immunodeficiency 17
Recurrent respiratory infections, Autoimmune hemolytic anemia, Eczema, Decreased proportion of CD... OMIM:615607
Caroli Syndrome
Liver abscess, Cholangitis, Abnormal intrahepatic bile duct morphology, Leukopenia, Hepatomegaly,... ORPHA:480520
Infantile Myofibromatosis
Neoplasm of the pancreas, Intestinal obstruction, Abnormal hair morphology, Limitation of joint m... ORPHA:2591
Bullous Pemphigoid
Psoriasiform dermatitis, Eczema, Erythema, Weight loss, Urticaria ORPHA:703
Zellweger-Like Syndrome Without Peroxisomal Anomalies
Hepatomegaly, Alopecia, Brittle hair, Epicanthus, Short stature, Upslanted palpebral fissure, Hig... ORPHA:50812
Tempi Syndrome
Transudative pleural effusion, Facial erythema, Hypoxemia, Increased circulating IgG level, Telan... ORPHA:284227
Intellectual Developmental Disorder, Autosomal Recessive 41
Hepatomegaly, Splenomegaly, Recurrent pneumonia, High palate, Downslanted palpebral fissures OMIM:615637
Ollier Disease
Joint stiffness, Osteolysis, Skin ulcer, Lymphangioma, Anemia ORPHA:296
Sea-Blue Histiocyte Disease
Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Elevated circulating... OMIM:269600
Epidermodysplasia Verruciformis, Susceptibility To, 4
Stomatitis, Emphysema, Increased proportion of exhausted T cells, Facial erythema OMIM:618307
Congenital Rubella Syndrome
Hepatomegaly, Skin rash, Short stature, Splenomegaly, Jaundice, Patent ductus arteriosus, Anemia,... ORPHA:290
Absence Of Fingerprints-Congenital Milia Syndrome
Skin rash ORPHA:1658
Gaucher Disease Type 2
Respiratory distress, Hepatomegaly, Recurrent respiratory infections, Cough, Splenomegaly, Flexio... ORPHA:77260
Relapsing Polychondritis
Uveitis, Anteriorly placed anus, Conjunctivitis, Cough, Chondritis, Alopecia, Atelectasis, Hepati... ORPHA:728
Acute Interstitial Pneumonia
Nodular pattern on pulmonary HRCT, Crackles, Nonproductive cough, Tachypnea, Decreased DLCO, Peri... ORPHA:79126
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2
Polyhydramnios, Large for gestational age, Microvesicular hepatic steatosis, Flexion contracture,... OMIM:300868
Fetal Gaucher Disease
Hepatomegaly, Pancytopenia, Abnormality of the spleen, Splenomegaly, Flexion contracture, Hydrops... ORPHA:85212
Familial Partial Lipodystrophy, Dunnigan Type
Hepatomegaly, Dysmenorrhea, Splenomegaly, Abnormality of complement system, Acanthosis nigricans,... ORPHA:2348
Talo-Patello-Scaphoid Osteolysis, Synovitis, And Short Fourth Metacarpals
Osteolysis of talus, Osteolysis of scaphoids, Osteolysis of patellae, Synovitis OMIM:609655
Alpha-N-Acetylgalactosaminidase Deficiency Type 1
Hepatomegaly, Telangiectasia of the skin, Lymphedema, Telangiectasia, Hyperkeratosis ORPHA:79279
Oocyte/Zygote/Embryo Maturation Arrest 4
Oocyte arrest at metaphase I, Female infertility OMIM:617743
Oocyte/Zygote/Embryo Maturation Arrest 2
Oocyte arrest at metaphase I, Female infertility OMIM:616780
Punctate Palmoplantar Keratoderma Type 1
Pancreatic adenocarcinoma, Epidermal acanthosis, Hypergranulosis, Esophageal neoplasm, Abnormal e... ORPHA:79501
Focal Dermal Hypoplasia
Acute hepatic failure, Alopecia, Abnormal dental morphology, Abnormal dental enamel morphology, C... ORPHA:2092
Oocyte/Zygote/Embryo Maturation Arrest 14
Oocyte maturation arrest, Female infertility OMIM:620276
Oocyte/Zygote/Embryo Maturation Arrest 5
Lack of oocyte pronucleus formation, Female infertility OMIM:617996
Lipodystrophy Due To Peptidic Growth Factors Deficiency
Reduced subcutaneous adipose tissue, Cachexia, Joint stiffness, Abnormal hair morphology, Thicken... ORPHA:1979
Epidermolysis Bullosa Acquisita
Abdominal pain, Pruritus, Abnormal hair morphology, Inflammation of the large intestine, Nail dys... ORPHA:46487
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Alopecia, Cachexia, Malabsorption, Anorexia, Abdominal pain, Diarrhea, Xerostomia, Hamartomatous ... OMIM:175500
Sweet Syndrome
Acute myeloid leukemia, Predominantly dermal neutrophilic infiltrate, Myositis, Increased circula... ORPHA:3243
Sarcoidosis, Susceptibility To, 2
Hepatomegaly, Erythema nodosum, Mediastinal lymphadenopathy, Splenomegaly, Pneumothorax, Dyspnea,... OMIM:612387
Aredyld Syndrome
Smooth philtrum, Hepatomegaly, Short stature, Abnormal dental enamel morphology, Cachexia, Spleno... ORPHA:1133
Hurler-Scheie Syndrome
Hepatomegaly, Short stature, Abnormality of the tonsils, Splenomegaly, Limitation of joint mobili... ORPHA:93476
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Sinusitis, Short stature, Pneumonia, Enteroviral hepatitis, Prostatitis, Epididymitis, Diarrhea, ... OMIM:307200
Postinfectious Vasculitis
Anorexia, Gastrointestinal inflammation, Unusual gastrointestinal infection, Bacterial endocardit... ORPHA:48435
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2
Pancytopenia, Skin rash, Diarrhea, Erythema, Vomiting, Left ventricular hypertrophy, Episodic vom... OMIM:618321
Idiopathic Acute Eosinophilic Pneumonia
Abnormal eosinophil morphology, Abnormal pleura morphology, Abdominal pain, Respiratory insuffici... ORPHA:724
Hypotrichosis With Juvenile Macular Degeneration
Sparse scalp hair, Brittle hair, Short stature, Fine hair, Hyperkeratosis, Pili torti ORPHA:1573
Oocyte/Zygote/Embryo Maturation Arrest 10
Female infertility OMIM:619176
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea
Crackles, Gastroesophageal reflux, Vomiting, Cough, Hilar lymph node enlargement, Hepatomegaly, M... OMIM:620233
Pulmonary Non-Tuberculous Mycobacterial Infection
Respiratory distress, Crackles, Pericardial effusion, Dyspnea, Diarrhea, Pneumothorax, Chronic pu... ORPHA:411703
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Splenomegaly, Recurrent pancreatitis, Abdominal pain OMIM:118830
Nijmegen Breakage Syndrome
Conjunctival telangiectasia, Sinusitis, Deep philtrum, T lymphocytopenia, Premature ovarian insuf... OMIM:251260
Agammaglobulinemia 8A, Autosomal Dominant
Recurrent otitis media, Agammaglobulinemia, B lymphocytopenia OMIM:616941
Histiocytosis-Lymphadenopathy Plus Syndrome
Cardiomegaly, Joint contracture of the 5th finger, Pancreatic hypoplasia, Hepatomegaly, Short sta... OMIM:602782
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Fkbp22 Deficiency
Osteopenia, Bruising susceptibility, Joint hypermobility, Follicular hyperkeratosis ORPHA:300179
Multiple Endocrine Neoplasia, Type I
Pancreatic islet cell adenoma, Peptic ulcer, Diarrhea, Insulinoma, Zollinger-Ellison syndrome, Es... OMIM:131100
Multiple Myeloma
Osteopenia, Increased circulating IgA level, Splenomegaly, Functional abnormality of the gastroin... ORPHA:29073
Keratolytic Winter Erythema
Erythema OMIM:148370
Bronchogenic Cyst
Abnormal peritoneum morphology, Pulmonary cyst, Pneumonia, Abnormal pleura morphology, Abnormal s... ORPHA:2357
Oocyte/Zygote/Embryo Maturation Arrest 13
Female infertility OMIM:620154
Oocyte/Zygote/Embryo Maturation Arrest 8
Female infertility OMIM:619009
Castleman Disease
Abnormality of the gastrointestinal tract, Nausea and vomiting, Increased circulating interleukin... ORPHA:160
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Respiratory distress, Hepatomegaly, Nausea and vomiting, Anorexia, Abdominal pain, Splenomegaly, ... ORPHA:79312
Oocyte/Zygote/Embryo Maturation Arrest 12
Female infertility OMIM:619697
Singleton-Merten Syndrome 2
Osteopenia, Psoriasiform lesion, Short stature, Osteolytic defects of the phalanges of the hand, ... OMIM:616298
Babesiosis
Nausea and vomiting, Hemolytic anemia, Hepatomegaly, Anorexia, Splenomegaly, Jaundice, Recurrent ... ORPHA:108
Hatipoglu Immunodeficiency Syndrome
Pancytopenia, Fair hair, Failure to thrive, Eczema, Recurrent bronchitis, Proportionate short sta... OMIM:620331
Pierre Robin Syndrome
Neonatal respiratory distress, Feeding difficulties in infancy, Pierre-Robin sequence, Upper airw... OMIM:261800
Gastritis, Familial Giant Hypertrophic
Giant hypertrophic gastritis OMIM:137280
Drug-Induced Localized Lipodystrophy
Reduced subcutaneous adipose tissue, Erythema ORPHA:90157
Mitochondrial Complex I Deficiency, Nuclear Type 33
Apnea, Small for gestational age, Bronchiectasis, Dysphagia, Respiratory insufficiency, Feeding d... OMIM:618253
Malakoplakia
Inflammatory abnormality of the skin, Skin rash, Follicular hyperplasia, Pruritus, Orchitis, Urin... ORPHA:556
Hypertriglyceridemia, Transient Infantile
Elevated hepatic transaminase, Hepatomegaly, Short stature, Splenomegaly, Vomiting, Hepatic fibro... OMIM:614480
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Hepatomegaly, Thin upper lip vermilion, Redundant neck skin, Polyhydramnios, Thyroid lymphangiect... OMIM:235255
Epidermolysis Bullosa Simplex With Muscular Dystrophy
Hyperconvex fingernails, Skin vesicle, Alopecia, Hypoplastic fingernail ORPHA:257
Al Amyloidosis
Howell-Jolly bodies, Nonproductive cough, Xerostomia, Abnormality of the liver, Abnormal salivary... ORPHA:85443
Oculopharyngodistal Myopathy
Oral-pharyngeal dysphagia, Respiratory insufficiency due to muscle weakness, High, narrow palate,... ORPHA:98897
Sea-Blue Histiocytosis
Hepatomegaly, Petechiae, Edema, Splenomegaly, Mediastinal lymphadenopathy, Sea-blue histiocytosis... ORPHA:158029
Erythema Palmare Hereditarium
Erythema OMIM:133000
Epidermolysis Bullosa Simplex 2E, With Migratory Circinate Erythema
Erythema migrans OMIM:609352
Benign Chronic Pemphigus
Erythema OMIM:169600
Annular Erythema
Erythema OMIM:106500
Superficial Epidermolytic Ichthyosis
Edema, Acantholysis, Erythema, Palmoplantar keratoderma, Thin skin, Ichthyosis ORPHA:455
Behçet Disease
Myositis, Anorexia, Pulmonary embolism, Oral ulcer, Infectious encephalitis, Acne, Abdominal pain... ORPHA:117
Alstrom Syndrome
Elevated hepatic transaminase, Hepatic steatosis, Alopecia, Chronic active hepatitis, Hepatomegal... OMIM:203800
Cartilage-Hair Hypoplasia
Sparse facial hair, Neutropenia, Sparse hair, Neonatal short-limb short stature, Joint laxity, Co... OMIM:250250
Sneddon Syndrome
Cutis marmorata, Livedo reticularis, Livedo, Decreased circulating total IgM, Livedo racemosa, Ly... OMIM:182410
Hydatidiform Mole, Recurrent, 3
Female infertility OMIM:618431
Hydatidiform Mole, Recurrent, 4
Female infertility OMIM:618432
Anemia, Congenital Dyserythropoietic, Type Ib
Reticulocytosis, Hepatomegaly, Short stature, Anisocytosis, Anemia of inadequate production, Sple... OMIM:615631
Gaucher Disease
Osteopenia, Joint dislocation, Feeding difficulties in infancy, Osteoarthritis, Hydrops fetalis, ... ORPHA:355
Ifap Syndrome 2
Ichthyosis follicularis, Angular cheilitis, Keratitis, Posterior blepharitis, Keratoconjunctiviti... OMIM:619016
Linear Verrucous Nevus Syndrome
Hyperkeratosis, Sparse scalp hair, Genu recurvatum, Reduced bone mineral density ORPHA:2611
Albers-Schönberg Osteopetrosis
Abnormal leukocyte morphology, Joint dislocation, Osteomyelitis, Short stature, Recurrent fractur... ORPHA:53
Portal Hypertension, Noncirrhotic, 1
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Esophageal varix OMIM:617068
Immunodeficiency 13
Lymphopenia, Recurrent pneumonia, Decreased proportion of CD4-positive helper T cells, Bronchiect... OMIM:615518
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Impaired lymphocyte transformation with phytohemagglutinin, Decreased lymphocyte proliferation in... OMIM:619313
Immunodeficiency, Common Variable, 4
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... OMIM:613494
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Delayed eruption of teeth, Lymphopenia, Short stature, Eczema, Thrombocytopenia, Recurrent upper ... ORPHA:508542
Familial Papillary Or Follicular Thyroid Carcinoma
Recurrent fractures, Chronic noninfectious lymphadenopathy, Abnormal lymph node morphology, Colon... ORPHA:319487
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency
Alopecia, Progeroid facial appearance, Iridocyclitis, Ankle clonus, Hypogonadism, Oligomenorrhea,... ORPHA:412057
Systemic Lupus Erythematosus
Hemolytic anemia, Pericarditis, Lupus nephritis, Arthritis, Leukopenia, Pleuritis, Cutaneous phot... OMIM:152700
Cutaneous Telangiectasia And Cancer Syndrome, Familial
Ridged nail, Alopecia, Yellow nails, Onycholysis, Nail dystrophy, Sparse lateral eyebrow OMIM:614564
Bone Marrow Failure Syndrome 5
Short stature, Pure red cell aplasia, Erythroid hypoplasia, Decreased circulating antibody level,... OMIM:618165
Icf Syndrome
Recurrent respiratory infections, Epicanthus, Short stature, Abnormality of neutrophils, Protrudi... ORPHA:2268
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type
Hepatomegaly, Increased bone mineral density, Short stature, Polyhydramnios, Splenomegaly, Hydrop... ORPHA:2204
Lethal Hemolytic Anemia-Genital Anomalies Syndrome
Polyhydramnios, Splenomegaly, Respiratory insufficiency, Aplasia/Hypoplasia of the lungs, Thin ve... ORPHA:1046
Dyskeratosis Congenita, Autosomal Recessive 6
Alopecia, Carious teeth, Bone marrow hypocellularity, Nail dystrophy, Sparse hair, Intrauterine g... OMIM:616353
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Oral ulcer, Leukopenia, High palate, Hypoplasia of the thymus, Otitis media, Neutropenia, Hepatom... OMIM:612541
Autoinflammatory Syndrome, Familial, Behcet-Like 1
Anterior uveitis, Hemolytic anemia, Skin rash, Oral ulcer, Colitis, Ileal ulcer, Polyarticular ar... OMIM:616744
Acute Monoblastic/Monocytic Leukemia
Acute monocytic leukemia, Ankle swelling, Anorexia, Periorbital edema, Leukocytosis, Cervical lym... ORPHA:514
Polyposis of gastric fundus without polyposis coli
Abnormal gastric mucosa morphology, Multiple gastric polyps OMIM:175505
Localized Junctional Epidermolysis Bullosa
Sparse axillary hair, Sparse pubic hair, Scarring alopecia of scalp, Atrophic, patchy alopecia, N... ORPHA:251393
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia
Recurrent respiratory infections, Splenomegaly, Leukocytosis, Intraalveolar phospholipid accumula... OMIM:618042
Glutamine Deficiency, Congenital
Recurrent respiratory infections, Neonatal respiratory distress, Apnea, Erythema, Flexion contrac... OMIM:610015
Granulomatosis With Polyangiitis
Sinusitis, Periorbital edema, Granulomatosis, Otitis media, Cough, Abnormal oral cavity morpholog... ORPHA:900
Lambert Syndrome
Failure to thrive in infancy, Jaundice, Cholestasis, Decreased circulating antibody level, Wide m... ORPHA:1296
Mucopolysaccharidosis, Type Ii
Delayed eruption of teeth, Hepatomegaly, Ptosis, Severe short stature, Intestinal pseudo-obstruct... OMIM:309900
Urban-Rogers-Meyer Syndrome
Epicanthus, Abnormality of the philtrum, Recurrent fractures, Camptodactyly of finger, Short stat... ORPHA:3409
Ebola Hemorrhagic Fever
Gastrointestinal hemorrhage, Acute pancreatitis, Maculopapular exanthema, Poor appetite, Abdomina... ORPHA:319218
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia
Recurrent fractures, Chronic noninfectious lymphadenopathy, Abnormal lymph node morphology, Colon... ORPHA:97290
Oocyte/Zygote/Embryo Maturation Arrest 11
Female infertility OMIM:619643
Oocyte/Zygote/Embryo Maturation Arrest 6
Female infertility OMIM:618353
Progesterone Resistance
Female infertility OMIM:264080
Ciliary Dyskinesia, Primary, 14
Male infertility, Recurrent respiratory infections, Neonatal respiratory distress, Chronic bronch... OMIM:613807
Oocyte/Zygote/Embryo Maturation Arrest 15
Female infertility OMIM:616814
Oocyte/Zygote/Embryo Maturation Arrest 3
Female infertility OMIM:617712
Oocyte/Zygote/Embryo Maturation Arrest 7
Female infertility OMIM:618550
Oocyte/Zygote/Embryo Maturation Arrest 18
Female infertility OMIM:620332
Oocyte/Zygote/Embryo Maturation Arrest 19
Female infertility OMIM:620333
Oocyte/Zygote/Embryo Maturation Arrest 1
Female infertility OMIM:615774
Coach Syndrome 1
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Abnormal abdomen ... OMIM:216360
Wiedemann-Rautenstrauch Syndrome
Flexion contracture, Downturned corners of mouth, Hypoplasia of the thymus, Genu varum, Absent ey... OMIM:264090
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Microvesicular hepatic steatosis, High palate, Vomiting, Hepatic steatosis, Accessory spleen, Hep... OMIM:619418
Adiposis Dolorosa
Recurrent skin infections, Telangiectasia of the skin, Sparse axillary hair, Sparse pubic hair, D... ORPHA:36397
Menkes Disease
Sparse hair, Alopecia, Brittle hair, Cutis laxa OMIM:309400
Fabry Disease
Conjunctival telangiectasia, Anorexia, Lymphedema, Reduced bone mineral density, Emphysema, Achal... ORPHA:324
Ullrich Congenital Muscular Dystrophy 1
Joint laxity, Increased laxity of fingers, Respiratory insufficiency due to muscle weakness, Dist... OMIM:254090
Fixed Drug Eruption
Erythema, Crusting erythematous dermatitis, Oral ulcer, Stomatitis, Generalized abnormality of skin ORPHA:293812
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Skin rash, Cervical lymphadenopathy, Recurrent pneumonia, Decreased mean platelet volume, Bloody ... OMIM:617718
Pparg-Related Familial Partial Lipodystrophy
Hepatomegaly, Dysmenorrhea, Splenomegaly, Generalized hirsutism, Secondary amenorrhea, Primary am... ORPHA:79083
Erythema Elevatum Diutinum
Skin rash ORPHA:90000
Down Syndrome
Joint laxity, Epicanthus, Aganglionic megacolon, Prematurely aged appearance, Protruding tongue, ... ORPHA:870
Scrub Typhus
Nausea and vomiting, Anterior uveitis, Skin rash, Abdominal pain, Myocarditis, Splenomegaly, Dysp... ORPHA:83317
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate
Selective tooth agenesis, Conical tooth, Nasogastric tube feeding in infancy, Ankyloblepharon, Ec... OMIM:106260
Congenital Disorder Of Glycosylation, Type Iie
Low anterior hairline, Gastroesophageal reflux, Hepatomegaly, Short stature, Elevated circulating... OMIM:608779
Cholestasis, Progressive Familial Intrahepatic, 1
Osteopenia, Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Epistaxis, Short statu... OMIM:211600
Recessive X-Linked Ichthyosis
Cryptorchidism, Hyperkeratosis, Dry skin, Ichthyosis ORPHA:461
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Abnormal hemoglobin, Splenomegaly, Thrombocytopenia, Abnormal platelet function, Anemia ORPHA:231393
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Hepatomegaly, Thin upper lip vermilion, Redundant neck skin, Polyhydramnios, Postnatal growth ret... ORPHA:1655
Cerebroretinal Microangiopathy With Calcifications And Cysts 1
Osteopenia, Retinal telangiectasia, Premature graying of hair, Intestinal bleeding, Sparse hair, ... OMIM:612199
Dyskeratosis Congenita, Autosomal Dominant 6
Pancytopenia, Esophageal stenosis, Aplastic anemia, Abnormality of the dentition, Bone marrow hyp... OMIM:616553
Oculocerebrorenal Syndrome Of Lowe
Dental crowding, Feeding difficulties in infancy, Deep philtrum, Gingivitis, Dehydration, Periodo... ORPHA:534
Premature Ovarian Failure 19
Secondary amenorrhea, Premature ovarian insufficiency, Irregular menstruation, Female infertility OMIM:619245
Cranioectodermal Dysplasia 2
Unilateral ptosis, Cholangitis, Polyhydramnios, Hydrops fetalis, Ectodermal dysplasia, Fused teet... OMIM:613610
Anti-Glomerular Basement Membrane Disease
Persistence of primary teeth, Respiratory insufficiency, Arthritis, Cough, Anemia, Purpura ORPHA:375
Premature Aging Syndrome, Penttinen Type
Hyperextensibility of the knee, Palmoplantar hyperkeratosis, Shallow orbits, Sparse hair, Joint c... OMIM:601812
Kury-Isidor Syndrome
Ptosis, Alopecia, Tented upper lip vermilion, Feeding difficulties, Growth delay, High palate, Wi... OMIM:619762
Plummer-Vinson Syndrome
Tongue atrophy, Poor appetite, Concave nail, Abdominal pain, Intra-oral hyperpigmentation, Narrow... ORPHA:54028
Typhoid
Gastrointestinal hemorrhage, Hepatomegaly, Skin rash, Epistaxis, Abdominal pain, Splenomegaly, Di... ORPHA:99745
Autoimmune Polyendocrine Syndrome, Type Ii
Alopecia, Asplenia, Hepatitis, Chronic mucocutaneous candidiasis, Keratoconjunctivitis, Chronic h... OMIM:269200
Acrogeria
Short stature, Prematurely aged appearance, Telangiectasia of the skin, Skin ulcer, Fine hair, Ex... ORPHA:2500
Naxos Disease
Curly hair, Subungual hyperkeratosis, Epidermal acanthosis, Acantholysis, Sparse eyebrow, Cardiom... OMIM:601214
Listeriosis
Respiratory distress, Liver abscess, Stiff neck, Abnormal cellular immune system morphology, Gran... ORPHA:533
Vipoma
Anorexia, Poor appetite, Secretory diarrhea, Dehydration, Benign gastrointestinal tract tumors, H... ORPHA:97282
Acrokeratoelastoidosis Of Costa
Epidermal acanthosis, Hypergranulosis, Palmoplantar hyperkeratosis, Granulomatosis, Orthokeratosi... ORPHA:38
Subcutaneous Panniculitis-Like T-Cell Lymphoma
Skin ulcer, Weight loss, Hepatosplenomegaly, Panniculitis, Hemophagocytosis ORPHA:86884
Mucopolysaccharidosis, Type Iiic
Hepatomegaly, Joint stiffness, Splenomegaly, Synophrys, Diarrhea, Recurrent upper respiratory tra... OMIM:252930
Dubin-Johnson Syndrome
Hepatomegaly, Abdominal pain, Abnormal gastric mucosa morphology, Jaundice, Biliary tract abnorma... ORPHA:234
Noonan Syndrome 1
Amegakaryocytic thrombocytopenia, Lymphedema, Feeding difficulties in infancy, High, narrow palat... OMIM:163950
Lymphatic Malformation 4
Prominent superficial veins, Lymphedema, Pedal edema, Hydrocele testis, Hyperkeratosis, Toenail d... OMIM:615907
Isolated Pierre Robin Syndrome
Glossoptosis, Neonatal respiratory distress, Upper airway obstruction, Cleft palate ORPHA:718
Mucopolysaccharidosis, Type Vii
Flexion contracture, Hydrops fetalis, Coarse hair, Widely spaced teeth, Hepatomegaly, Short statu... OMIM:253220
Rigid Spine Syndrome
Hip contracture, Pneumonia, Abnormality on pulmonary function testing, Elbow flexion contracture,... ORPHA:97244
Williams Syndrome
Osteopenia, Redundant skin, Cardiomegaly, Hypoplastic toenails, Periorbital edema, Rectal prolaps... ORPHA:904
Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia
Polyhydramnios, Lymphedema, Deep philtrum, Finger joint hypermobility, Sparse hair, Long philtrum... OMIM:613563
Fanconi Anemia, Complementation Group F
Short stature, Pneumonia, Polyhydramnios, Thrombocytopenia, Patent ductus arteriosus, Cryptorchid... OMIM:603467
Irida Syndrome
Intrahepatic cholestasis, Hyperkeratosis, Abnormal intestine morphology, Pallor, Ichthyosis ORPHA:209981
Ankylosing Vertebral Hyperostosis With Tylosis
Osteoarthritis, Palmoplantar keratoderma, Obesity ORPHA:2206
Adams-Oliver Syndrome 5
Portal vein thrombosis, Splenomegaly, Hypersplenism, Hypoplastic toenails, Esophageal varix, Righ... OMIM:616028
Bronchial Neuroendocrine Tumor
Hepatomegaly, Chronic noninfectious lymphadenopathy, Pneumonia, Anorexia, Poor appetite, Nonprodu... ORPHA:97287
Anaplastic Thyroid Carcinoma
Respiratory distress, Cough, Dyspnea, Tracheoesophageal fistula, Upper airway obstruction, Lympha... ORPHA:142
Tuberculosis
Abnormal lung morphology, Weight loss, Cough ORPHA:3389
Thrombocytopenia With Elevated Serum Iga And Renal Disease
Glomerulonephritis, Thrombocytopenia, Increased circulating IgA level OMIM:314000
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ... ORPHA:231154
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Sideroblastic anemia, Brittle hair, Splenomegaly, Schistocytosis, Hypochromic microcytic anemia, ... OMIM:616084
Severe Generalized Junctional Epidermolysis Bullosa
Respiratory distress, Abnormal oral mucosa morphology, Edema, Paronychia, Dehydration, Gastrointe... ORPHA:79404
Aregenerative Anemia
Pancytopenia, Erythroid hypoplasia, Dyspnea, Reticulocytopenia, Bruising susceptibility, Lymphade... ORPHA:101096
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Epicanthus, Aplasia of the thymus, Short stature, Cleft lip, Patent ductus arteriosus, Low anteri... OMIM:618223
Gray Platelet Syndrome
Epistaxis, Abnormality of the menstrual cycle, Splenomegaly, Bruising susceptibility, Thrombocyto... ORPHA:721
Wilson Disease
Acute hepatic failure, Edema, Osteoarthritis, Pedal edema, Vomiting, Hepatic steatosis, Hemolytic... OMIM:277900
Yellow Fever
Acute pancreatitis, Increased circulating interleukin 6 concentration, Skin rash, Neutrophilia, E... ORPHA:99829
Intestinal Dysmotility Syndrome
Projectile vomiting, Polyhydramnios, Abdominal distention, Diarrhea, Decreased intestinal transit... OMIM:620045
Congenital Disorder Of Glycosylation, Type Iio
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Copper accumulation in liver, Hepatosp... OMIM:616828
Immunodeficiency 11A
Recurrent respiratory infections, Decreased proportion of CD4+CD25+ regulatory T cells, Decreased... OMIM:615206
Xeroderma Pigmentosum, Complementation Group F
Short stature, Erythema, Flexion contracture, Decreased body weight, Cutaneous photosensitivity OMIM:278760
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Elevated circulating aspartate aminotransferase concentration, Pruritus, Splenomegaly, Jaundice, ... OMIM:619658
Combined Immunodeficiency Due To Crac Channel Dysfunction
Hemolytic anemia, Hepatomegaly, Pneumonia, Splenomegaly, Lymphadenopathy, Amelogenesis imperfecta... ORPHA:169090
Generalized Pseudohypoaldosteronism Type 1
Osteomyelitis, Failure to thrive in infancy, Proportionate short stature, Pustule, Feeding diffic... ORPHA:171876
Ehlers-Danlos Syndrome, Classic-Like, 2
Osteopenia, Redundant skin, Osteoarthritis, Generalized joint laxity, Knee dislocation, Shoulder ... OMIM:618000
Immunodeficiency 42
Hepatomegaly, Splenomegaly, Recurrent cutaneous fungal infections, Hypoplasia of the thymus, Recu... OMIM:616622
Benign Recurrent Intrahepatic Cholestasis
Nausea and vomiting, Elevated hepatic transaminase, Anorexia, Abdominal pain, Pruritus, Jaundice,... ORPHA:65682
Rothmund-Thomson Syndrome, Type 2
Congenital hip dislocation, Premature graying of hair, Anteriorly placed anus, High palate, Spars... OMIM:268400
Monosomy 18P
Alopecia, Epicanthus, Short stature, Lymphedema, Carious teeth, Cleft palate, Low posterior hairl... ORPHA:1598
Trichothiodystrophy 7, Nonphotosensitive
Brittle hair, Ichthyosis, Congenital nonbullous ichthyosiform erythroderma, Follicular hyperkerat... OMIM:618546
Autoinflammation With Pulmonary And Cutaneous Vasculitis
Hepatomegaly, Splenomegaly, Recurrent upper respiratory tract infections, Anemia, Restrictive ven... OMIM:620296
Osteopetrosis, Autosomal Recessive 3
Extramedullary hematopoiesis, Short stature, Dental malocclusion, Diaphyseal sclerosis, Hepatospl... OMIM:259730
Ectodermal Dysplasia 15, Hypohidrotic/Hair Type
Sparse scalp hair, Sparse eyelashes, Eczema, Slow-growing hair, Pruritus, Palmoplantar keratoderm... OMIM:618535
Oculocerebrocutaneous Syndrome
Alopecia, Congenital hip dislocation, Cryptorchidism, Orbital cyst, Cleft palate, Eyelid coloboma OMIM:164180
Dubowitz Syndrome
Abnormality of neutrophils, Hypoplastic toenails, Rectal prolapse, Low anterior hairline, High pa... ORPHA:235
Sialuria
Smooth philtrum, Hepatomegaly, Thin upper lip vermilion, Epicanthus, Splenomegaly, Synophrys, Low... OMIM:269921
Trichohepatoenteric Syndrome 2
Hepatomegaly, Villous atrophy, Brittle hair, Small for gestational age, Diarrhea, Chronic diarrhe... OMIM:614602
Polycythemia Vera
Gastrointestinal hemorrhage, Hepatomegaly, Epistaxis, Portal hypertension, Pulmonary embolism, Pr... ORPHA:729
Leigh Syndrome
Ptosis, Alopecia, Multiple joint contractures, Eczema, Gastrointestinal dysmotility, Hepatic fail... ORPHA:506
Nk-Cell Enteropathy
Colonic diverticula, Duodenal ulcer, Edema, Abdominal pain, Abnormal gastric mucosa morphology, D... ORPHA:263665
Cold Agglutinin Disease
Nausea and vomiting, Hemolytic anemia, Hepatomegaly, Splenomegaly, Diarrhea, Lymphadenopathy, Pallor ORPHA:56425
Epilepsy-Telangiectasia Syndrome
Conjunctival telangiectasia, Short stature, Abnormality of the dentition, Decreased circulating a... ORPHA:1951
Hyperprolactinemia
Menorrhagia, Oligomenorrhea, Female infertility OMIM:615555
Cornelia De Lange Syndrome 1
High, narrow palate, Synophrys, Downturned corners of mouth, High palate, Gastroesophageal reflux... OMIM:122470
Turner Syndrome Due To Structural X Chromosome Anomalies
Osteopenia, Lymphedema, Hypoplastic toenails, High, narrow palate, Gastrointestinal inflammation,... ORPHA:99413
Mosaic Monosomy X
Osteopenia, Lymphedema, Hypoplastic toenails, High, narrow palate, Gastrointestinal inflammation,... ORPHA:99228
Monosomy X
Osteopenia, Lymphedema, Hypoplastic toenails, High, narrow palate, Gastrointestinal inflammation,... ORPHA:99226
Turner Syndrome
Osteopenia, Lymphedema, Hypoplastic toenails, High, narrow palate, Gastrointestinal inflammation,... ORPHA:881
Koolen-De Vries Syndrome Due To A Point Mutation
Joint dislocation, Nasogastric tube feeding in infancy, Ectodermal dysplasia, Joint laxity, Alope... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Joint dislocation, Nasogastric tube feeding in infancy, Ectodermal dysplasia, Joint laxity, Alope... ORPHA:363958
Simpson-Golabi-Behmel Syndrome
Congenital hip dislocation, Polyhydramnios, High, narrow palate, Hepatoblastoma, Hepatomegaly, Ve... ORPHA:373
Cholestasis, Progressive Familial Intrahepatic, 2
Hepatomegaly, Short stature, Pruritus, Intrahepatic cholestasis, Diarrhea, Splenomegaly, Intermit... OMIM:601847
Mucopolysaccharidosis, Type Iiib
Hepatomegaly, Cardiomegaly, Joint stiffness, Splenomegaly, Diarrhea, Synophrys, Recurrent upper r... OMIM:252920
Catastrophic Antiphospholipid Syndrome
Cutis marmorata, Pulmonary embolism, Myocarditis, Skin ulcer, Arthritis, Gastrointestinal infarct... ORPHA:464343
Primary Hepatic Neuroendocrine Carcinoma
Elevated hepatic transaminase, Hepatomegaly, Ptosis, Intrahepatic cholestasis with episodic jaund... ORPHA:100085
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1
Absence of Stensen duct, Selective tooth agenesis, Xerostomia, Ectodermal dysplasia, Oligodontia,... OMIM:129900
Agammaglobulinemia 1, Autosomal Recessive
Recurrent respiratory infections, Recurrent pneumonia, Chronic diarrhea, Bronchiectasis, Neutrope... OMIM:601495
Hemochromatosis, Type 4
Hepatomegaly, Osteoarthritis, Impotence, Cirrhosis, Hepatic steatosis, Anemia OMIM:606069
Pituitary Adenoma 4, Acth-Secreting
Striae distensae, Edema, Poor wound healing, Osteoporosis, Obesity, Facial erythema, Abdominal ob... OMIM:219090
Interstitial Lung Disease 2
Cough, Dyspnea, Elevated bronchoalveolar lavage fluid neutrophil proportion, Alveolar cell carcin... OMIM:178500
19Q13.11 Microdeletion Syndrome
Recurrent respiratory infections, Failure to thrive, Congenital hip dislocation, Supernumerary ni... ORPHA:217346
Oculogastrointestinal Muscular Dystrophy
Abnormality of the gastrointestinal tract, Spontaneous esophageal perforation, Intestinal pseudo-... ORPHA:1876
Methylmalonic Aciduria And Homocystinuria, Cblf Type
Hepatomegaly, Pancytopenia, Thin upper lip vermilion, Skin rash, Epicanthus, Small for gestationa... OMIM:277380
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome
Absent eyebrow, Alopecia, Sparse scalp hair, Sparse eyelashes, Polyhydramnios, Large for gestatio... ORPHA:544488
Tetrasomy 12P
Delayed eruption of teeth, Thin upper lip vermilion, Telecanthus, Short stature, Cachexia, Sparse... ORPHA:884
Hereditary Bullous Dystrophy, Macular Type
Alopecia, Congenital abnormal hair pattern, Pneumonia, Short stature, Cryptorchidism, Growth dela... ORPHA:1867
Mucopolysaccharidosis, Type Vi
Delayed eruption of teeth, Hepatomegaly, Short stature, Pneumonia, Joint stiffness, Carious teeth... OMIM:253200
Immunodeficiency 110 With Lymphoproliferation
Autoimmune hemolytic anemia, Recurrent skin infections, Recurrent pneumonia, Bronchiectasis, Chro... OMIM:614868
Mandibuloacral Dysplasia
Alopecia, Dental crowding, Increased subcutaneous truncal adipose tissue, Postnatal growth retard... ORPHA:2457
Hepatoerythropoietic Porphyria
Osteopenia, Edema, Scarring alopecia of scalp, Erythroid hyperplasia, Hemolytic anemia, Nonimmune... ORPHA:95159
Infection-Related Hemolytic Uremic Syndrome
Increased circulating interleukin 6 concentration, Edema, Intestinal perforation, Secretory diarr... ORPHA:544482
Oculoskeletodental Syndrome
Hepatomegaly, Epicanthus, Small for gestational age, Short stature, Splenomegaly, Cryptorchidism,... OMIM:618440
Immunodeficiency, Common Variable, 13
Pancytopenia, Polyhydramnios, Decreased circulating antibody level, Acute lymphoblastic leukemia,... OMIM:616873
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome
Epicanthus, Alopecia, Short stature, Accessory oral frenulum, Flexion contracture, Osteolysis inv... ORPHA:88630
Avian Influenza
Respiratory distress, Nonproductive cough, Tachypnea, Leukopenia, Conjunctivitis, Vomiting, Cough... ORPHA:454836
Immunodeficiency 26 With Or Without Neurologic Abnormalities
Thin upper lip vermilion, T lymphocytopenia, B lymphocytopenia, Recurrent aphthous stomatitis, Lo... OMIM:615966
Autosomal Recessive Malignant Osteopetrosis
Delayed eruption of teeth, Hepatomegaly, Recurrent respiratory infections, Apnea, Recurrent fract... ORPHA:667
Classical-Like Ehlers-Danlos Syndrome Type 2
Osteopenia, Joint dislocation, Redundant skin, Prominent veins on trunk, Knee dislocation, Should... ORPHA:536532
Neonatal Alloimmune Neutropenia
Jaundice, Neutropenia in presence of anti-neutropil antibodies, Pneumonia ORPHA:464370
Autosomal Recessive Polycystic Kidney Disease
Cholangitis, Biliary hyperplasia, Abnormal intrahepatic bile duct morphology, Protein-losing ente... ORPHA:731
Hemochromatosis, Type 2B
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Secondary amenorrhea, Hepatic fibrosis... OMIM:613313
Spondyloepimetaphyseal Dysplasia, Krakow Type
Ulnar deviation of the wrist, Allergic rhinitis, Eczema, Elbow contracture, Rhizomelia, Patent du... OMIM:618162
Yellow Nail Syndrome
Recurrent respiratory infections, Sinusitis, Abnormal fingernail morphology, Lymphedema, Yellow n... ORPHA:662
Gm1 Gangliosidosis Type 1
Thickened skin, Gingival overgrowth, Hydrops fetalis, Hepatosplenomegaly, Feeding difficulties, M... ORPHA:79255
Melkersson-Rosenthal Syndrome
Inflammatory abnormality of the skin, Cheilitis, Lymphadenopathy ORPHA:2483
X-Linked Sideroblastic Anemia
Elevated hepatic transaminase, Dyspnea, Splenomegaly, Pallor, Anemia ORPHA:75563
Warty Dyskeratoma
Abnormal fingernail morphology, Abnormality of the alveolar ridges, Acrokeratosis, Acantholysis, ... ORPHA:69745
Scedosporiosis
Unusual skin infection, Pericarditis, Arthralgia/arthritis, Sinusitis, Pneumonia, Osteomyelitis, ... ORPHA:449280
Dermatoosteolysis, Kirghizian Type
Tarsal synostosis, Abnormality of the dentition, Keratitis, Osteoarthritis, Osteolysis, Skin ulce... ORPHA:1657
Congenital Erythropoietic Porphyria
Osteopenia, Anisocytosis, Increased stool urobilinogen concentration, Edema, Scarring alopecia of... ORPHA:79277
Wild Type Abeta2M Amyloidosis
Gastrointestinal hemorrhage, Arthropathy, Intestinal pseudo-obstruction, Macroglossia, Arthritis,... ORPHA:85446
Mucopolysaccharidosis Type 1
Joint dislocation, Recurrent respiratory infections, Sinusitis, Apnea, Abnormality of the tonsils... ORPHA:579
Facioscapulohumeral Muscular Dystrophy 3, Digenic
Aspiration pneumonia OMIM:619477
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Plethora, Alopecia, Striae distensae, Acne, Dorsocervical fat pad, Osteoporosis, Increased body w... ORPHA:189427
Orofaciodigital Syndrome Type 1
Brittle hair, Reduced bone mineral density, Lobulated tongue, Coarse hair, High palate, Sparse ha... ORPHA:2750
Gcgr-Related Hyperglucagonemia
Neoplasm of the pancreas, Necrolytic migratory erythema, Abdominal pain, Zollinger-Ellison syndro... ORPHA:438274
Loeys-Dietz Syndrome 3
Osteoarthritis, Knee osteoarthritis, High palate, Bifid uvula, Joint laxity, Eosinophilic infiltr... OMIM:613795
Mednik Syndrome
Jejunal atresia, Diarrhea, Erythema, Cholestasis, Upslanted palpebral fissure, Growth delay, Hepa... OMIM:609313
Congenital Pulmonary Lymphangiectasia
Respiratory distress, Hepatomegaly, Cyanosis, Splenomegaly, Chronic pulmonary obstruction, Hydrop... ORPHA:2414
Severe Hemophilia A
Gastrointestinal hemorrhage, Limb joint contracture, Epistaxis, Poor wound healing, Limitation of... ORPHA:169802
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Osteopenia, Oral ulcer, Gingivitis, Inflammation of the large intestine, Periodontitis, Hepatic s... ORPHA:79259
Tyrosinemia Type 1
Acute hepatic failure, Hepatomegaly, Splenomegaly, Hepatocellular carcinoma, Rickets of the lower... ORPHA:882
Mucopolysaccharidosis, Type Ix
Hyperextensibility at elbow, Acetabular erosions, Short stature, Submucous cleft hard palate, Per... OMIM:601492
Hypercarotenemia And Vitamin A Deficiency, Autosomal Recessive
Follicular hyperkeratosis, Bitot spots of the conjunctiva OMIM:277350
Cholestasis-Lymphedema Syndrome
Gastrointestinal hemorrhage, Hepatomegaly, Nausea and vomiting, Portal hypertension, Lymphedema, ... ORPHA:1414
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hepatomegaly, Thrombocytopenia, Splenomegaly, Jaundice, Lymphadenopathy, Leukopenia, Hemophagocyt... OMIM:267700
Yao Syndrome
Inflammatory abnormality of the skin, Pericarditis, Skin rash, Abdominal pain, Diarrhea, Asthma, ... OMIM:617321
Brachydactylous Dwarfism, Mseleni Type
Osteopenia, Increased inflammatory response, Severe short stature, Protrusio acetabuli, Knee oste... ORPHA:2619
Osteootohepatoenteric Syndrome
Ileoileal intussusception, Villous atrophy, Increased intestinal transit time, Recurrent fracture... OMIM:619377
Lymphatic Malformation 12
Neonatal respiratory distress, Nonimmune hydrops fetalis, Fetal ascites, Polyhydramnios, Lymphede... OMIM:620014
Fucosidosis
Hepatomegaly, Recurrent respiratory infections, Failure to thrive, Petechiae, Short stature, Angi... OMIM:230000
Cartilage-Hair Hypoplasia
Hepatomegaly, Epicanthus, Abnormally ossified vertebrae, Aganglionic megacolon, Rhizomelia, Malab... ORPHA:175
Ehlers-Danlos Syndrome, Dermatosparaxis Type
Osteopenia, Redundant skin, Joint laxity, Short stature, Gingival overgrowth, Gingival hyperkerat... OMIM:225410
Focal Facial Dermal Dysplasia Type Iv
Abnormal mast cell morphology, Abnormal epidermal morphology, Cleft palate, Cleft upper lip ORPHA:398189
Immunodeficiency 81
Decreased proportion of CD4-positive T cells, Recurrent cutaneous abscess formation, Autoimmune h... OMIM:619374
Amoebiasis Due To Entamoeba Histolytica
Elevated hepatic transaminase, Intestinal obstruction, Liver abscess, Lung abscess, Abdominal pai... ORPHA:67
Flynn-Aird Syndrome
Alopecia, Cachexia, Joint stiffness, Carious teeth, Skin ulcer ORPHA:2047
Hurler-Scheie Syndrome
Hepatomegaly, Recurrent respiratory infections, Short stature, Camptodactyly of finger, Joint sti... OMIM:607015
Melkersson-Rosenthal Syndrome
Facial edema, Furrowed tongue OMIM:155900
Mucopolysaccharidosis, Type Iiid
Synophrys, Coarse hair, Hepatomegaly, Short stature, Thick vermilion border, Tube feeding, Hirsut... OMIM:252940
Cohen Syndrome
Abnormal eyelid morphology, Feeding difficulties in infancy, High, narrow palate, Low anterior ha... ORPHA:193
Neutral Lipid Storage Disease With Ichthyosis
Elevated hepatic transaminase, Hepatomegaly, Alopecia, Ectropion, Short stature, Micronodular cir... ORPHA:98907
Staphylococcal Necrotizing Pneumonia
Respiratory distress, Neutrophilia, Pneumonia, Nonproductive cough, Leukocytosis, Pneumothorax, T... ORPHA:36238
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome
Alopecia, Telecanthus, Abnormality of the dentition, Conical tooth, Cryptorchidism, Fine hair, Up... ORPHA:228390
Pediatric-Onset Graves Disease
Episcleritis, Hepatomegaly, Nausea and vomiting, Elevated hepatic transaminase, Craniosynostosis,... ORPHA:525731
Cholestasis, Progressive Familial Intrahepatic, 3
Elevated hepatic transaminase, Hepatomegaly, Malabsorption, Pruritus, Intrahepatic cholestasis, D... OMIM:602347
Laryngotracheoesophageal Cleft Type 4
Cachexia, Abnormality of the spleen, Abnormal mesentery morphology, Tracheoesophageal fistula, Re... ORPHA:93941
Peroxisome Biogenesis Disorder 8A (Zellweger)
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Feeding difficulties... OMIM:614876
Lysinuric Protein Intolerance
Leukopenia, Vomiting, Sparse hair, Nausea, Hepatomegaly, Short stature, Osteoporosis, Respiratory... OMIM:222700
Trichothiodystrophy 5, Nonphotosensitive
Brittle hair, Slow-growing hair, Short stature, Progeroid facial appearance, Cutis marmorata, Spa... OMIM:300953
Overlap Myositis
Elevated hepatic transaminase, Subluxation of the small joints of the hand, Sclerodactyly, Abnorm... ORPHA:206572
Granulomatosis With Polyangiitis
Episcleritis, Sinusitis, Diffuse alveolar hemorrhage, Keratitis, Oral ulcer, Uveitis, Skin ulcer,... OMIM:608710
Alpha-Mannosidosis, Adult Form
Osteopenia, Pancytopenia, Pneumonia, Hepatosplenomegaly, Macroglossia, Recurrent gastroenteritis ORPHA:309288
Diffuse Cutaneous Systemic Sclerosis
Nausea and vomiting, Dyspareunia, Telangiectasia of the skin, Malabsorption, Carious teeth, Dyspn... ORPHA:220393
Hypomelanosis Of Ito
Alopecia OMIM:300337
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form
Osteopenia, Flexion contracture, Gastrointestinal inflammation, Iron deficiency anemia, Gastroeso... ORPHA:79408
Brachyolmia Type 4 With Mild Epiphyseal And Metaphyseal Changes
Acne OMIM:612847
Grubben-De Cock-Borghgraef Syndrome
Eczema ORPHA:2101
Imerslund-Gräsbeck Syndrome
Reticulocytosis, Macrocytic anemia, Pancytopenia, Angular cheilitis, Poor appetite, Megaloblastic... ORPHA:35858
Mandibuloacral Dysplasia With Type A Lipodystrophy
Osteopenia, Dental crowding, Flexion contracture, High palate, Acanthosis nigricans, Premature lo... OMIM:248370
Mucopolysaccharidosis, Type Iiia
Hepatomegaly, Joint stiffness, Splenomegaly, Diarrhea, Synophrys, Recurrent upper respiratory tra... OMIM:252900
Trichorhinophalangeal Syndrome, Type I
Osteopenia, Osteoarthritis, Deep philtrum, Sparse hair, Microdontia, Short stature, Thin nail, Co... OMIM:190350
Neuroendocrine Tumor Of Stomach
Anorexia, Poor appetite, Lack of bowel sounds, Bloody diarrhea, Iron deficiency anemia, Zollinger... ORPHA:100075
Mucopolysaccharidosis Type 3
Adenoiditis, Cardiomegaly, Synophrys, Flexion contracture, Reduced bone mineral density, Coarse h... ORPHA:581
Bresek Syndrome
Alopecia, Aganglionic megacolon, Cryptorchidism, Cleft palate, Growth delay, Ichthyosis, Intraute... ORPHA:85284
Alopecia Antibody Deficiency
Recurrent respiratory infections, Abnormality of dental color, Short stature, Abnormal eyelash mo... ORPHA:1006
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Anisocytosis, Cardiomegaly, Microvesicular hepatic steatosis, Tachypnea, Hepatocellular necrosis,... OMIM:618278
Fanconi Anemia, Complementation Group D2
Pancytopenia, Anemic pallor, Small for gestational age, Short stature, Hypergonadotropic hypogona... OMIM:227646
Immunodeficiency 56
Recurrent infection of the gastrointestinal tract, Recurrent respiratory infections, Cholangitis,... OMIM:615207
Kaposiform Lymphangiomatosis
Abnormal lung morphology, Cough, Ecchymosis, Pericardial effusion, Hepatosplenomegaly, Abnormal s... ORPHA:464329
Feingold Syndrome
Short stature, Esophageal atresia, Abnormality of the spleen, Patent ductus arteriosus, Orofacial... ORPHA:1305
Mednik Syndrome
Hyperkeratosis, Intrahepatic cholestasis, Abnormal intestine morphology, Ichthyosis ORPHA:171851
Corneodermatoosseous Syndrome
Severe short stature, Abnormal fingernail morphology, Abnormal dental enamel morphology, Carious ... ORPHA:3194
Limited Cutaneous Systemic Sclerosis
Nausea and vomiting, Foot joint contracture, Telangiectasia of the skin, Skin ulcer, Gastroesopha... ORPHA:220402
Familial Pancreatic Carcinoma
Nausea and vomiting, Elevated hepatic transaminase, Pancreatic adenocarcinoma, Intestinal pseudo-... ORPHA:1333
Nestor-Guillermo Progeria Syndrome
Dental crowding, Limited elbow movement, Flexion contracture, Rib osteolysis, Alopecia, Short sta... OMIM:614008
Van Den Bosch Syndrome
Recurrent skin infections ORPHA:3417
Alpha-Thalassemia-Myelodysplastic Syndrome
Microcytic anemia, Splenomegaly, Dyspnea, Acute leukemia, Neutropenia, Bruising susceptibility, H... ORPHA:231401
Glycogen Storage Disease Ib
Elevated hepatic transaminase, Hepatomegaly, Pancreatic fibrosis, Short stature, Hepatocellular c... OMIM:232220
Sitosterolemia 1
Reticulocytosis, Abdominal pain, Thrombocytopenia, Splenomegaly, Giant platelets, Arthritis, Xant... OMIM:210250
Autosomal Recessive Robinow Syndrome
Tented upper lip vermilion, Orofacial cleft, Downturned corners of mouth, Short philtrum, Chronic... ORPHA:1507
Loeys-Dietz Syndrome 2
Joint laxity, Spontaneous pneumothorax, Protrusio acetabuli, Eosinophilic infiltration of the eso... OMIM:610168
Angioedema, Hereditary, 1
Intestinal edema, Pharyngeal edema, Abdominal pain, Periorbital edema, Laryngeal edema, Diarrhea,... OMIM:106100
Muscular Hypertonia, Lethal
Respiratory distress, Pneumonia OMIM:254120
Loeys-Dietz Syndrome 1
Joint laxity, Eosinophilic infiltration of the esophagus, Craniosynostosis, Patent ductus arterio... OMIM:609192
Hb Bart'S Hydrops Fetalis
Hepatomegaly, Pericarditis, Abnormal hemoglobin, Polyhydramnios, Splenomegaly, Hydrops fetalis, P... ORPHA:163596
Behcet Syndrome
Erythema nodosum, Iridocyclitis, Epididymitis, Erythema, Oral ulcer, Arthritis, Patchy alopecia, ... OMIM:109650
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome
Increased circulating IgE level, Dental malocclusion, Short stature, Abnormality of the dentition ORPHA:1858
Secondary Short Bowel Syndrome
Abnormal small intestine morphology, Villous atrophy, Aganglionic megacolon, Small intestinal dys... ORPHA:95427
Congenital Sialidosis Type 2
Hepatomegaly, Edema, Protruding tongue, Respiratory tract infection, Gingival overgrowth, Hepatos... ORPHA:93400
Diffuse Alveolar Hemorrhage
Respiratory failure requiring assisted ventilation, Cough, Dyspnea, Leukocytosis, Increased DLCO,... ORPHA:90060
Congenital Tufting Enteropathy
Villous atrophy, Abnormal small intestinal mucosa morphology, Elevated fecal osmolality, Malabsor... ORPHA:92050
Aicardi-Goutières Syndrome
Elevated hepatic transaminase, Myositis, Multiple joint contractures, Short stature, Chilblains, ... ORPHA:51
Gomez-Lopez-Hernandez Syndrome
Alopecia, Short stature, Craniosynostosis, Thin vermilion border, High palate, Wormian bones, Dow... OMIM:601853
Hypopigmentation, Organomegaly, And Delayed Myelination And Development
Hepatomegaly, Hypopigmentation of hair, Epicanthus, Short stature, Polyhydramnios, Splenomegaly, ... OMIM:618541
Sunct Syndrome
Palpebral edema, Rhinorrhea, Facial edema, Facial erythema, Flushing, Vomiting, Conjunctival hype... ORPHA:57145
Immunodeficiency 35
Recurrent respiratory infections, Increased circulating IgE level OMIM:611521
Infantile Osteopetrosis With Neuroaxonal Dysplasia
Increased skull ossification, Pneumonia ORPHA:85179
Satoyoshi Syndrome
Alopecia, Short stature, Malabsorption, Diarrhea, Osteolytic defects of the phalanges of the hand... OMIM:600705
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome
Delayed eruption of teeth, Epicanthus, Abnormal dental morphology, Eczema, Seborrheic dermatitis,... ORPHA:369950
Familial Peripheral Male-Limited Precocious Puberty
Acne ORPHA:3000
Diarrhea 5, With Tufting Enteropathy, Congenital
Villous atrophy, Small for gestational age, Arthritis, Crypt hyperplasia, Intractable diarrhea, F... OMIM:613217
Complex Regional Pain Syndrome
Abnormality of hair growth, Edema of the upper limbs, Slow-growing nails, Erythema, Pedal edema, ... ORPHA:83452
Ring Chromosome 21 Syndrome
Fused thoracic vertebrae, Short stature, Decreased circulating antibody level, Azoospermia, Infer... ORPHA:1445
Proteus Syndrome
Pulmonary embolism, Neoplasm of the thymus, Lymphedema, Abnormal lung lobation, Abnormality of th... ORPHA:744
Lysinuric Protein Intolerance
Osteopenia, Tubulointerstitial nephritis, Leukopenia, Vomiting, Hepatomegaly, Osteoporosis, Respi... ORPHA:470
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3
Absence of Stensen duct, Selective tooth agenesis, Xerostomia, Anteriorly placed anus, Ectodermal... OMIM:604292
Fryns Syndrome
Ectopic pancreatic tissue, Tented upper lip vermilion, Polyhydramnios, Large for gestational age,... OMIM:229850
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1
Osteopenia, Joint laxity, Contracture of the proximal interphalangeal joint of the 2nd finger, De... OMIM:130060
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)
Intestinal pseudo-obstruction, Cachexia, Malabsorption, Abdominal pain, Abdominal distention, Gas... OMIM:613662
Gm1-Gangliosidosis, Type I
Hepatomegaly, Severe short stature, Joint stiffness, Splenomegaly, Vacuolated lymphocytes, Gingiv... OMIM:230500
Tangier Disease
Hepatomegaly, Cicatricial ectropion, Splenomegaly, Nail dystrophy, Nail dysplasia, Left ventricul... OMIM:205400
Hemifacial Atrophy, Progressive
Patchy alopecia, Poliosis OMIM:141300
Combined Oxidative Phosphorylation Deficiency 51
Neonatal respiratory distress, Severe short stature, Small for gestational age, Growth delay, Res... OMIM:619057
Johnson Neuroectodermal Syndrome
Absent eyebrow, Alopecia, Severe short stature, Absent eyelashes, Carious teeth, Cleft palate, Ev... ORPHA:2316
Scleromyxedema
Abnormality of the gastrointestinal tract, Aged leonine appearance, Hypoperistalsis, Pruritus, Na... ORPHA:167635
Pseudo-Torch Syndrome 1
Elevated hepatic transaminase, Hepatomegaly, Petechiae, Splenomegaly, Jaundice, Cleft lip, Patent... OMIM:251290
Pigmented Nodular Adrenocortical Disease, Primary, 4
Osteopenia, Alopecia, Acne, Dorsocervical fat pad, Osteoporosis, Increased body weight, Bruising ... OMIM:615830
Hurler Syndrome
Hepatomegaly, Recurrent respiratory infections, Short stature, Joint stiffness, Splenomegaly, Bil... OMIM:607014
Thymic Carcinoma
Palpebral edema, Edema, Neoplasm of the thymus, Mediastinal lymphadenopathy, Dyspnea, Weight loss... ORPHA:99868
Gapo Syndrome
Delayed eruption of teeth, Alopecia, Sparse eyelashes, Palpebral edema, Short stature, Dysmenorrh... ORPHA:2067
Gapo Syndrome
Hepatomegaly, Alopecia, Epicanthus, Sparse eyelashes, Redundant skin, Delayed closure of the ante... OMIM:230740
Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb
Thin upper lip vermilion, Epicanthus, Short stature, Pierre-Robin sequence, Feeding difficulties,... OMIM:613604
Ciliary Dyskinesia, Primary, 1
Male infertility, Pneumonia, Asplenia, Atelectasis, Bronchiectasis, Immotile cilia, Chronic rhini... OMIM:244400
Fucosidosis
Hepatomegaly, Abnormality of the dentition, Cardiomegaly, Abnormality of the gallbladder, Vascula... ORPHA:349
Pemphigus Erythematosus
Malar rash, Oral ulcer, Acantholysis ORPHA:79480
Hallermann-Streiff Syndrome
High, narrow palate, Uveitis, Reduced bone mineral density, Glossoptosis, Sparse hair, Alopecia, ... ORPHA:2108
Rheumatoid Factor-Positive Polyarticular Juvenile Idiopathic Arthritis
Osteopenia, Symmetric polyarthritis, Limitation of joint mobility, Synovitis, Reduced bone minera... ORPHA:85435
Slc35A1-Cdg
Respiratory distress, Subcutaneous hemorrhage, Pneumonia, Giant platelets, Hypoxemia, Neutropenia... ORPHA:238459
Subacute Inflammatory Demyelinating Polyneuropathy
Limitation of movement at ankles, Leukocytosis, Increased circulating IgG level, Limited elbow fl... ORPHA:206594
Rajab Interstitial Lung Disease With Brain Calcifications 1
Osteopenia, Tachypnea, Reduced bone mineral density, Gastroesophageal reflux, High palate, Vomiti... OMIM:613658
Solar Urticaria
Edema, Pruritus, Dyspnea, Abnormal tongue morphology, Wheezing, Periorbital edema, Angioedema, Ur... ORPHA:97230
Ectodermal Dysplasia And Immunodeficiency 2
Sparse scalp hair, Hepatomegaly, Recurrent respiratory infections, Failure to thrive, Conical too... OMIM:612132
Mandibuloacral Dysplasia With Type B Lipodystrophy
Alopecia, Brittle hair, Dental crowding, Wormian bones, Decreased adipose tissue around neck, Pro... OMIM:608612
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome
Alopecia, Coarse hair, Brittle hair, Nail dystrophy ORPHA:75389
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome
Reduced subcutaneous adipose tissue, Alopecia, Limb joint contracture, Short stature, Hypogonadot... OMIM:612079
Hurler Syndrome
Hepatomegaly, Recurrent respiratory infections, Short stature, Abnormality of the tonsils, Campto... ORPHA:93473
Proliferating Trichilemmal Cyst
Sparse scalp hair, Skin ulcer ORPHA:492
Combined Immunodeficiency-Enteropathy Spectrum
Polyhydramnios, Bloody diarrhea, Hypoplasia of the thymus, Sparse hair, Hashimoto thyroiditis, Pe... ORPHA:436252
Hyperbilirubinemia, Shunt, Primary
Reticulocytosis, Hepatomegaly, Anemia of inadequate production, Splenomegaly, Jaundice, Erythroid... OMIM:237800
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3
Epicanthus, Cryptorchidism, Decreased circulating antibody level, Agammaglobulinemia, Intrauterin... OMIM:616910
Transketolase Deficiency
Hepatomegaly, Proportionate short stature, Seborrheic dermatitis, Patent ductus arteriosus, Uveit... ORPHA:488618
Neurodevelopmental Disorder With Epilepsy And Brain Atrophy
Polyhydramnios, Malnutrition, Osteoporosis, Feeding difficulties, Gastroesophageal reflux, Interm... OMIM:619971
Cd8 Deficiency, Familial
Absence of CD8-positive T cells, Recurrent respiratory infections, Bronchiectasis OMIM:608957
Adult-Onset Nemaline Myopathy
Reduced vital capacity, Respiratory insufficiency due to muscle weakness, Paraproteinemia, Neurom... ORPHA:171442
Alacrima, Achalasia, And Impaired Intellectual Development Syndrome
Neonatal respiratory distress, Esophageal stenosis, Feeding difficulties, Downturned corners of m... OMIM:615510
Erythroleukemia, Familial, Susceptibility To
Acute myeloid leukemia, Hepatomegaly, Splenomegaly, Anemia, Erythroid hyperplasia, Leukemia, Thro... OMIM:133180
Mcdonough Syndrome
Short stature, Cachexia, Open bite, Cryptorchidism, Synophrys, Dental malocclusion, Short philtru... ORPHA:2471
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Delayed epiphyseal ossification, Flexion contracture, Knee flexion contracture, Gastroesophageal ... OMIM:210710
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hepatomegaly, Splenomegaly, Growth delay, Decreased mean corpuscular volume, Azoospermia, Hypogon... OMIM:615234
Tropical Endomyocardial Fibrosis
Hepatomegaly, Increased circulating interleukin 6 concentration, Orthopnea, Eosinophilia, Cachexi... ORPHA:75565
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type
Smooth philtrum, Thin upper lip vermilion, Recurrent respiratory infections, Short stature, Diast... OMIM:300534
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia
Foot osteomyelitis, Acral ulceration, Skin ulcer ORPHA:139578
Ciliary Dyskinesia, Primary, 9
Male infertility, Neonatal respiratory distress, Pneumonia, Cough, Bronchiectasis, Decreased nasa... OMIM:612444
Mucolipidosis Ii Alpha/Beta
Osteopenia, Brittle hair, Cardiomegaly, Sparse hair, Progressive alveolar ridge hypertropy, Hepat... OMIM:252500
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Recurrent respiratory infections, Aganglionic megacolon, Malabsorption, Abnormality of the pancre... ORPHA:935
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Respiratory failure requiring assisted ventilation, Dyspnea, Nasogastric tube feeding in infancy,... ORPHA:90117
Familial Mediterranean Fever, Autosomal Dominant
Peritonitis, Erysipelas OMIM:134610
Anemia, Congenital Dyserythropoietic, Type Iv
Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti... OMIM:613673
Acquired Purpura Fulminans
Skin rash, Hepatic failure, Pyoderma gangrenosum, Macular purpura, Acrocyanosis, Thrombocytopenia ORPHA:49566
Cryptogenic Organizing Pneumonia
Respiratory distress, Bronchial breath sound, Neutrophilia, Cyanosis, Crackles, Anorexia, Nonprod... ORPHA:1302
Pseudoachondroplasia
Joint laxity, Limited hip extension, Joint stiffness, Distal joint laxity, Osteoarthritis, Delaye... ORPHA:750
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1
Gastrointestinal hemorrhage, Osteopenia, Epicanthus, Joint dislocation, Dental crowding, Congenit... OMIM:225400
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Gastrointestinal hemorrhage, Normocytic anemia, Skin rash, Pneumonia, Nodular regenerative hyperp... ORPHA:247691
Neuroendocrine Tumor Of The Rectum
Elevated hepatic transaminase, Hepatomegaly, Chronic noninfectious lymphadenopathy, Anorexia, Bow... ORPHA:100081
Neuroendocrine Tumor Of Anal Canal
Elevated hepatic transaminase, Hepatomegaly, Chronic noninfectious lymphadenopathy, Anorexia, Bow... ORPHA:100082
Ileal Neuroendocrine Tumor
Elevated hepatic transaminase, Intestinal fistula, Functional intestinal obstruction, Edema, Gast... ORPHA:100078
Cranio-Osteoarthropathy
Arthritis, Osteoarthritis, Eczema ORPHA:1525
African Trypanosomiasis
Conjunctivitis, Vomiting, Iritis, Nausea, Hepatomegaly, Alopecia, Lymphadenopathy, Hepatosplenome... ORPHA:3385
Gaucher Disease Type 3
Hepatomegaly, Pancytopenia, Recurrent respiratory infections, Increased bone mineral density, Per... ORPHA:77261
Polymyositis
Gastrointestinal hemorrhage, Hepatomegaly, Pericarditis, Anorexia, Abdominal pain, Abnormal pulmo... ORPHA:732
Ehlers-Danlos Syndrome, Classic Type, 1
Joint dislocation, Hyperextensibility of the finger joints, Epicanthus, Short stature, Joint hype... OMIM:130000
Neuroendocrine Tumor Of The Colon
Elevated hepatic transaminase, Hepatomegaly, Chronic noninfectious lymphadenopathy, Anorexia, Bow... ORPHA:100080
Female Infertility Due To Oocyte Meiotic Arrest
Abnormal spermatogenesis, Oocyte arrest at metaphase I, Abnormal meiosis, Female infertility ORPHA:488191
Short Syndrome
Alopecia, Telecanthus, Severe short stature, Abnormal dental enamel morphology, Poor appetite, Ab... ORPHA:3163
Kagami-Ogata Syndrome
Hepatomegaly, Polyhydramnios, Splenomegaly, Patent ductus arteriosus, Flexion contracture, Pulmon... OMIM:608149
X-Linked Centronuclear Myopathy
Respiratory distress, Recurrent respiratory infections, Respiratory failure requiring assisted ve... ORPHA:596
Darier-White Disease
Ridged nail, Acrokeratosis, Acantholysis, Pruritus, Enlargement of parotid gland, Subungual hyper... OMIM:124200
Hyperzincemia With Functional Zinc Depletion
Skin rash OMIM:601979
Mandibuloacral Dysplasia With Type A Lipodystrophy
Abnormal eyebrow morphology, Alopecia, Short stature, Prematurely aged appearance, Progeroid faci... ORPHA:90153
Inflammatory Bowel Disease (Crohn Disease) 1
Intestinal obstruction, Abdominal pain, Diarrhea, Aphthous ulcer, Ulcerative colitis, Weight loss... OMIM:266600
Pyruvate Kinase Deficiency Of Red Cells
Reticulocytosis, Decreased hemoglobin concentration, Hepatomegaly, Nonimmune hydrops fetalis, Red... OMIM:266200
Bazex-Dupre-Christol Syndrome
Eczema, Joint hypermobility, Trichorrhexis nodosa, Atopic dermatitis, Furrowed tongue, Coarse hai... OMIM:301845
Systemic Capillary Leak Syndrome
Pericarditis, Rhinorrhea, Abdominal pain, Myocarditis, Leukocytosis, Diarrhea, Cardiorespiratory ... ORPHA:188
Hypoglossia With Situs Inversus
Respiratory distress, Asplenia, Feeding difficulties in infancy, Malnutrition, Upper airway obstr... OMIM:612776
Peripheral Primitive Neuroectodermal Tumor
Neoplasm of the pancreas, Nausea and vomiting, Metrorrhagia, Pelvic mass, Anorexia, Pruritus, Abd... ORPHA:370348
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Reduced subcutaneous adipose tissue, Hepatomegaly, Acroosteolysis of distal phalanges (feet), Dys... ORPHA:280365
X-Linked Intellectual Disability, Cabezas Type
Epicanthus, Short stature, Camptodactyly of finger, Abnormal hair pattern, Cachexia, Open bite, S... ORPHA:85293
Cataract-Intellectual Disability-Hypogonadism Syndrome
Short stature, Hypogonadotropic hypogonadism, Prematurely aged appearance, Feeding difficulties i... ORPHA:1387
Ogden Syndrome
Redundant neck skin, Apnea, Redundant skin, Congenital hip dislocation, Abnormal eyelid morpholog... OMIM:300855
Thrombocytopenia 1
Eczema, Epistaxis, Increased circulating IgA level, Increased circulating IgE level, Decreased me... OMIM:313900
Chanarin-Dorfman Syndrome
Hepatomegaly, Alopecia, Everted lower lip vermilion, Congenital nonbullous ichthyosiform erythrod... OMIM:275630
Bile Acid Synthesis Defect, Congenital, 1
Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Intrahepatic cholestasis, Diar... OMIM:607765
Diarrhea 8, Secretory Sodium, Congenital
Polyhydramnios, Abdominal distention, Secretory diarrhea, Inflammation of the large intestine, El... OMIM:616868
Lelis Syndrome
Yellow nails, Carious teeth, Acanthosis nigricans, Absent lower eyelashes, Furrowed tongue, Palmo... ORPHA:140936
Vexas Syndrome
Inflammatory abnormality of the skin, Macrocytic anemia, Neutrophilic infiltration of the skin, C... OMIM:301054
Alpha-Thalassemia
Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Jaundice, ... ORPHA:846
Nijmegen Breakage Syndrome
Abnormal eyelid morphology, Deep philtrum, Anorectal anomaly, Low anterior hairline, Hemolytic an... ORPHA:647
Leprechaunism
Reduced subcutaneous adipose tissue, Hepatomegaly, Enlarged ovaries, Postnatal growth retardation... ORPHA:508
Adams-Oliver Syndrome 2
Alopecia, Cutis marmorata, Low anterior hairline, Narrow palpebral fissure, Small nail, Oligohydr... OMIM:614219
Amoebiasis Due To Free-Living Amoebae
Myocardial necrosis, Unusual skin infection, Increased red blood cell count, Sinusitis, Abnormali... ORPHA:68
3-Hydroxy-3-Methylglutaric Aciduria
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Apnea, Edema, Anorexia, Reye syn... ORPHA:20
Distal Deletion 12Q
High, narrow palate, Biliary atresia, Short stature, Esophageal atresia, Supernumerary tooth, Pat... ORPHA:96149
Osteopetrosis, Autosomal Recessive 4
Reticulocytosis, Hepatomegaly, Increased bone mineral density, Petechiae, Recurrent fractures, Sp... OMIM:611490
Addison Disease
Normocytic anemia, Nausea and vomiting, Failure to thrive, Premature ovarian insufficiency, Prima... ORPHA:85138
Short-Rib Thoracic Dysplasia 12
Hepatomegaly, Natal tooth, Median cleft lip, Epicanthus, Intestinal malrotation, Hamartoma of ton... OMIM:269860
Treacher-Collins Syndrome
Low anterior hairline, Glossoptosis, Eyelid coloboma, High palate, Hypoplasia of the thymus, Abno... ORPHA:861
Wiedemann-Rautenstrauch Syndrome
Osteopenia, Synophrys, Downturned corners of mouth, Short philtrum, Sparse hair, Acanthosis nigri... ORPHA:3455
Spondyloenchondrodysplasia
Delayed eruption of teeth, Pancytopenia, Autoimmune hemolytic anemia, Skin rash, Pneumonia, Short... ORPHA:1855
X-Linked Alport Syndrome-Diffuse Leiomyomatosis
Dyspepsia, Recurrent respiratory infections, Tracheobronchial leiomyomatosis, Esophageal stenosis... ORPHA:1018
Bartsocas-Papas Syndrome 1
Cicatricial lagophthalmos, Bilateral cryptorchidism, Flexion contracture, Ankyloblepharon, Pteryg... OMIM:263650
Combined Oxidative Phosphorylation Deficiency 53
Hepatomegaly, Osteomyelitis, Short stature, Abdominal distention, Hypochromic microcytic anemia, ... OMIM:619423
Erdheim-Chester Disease
Nausea and vomiting, Increased bone mineral density, Osteomyelitis, Skin rash, Hypogonadotropic h... ORPHA:35687
Mucopolysaccharidosis Type 6
Sinusitis, Joint stiffness, Splenomegaly, Thick lower lip vermilion, Recurrent upper respiratory ... ORPHA:583
Cholestasis, Progressive Familial Intrahepatic, 8
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Portal hypertension,... OMIM:619662
Parkes Weber Syndrome
Prominent superficial blood vessels, Scaling skin, Skin ulcer, Abnormal lymphatic vessel morphology ORPHA:90307
Acute Lung Injury
Respiratory distress, Acute pancreatitis, Increased circulating interleukin 6 concentration, Pneu... ORPHA:178320
Multiple Sulfatase Deficiency
Hepatomegaly, Thick eyebrow, Short stature, Joint stiffness, Splenomegaly, Coarse hair, Ichthyosi... ORPHA:585
Congenital Multicore Myopathy With External Ophthalmoplegia
Joint laxity, Recurrent respiratory infections, Tented upper lip vermilion, Pneumonia, Edema, Pol... ORPHA:98905
Nephroblastoma
Abdominal pain, Weight loss, Neoplasm of the lung, Neoplasm of the liver, Lymphadenopathy ORPHA:654
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome
Absent eyebrow, Alopecia, Short stature, Craniosynostosis, Absent eyelashes, Cryptorchidism, Feed... ORPHA:166035
Undifferentiated Pleomorphic Sarcoma
Abnormal peritoneum morphology, Anorexia, Weight loss ORPHA:2023
Multiple Epiphyseal Dysplasia Type 1
Abnormal acetabulum morphology, Joint stiffness, Osteoarthritis, Delayed epiphyseal ossification,... ORPHA:93308
Congenital Factor Xiii Deficiency
Epistaxis, Poor wound healing, Spontaneous hematomas, Inflammation of the large intestine, Menorr... ORPHA:331
Beta-Thalassemia, Dominant Inclusion Body Type
Hepatomegaly, Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Ery... OMIM:603902
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hepatomegaly, Portal hypertension, Hematemesis, Pancreatic cysts, Splenomegaly, Esophageal varix,... OMIM:263200
Cryptococcosis
Respiratory distress, Osteomyelitis, Lymphoid leukemia, Pneumonia, Nodular pattern on pulmonary H... ORPHA:1546
Autoimmune Interstitial Lung, Joint, And Kidney Disease
Dyspnea, Tachypnea, Abnormal pulmonary interstitial morphology, Crescentic glomerulonephritis, Ar... OMIM:616414
Congenital Disorder Of Glycosylation, Type Iig
Osteopenia, Feeding difficulties in infancy, Glossoptosis, High palate, Short stature, Rhizomelia... OMIM:611209
Hermansky-Pudlak Syndrome 9
Leukopenia, Recurrent skin infections, Thrombocytopenia OMIM:614171
Cole Disease
Epidermal acanthosis, Hypergranulosis, Punctate palmoplantar hyperkeratosis, Hyperkeratosis, Palm... OMIM:615522
Osteopetrosis, Autosomal Recessive 1
Hepatomegaly, Pancytopenia, Osteomyelitis, Increased bone mineral density, Craniosynostosis, Cari... OMIM:259700
Nail-Patella Syndrome
Flexion contracture, Patellar hypoplasia, Reduced bone mineral density, Knee flexion contracture,... ORPHA:2614
Ramon Syndrome
Delayed eruption of teeth, Short stature, Angiokeratoma, Gingival fibromatosis, Narrow palate, Te... OMIM:266270
Orofaciodigital Syndrome I
Dry hair, Lobulated tongue, High palate, Hepatic fibrosis, Sparse hair, Alopecia, Short stature, ... OMIM:311200
Inflammatory Pseudotumor Of The Liver
Elevated circulating aspartate aminotransferase concentration, Abdominal pain, Increased hepatiti... ORPHA:90003
Oocyte/Zygote/Embryo Maturation Arrest 17
Female infertility, Amenorrhea OMIM:620319
Oocyte/Zygote/Embryo Maturation Arrest 20
Female infertility, Amenorrhea OMIM:620383
Holocarboxylase Synthetase Deficiency
Alopecia, Skin rash, Feeding difficulties in infancy, Tachypnea, Vomiting, Thrombocytopenia, Hype... OMIM:253270
Desmosterolosis
Epicanthus, Increased bone mineral density, Severe short stature, Intestinal malrotation, Splenom... ORPHA:35107
Harderoporphyria
Hepatomegaly, Hemolytic anemia, Reticulocytosis, Splenomegaly, Increased fecal harderoporphyrin, ... OMIM:618892
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Reduced red cell pyruvate kinase ... ORPHA:766
Coronary Artery Disease, Autosomal Dominant 2
Osteoporosis, Gout OMIM:610947
Neuropathy, Hereditary Sensory And Autonomic, Type Vi
Neonatal respiratory distress, Apnea, Limited hip extension, Erythema, Flexion contracture, Feedi... OMIM:614653
Immunodeficiency 10
Autoimmune hemolytic anemia, Lymphadenopathy, Nail dysplasia, Thrombocytopenia, Amelogenesis impe... OMIM:612783
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Short stature, Dysmenorrhea, Postnatal growth retard... ORPHA:79240
Sapho Syndrome
Psoriasiform dermatitis, Acne, Osteomyelitis, Skin rash, Recurrent skin infections, Pustule, Mala... ORPHA:793
Fanconi Anemia
Abnormal eyelid morphology, Reduced bone mineral density, Leukopenia, Abnormality of the liver, H... ORPHA:84
Developmental Dysplasia Of The Hip 2
Hip osteoarthritis, Arthritis OMIM:615612
Immunodeficiency 33
Delayed eruption of teeth, Conical tooth, Increased circulating IgA level, Decreased circulating ... OMIM:300636
Osteopetrosis, Autosomal Recessive 8
Hepatomegaly, Splenomegaly, Feeding difficulties, Anemia, Osteopetrosis, Failure to thrive, Throm... OMIM:615085
Baller-Gerold Syndrome
Limited elbow movement, Patellar hypoplasia, Anteriorly placed anus, High palate, Bifid uvula, Sh... OMIM:218600
Keutel Syndrome
Recurrent respiratory infections, Alopecia, Short stature, Pulmonary artery stenosis, Recurrent s... ORPHA:85202
Mandibulofacial Dysostosis With Alopecia
Alopecia, Sparse eyelashes, Dental crowding, Delayed eruption of primary teeth, Lower eyelid colo... OMIM:616367
Riddle Syndrome
Decreased circulating IgG level, Dry skin, Short stature, Pulmonary fibrosis OMIM:611943
Refsum Disease
Splenomegaly, Respiratory insufficiency, Nail dysplasia, Ichthyosis, Dry skin, Ptosis ORPHA:773
Ciliary Dyskinesia, Primary, 37
Female infertility, Wheezing, Bronchiectasis, Chronic rhinitis, Rhinorrhea OMIM:617577
Woodhouse-Sakati Syndrome
Osteopenia, Alopecia, Premature ovarian insufficiency, Streak ovary, Growth delay, Abnormal sperm... ORPHA:3464
Malt Lymphoma
Nausea and vomiting, Recurrent respiratory infections, Abnormal nasolacrimal system morphology, A... ORPHA:52417
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2
Osteopenia, Thin upper lip vermilion, Epicanthus, Hip contracture, Failure to thrive in infancy, ... OMIM:616801
Spondyloepiphyseal Dysplasia Tarda
Increased inflammatory response, Increased bone mineral density, Osteoarthritis of the distal int... ORPHA:93284
Immunodeficiency 21
Osteomyelitis, Aplastic anemia, B lymphocytopenia, Neutropenia, Monocytopenia, Myeloid leukemia, ... OMIM:614172
Eosinophil Peroxidase Deficiency
Eosinophil nuclear hypersegmentation OMIM:261500
Leukocyte Adhesion Deficiency, Type I
Osteomyelitis, Poor wound healing, Leukocytosis, Chronic diarrhea, Skin ulcer, Chronic mucocutane... OMIM:116920
Asthma, Short Stature, And Elevated Iga
Asthma, Short stature, Increased circulating IgA level OMIM:208600
Bethlem Myopathy
Reduced maximal expiratory pressure, Hypoventilation, Multiple joint contractures, Interphalangea... ORPHA:610
Pachyonychia Congenita 2
Sparse scalp hair, Dry hair, Subungual hyperkeratosis, Natal tooth, Angular cheilitis, Sparse eye... OMIM:167210
Neuronal Intestinal Pseudoobstruction
Natal tooth, Patent ductus arteriosus, Malabsorption, Decreased circulating antibody level ORPHA:99811
Sclerosing Cholangitis, Neonatal
Hepatomegaly, Portal hypertension, Pruritus, Splenomegaly, Jaundice, Biliary cirrhosis, Cholestas... OMIM:617394
Bile Acid Synthesis Defect, Congenital, 3
Hepatomegaly, Failure to thrive, Elevated circulating aspartate aminotransferase concentration, I... OMIM:613812
Gm1-Gangliosidosis, Type Ii
Hepatomegaly, Protruding tongue, Joint stiffness, Splenomegaly, Narrow mouth, Patent ductus arter... OMIM:230600
Carcinoid Syndrome
Nausea and vomiting, Elevated hepatic transaminase, Chronic noninfectious lymphadenopathy, Asthma... ORPHA:100093
Reynolds Syndrome
Gastrointestinal hemorrhage, Hepatomegaly, Elevated hepatic transaminase, Pruritus, Erythema nodo... OMIM:613471
Alpha-Mannosidosis, Infantile Form
Osteopenia, Joint laxity, Pancytopenia, Pneumonia, Highly arched eyebrow, Joint stiffness, Cranio... ORPHA:309282
Feingold Syndrome 1
Accessory spleen, Epicanthus, Jejunal atresia, Polyhydramnios, Asplenia, Esophageal atresia, Gast... OMIM:164280
Fontaine Progeroid Syndrome
Redundant skin, High, narrow palate, Synophrys, Low anterior hairline, Anteriorly placed anus, Co... OMIM:612289
Thrombocytopenia With Beta-Thalassemia, X-Linked
Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Epistaxis, Increased mean pl... OMIM:314050
Microcephaly With Chemotactic Defect And Transient Hypogammaglobulinemia
Hypogonadism, Flexion contracture, Transient hypogammaglobulinemia of infancy, Patellar hypoplasia OMIM:251240
Abnormal Hair, Joint Laxity, And Developmental Delay
Alopecia, Fragile nails, Small nail, Pili torti, Trichorrhexis nodosa, Sparse lateral eyebrow OMIM:261990
Autoimmune Polyendocrinopathy Type 2
Alopecia ORPHA:3143
Multiple Epiphyseal Dysplasia Due To Collagen 9 Anomaly
Abnormality of the knee, Abnormality of the epiphyses of the elbow, Short stature, Osteoarthritis... ORPHA:166002
Medullary Thyroid Carcinoma
Diarrhea, Lymphadenopathy, Neoplasm of the lung, Abnormal liver parenchyma morphology, Weight los... ORPHA:1332
Aromatase Deficiency
Eunuchoid habitus, Osteopenia, Male infertility, Macroorchidism, postpubertal, Hypergonadotropic ... ORPHA:91
Limb-Mammary Syndrome
Absent lacrimal punctum, Alopecia, Psoriasiform dermatitis, Chronic irritative conjunctivitis, Ab... ORPHA:69085
Hereditary Orotic Aciduria
Recurrent respiratory infections, Impaired T cell function, Splenomegaly, Patent ductus arteriosu... ORPHA:30
Marshall-Smith Syndrome
Irregular dentition, Brittle hair, Apnea, Large sternal ossification centers, Bilateral cryptorch... OMIM:602535
Brooke-Spiegler Syndrome
Skin appendage neoplasm, Salivary gland neoplasm, Skin ulcer, Cylindroma, Abnormality of the subl... ORPHA:79493
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Rhizomelia, Short stature, Wide mouth, Hyperkeratosis, Short philtrum, Intrauterine growth retard... ORPHA:163966
Idiopathic Bronchiectasis
Crackles, Productive cough, Respiratory tract infection, Dyspnea, Wheezing, Emphysema, Cachexia, ... ORPHA:60033
Auriculocondylar Syndrome 2A
Respiratory distress, Dental crowding, Apnea, Narrow mouth, Mandibular condyle aplasia, Dental ma... OMIM:614669
Isolated Biliary Atresia
Elevated hepatic transaminase, Hepatomegaly, Small for gestational age, Pruritus, Atretic gallbla... ORPHA:30391
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Respiratory distress, Hepatomegaly, Inflammatory abnormality of the skin, Elevated hepatic transa... ORPHA:26793
Cholestasis, Progressive Familial Intrahepatic, 9
Hepatomegaly, Malformation of the hepatic ductal plate, Portal hypertension, Pruritus, Intrahepat... OMIM:619849
Glycogen Storage Disease Xii
Normocytic anemia, Hepatomegaly, Epicanthus, Short stature, Splenomegaly, Jaundice, Elevated circ... OMIM:611881
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency
Alopecia, Seborrheic dermatitis, Feeding difficulties, Vomiting, Failure to thrive OMIM:210210
Hartnup Disorder
Cutaneous photosensitivity, Glossitis, Short stature OMIM:234500
Coffin-Siris Syndrome
Low anterior hairline, Aspiration pneumonia, Hepatoblastoma, Joint laxity, Cryptorchidism, Patent... ORPHA:1465
Hermansky-Pudlak Syndrome 10
Hepatomegaly, Recurrent respiratory infections, Apnea, Albinism, Splenomegaly, Abnormal pulmonary... OMIM:617050
Ehlers-Danlos Syndrome, Hypermobility Type
Joint dislocation, Joint laxity, Striae distensae, Osteoarthritis, Joint hypermobility OMIM:130020
Urachal Cyst
Abdominal mass, Abscess, Abdominal pain, Leukocytosis, Peritonitis, Erythema ORPHA:488
Gaucher Disease, Type Ii
Hepatomegaly, Apnea, Cough, Thrombocytopenia, Splenomegaly, Feeding difficulties, Stridor, Gastro... OMIM:230900
Thymic Neuroendocrine Tumor
Osteopenia, Pancreatic islet cell adenoma, Chronic noninfectious lymphadenopathy, Neoplasm of the... ORPHA:97289
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Respiratory tract infection, Hypersensitivity pneumonitis, Nonproductive cough, Chronic pulmonary... ORPHA:79127
Epiphyseal Dysplasia, Multiple, 1
Severe short stature, Joint stiffness, Delayed epiphyseal ossification, Generalized joint laxity,... OMIM:132400
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Short stature, Gout, Neutropenia, Intrauterine growth retardation, Anemia OMIM:617056
Christianson Syndrome
Cachexia, Feeding difficulties in infancy, Joint hyperflexibility, Gastroesophageal reflux, Dysph... ORPHA:85278
Thrombocythemia 1
Splenomegaly, Impaired ADP-induced platelet aggregation, Impaired collagen-induced platelet aggre... OMIM:187950
Autosomal Dominant Robinow Syndrome
High, narrow palate, Abnormality of the gingiva, Downturned corners of mouth, Oligodontia, Short ... ORPHA:3107
Spondyloepimetaphyseal Dysplasia, Handigodu Type
Abnormality of the knee, Hip contracture, Severe short stature, Short stature, Protrusio acetabul... ORPHA:99642
Bare Lymphocyte Syndrome, Type I
Bronchiectasis, Skin ulcer, Bronchiolitis, Chronic otitis media, Emphysema, Chronic sinusitis, Re... OMIM:604571
Juvenile Sialidosis Type 2
Hepatomegaly, Protruding tongue, Generalized hypertrichosis, Gingival overgrowth, Hepatosplenomeg... ORPHA:93399
Kienbock Disease
Osteoarthritis, Limitation of joint mobility, Osteochondritis dissecans, Abnormality of the wrist ORPHA:97332
Epiphyseal Dysplasia, Multiple, 3
Osteoarthritis, Delayed epiphyseal ossification, Limited elbow extension, Limited knee extension,... OMIM:600969
Bartsocas-Papas Syndrome
Median cleft lip, Alopecia totalis, Hypoplastic toenails, Cleft palate, Ankyloblepharon, Sparse o... ORPHA:1234
Gjc2-Related Late-Onset Primary Lymphedema
Hypoplasia of lymphatic vessels, Recurrent skin infections, Abnormal lymphatic vessel morphology ORPHA:568051
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Reticulocytosis, HbS hemoglobin, Abdominal pain, Asplenia, Splenomegaly, Splenic infarction, Hypo... ORPHA:251380
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Impaired neutrophil bactericidal activity, Pigment gallstones, Spontaneous hemolytic crises, Sple... OMIM:613470
Multiple Epiphyseal Dysplasia, Beighton Type
Abnormal acetabulum morphology, Short stature, Joint stiffness, Osteoarthritis, Limitation of joi... ORPHA:166011
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Alopecia, Hypoplasia of eyelid, Intestinal malrotation, Cleft soft palate, Short stature, Leukocy... OMIM:619321
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
T lymphocytopenia DECIPHER:16
Senior-Boichis Syndrome
Elevated hepatic transaminase, Malformation of the hepatic ductal plate, Portal hypertension, Con... ORPHA:84081
Pearson Syndrome
Hydrops fetalis, Dehydration, Abnormality of the liver, Neutropenia, Hepatic steatosis, Reticuloc... ORPHA:699
Hutchinson-Gilford Progeria Syndrome
Prominent superficial blood vessels, Dental crowding, Short lingual frenulum, Osteoarthritis, Red... ORPHA:740
Laron Syndrome
Delayed eruption of teeth, Severe short stature, Prematurely aged appearance, Osteoarthritis, Abn... ORPHA:633
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Synophrys, High palate, Widely spaced teeth, Microdontia, Bifid uvula, Joint laxity, Prominent me... OMIM:612474
Autosomal Dominant Otospondylomegaepiphyseal Dysplasia
Glossoptosis, Osteoarthritis, Cleft palate, Long philtrum ORPHA:166100
Osteopetrosis, Autosomal Dominant 2
Recurrent fractures, Mandibular osteomyelitis, Fractures of the long bones, Generalized osteoscle... OMIM:166600
Cockayne Syndrome
Dry hair, Feeding difficulties in infancy, Congenital contracture, Gastroesophageal reflux, Hepat... ORPHA:191
Methylmalonic Acidemia With Homocystinuria Type Cblf
Skin rash, Megaloblastic anemia, Cleft palate, Feeding difficulties, Growth delay, Reduced number... ORPHA:79284
8P11.2 Deletion Syndrome
Hemolytic anemia, Epicanthus, Short stature, Hypogonadotropic hypogonadism, Splenomegaly, Patent ... ORPHA:251066
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Micronodular cirr... ORPHA:309854
Neuropathy, Hereditary Sensory, Type Iic
Short stature, Acral ulceration OMIM:614213
Hemorrhagic Fever-Renal Syndrome
Respiratory distress, Increased circulating interleukin 6 concentration, Acute tubulointerstitial... ORPHA:340
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Respiratory distress, Cachexia, Diarrhea, Weight loss, Feeding difficulties, Vomiting, Failure to... OMIM:612075
Systemic Lupus Erythematosus, Susceptibility To, 6
Pericarditis, Arthritis, Pleuritis, Cutaneous photosensitivity, Malar rash OMIM:609939
Peroxisome Biogenesis Disorder 5A (Zellweger)
Persistent open anterior fontanelle, Feeding difficulties in infancy, High palate, Intrahepatic b... OMIM:614866
Microphthalmia With Linear Skin Defects Syndrome
Respiratory distress, Severe short stature, Abnormal nasolacrimal system morphology, Abnormal den... ORPHA:2556
Bile Acid Synthesis Defect, Congenital, 5
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Iron de... OMIM:616278
Morgagni-Stewart-Morel Syndrome
Acne, Osteoarthritis, Osteoporosis, Obesity, Hirsutism ORPHA:77296
Epidermolysis Bullosa, Junctional 5B, With Pyloric Atresia
Polyhydramnios, Oral mucosal blisters, Esophageal atresia, Fragile skin, Congenital pyloric atres... OMIM:226730
Malignant Atrophic Papulosis
Gastrointestinal hemorrhage, Intestinal fistula, Nausea and vomiting, Telangiectasia of the skin,... ORPHA:679
Desbuquois Dysplasia 1
Joint dislocation, Joint laxity, Neonatal respiratory distress, Severe short stature, Phalangeal ... OMIM:251450
Thyroid Lymphoma
Respiratory distress, Dyspnea, Upper airway obstruction, Lymphadenopathy, Stridor, Dysphagia, Has... ORPHA:97285
Osteopetrosis, Autosomal Dominant 3
Osteopenia, Hepatomegaly, Recurrent fractures, Splenomegaly, Gingivitis, Premature loss of teeth,... OMIM:618107
Leukodystrophy, Hypomyelinating, 24
Severe short stature, Flexion contracture, B lymphocytopenia, Tongue fasciculations OMIM:619851
Spondyloarthropathy, Susceptibility To, 1
Anterior uveitis, Psoriasiform dermatitis, Oligoarthritis, Enthesitis, Inflammation of the large ... OMIM:106300
Congenital Tracheomalacia
Apnea, Cardiomegaly, Tracheobronchomalacia, Gastroesophageal reflux, Cough, Emphysema, Neonatal r... ORPHA:95430
Pachyonychia Congenita 1
Palmoplantar hyperkeratosis, Nail dystrophy, Follicular hyperkeratosis, Oral leukoplakia, Onychog... OMIM:167200
Beta-Ketothiolase Deficiency
Hepatomegaly, Edema, Anorexia, Leukocytosis, Diarrhea, Tachypnea, Dehydration, Weight loss, Vomit... ORPHA:134
Oculocerebrocutaneous Syndrome
Alopecia, Congenital hip dislocation, Abnormal fingernail morphology, Cryptorchidism, Orofacial c... ORPHA:1647
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Hypoplastic toenails, Synophrys, Downturned corners of mouth, Glossoptosis, High palate, Gastroes... ORPHA:444077
Scorpion Envenomation
Acute pancreatitis, Pulmonary edema, Elevated circulating aspartate aminotransferase concentratio... ORPHA:466677
Adult Acute Respiratory Distress Syndrome
Increased circulating interleukin 6 concentration, Pneumonia, Dyspnea, Abnormal circulating inter... ORPHA:70578
Linear Iga Dermatosis
Pruritus, Epistaxis, Inflammation of the large intestine, Oral ulcer ORPHA:46488
Autosomal Dominant Spastic Paraplegia Type 36
Arthritis ORPHA:320365
Angel-Shaped Phalangoepiphyseal Dysplasia
Hyperextensibility of the finger joints, Short stature, Premature osteoarthritis, Delayed ossific... OMIM:105835
Frontonasal Dysplasia 2
Telecanthus, Sparse eyelashes, Alopecia totalis, Craniosynostosis, Conical tooth, Sparse eyebrow,... OMIM:613451
Angel-Shaped Phalango-Epiphyseal Dysplasia
Delayed eruption of teeth, Short stature, Joint hyperflexibility, Hypodontia, Hip osteoarthritis ORPHA:63442
Melorheostosis
Increased bone mineral density, Joint stiffness, Lymphedema, Arthritis, Ectopic ossification in m... ORPHA:2485
Neuropathy, Congenital Hypomyelinating, 3
Epicanthus, Limb joint contracture, Cachexia, Polyhydramnios, Flexion contracture, Gingival overg... OMIM:618186
Gaisböck Syndrome
Plethora, Peptic ulcer, Overweight, Splenomegaly, Dyspnea, Increased mean corpuscular hemoglobin ... ORPHA:90041
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Portal hypertension, Feeding diff... OMIM:251880
Inflammatory Bowel Disease 13
Inflammation of the large intestine OMIM:612244
Inflammatory Bowel Disease (Crohn Disease) 19
Inflammation of the large intestine OMIM:612278
Osteoarthritis Susceptibility 3
Osteoarthritis, Osteoarthritis of the distal interphalangeal joint, Joint stiffness, Osteoarthrit... OMIM:607850
Vitamin D-Dependent Rickets, Type 2A
Delayed eruption of teeth, Epicanthus, Enlargement of the ankles, Recurrent fractures, Carious te... OMIM:277440
Familial Thrombocytosis
Acute myeloid leukemia, Pruritus, Splenomegaly, Chronic myelogenous leukemia, Weight loss, Pulmon... ORPHA:71493
Hereditary Sensory And Autonomic Neuropathy Type 4
Fasciitis, Painless fractures due to injury, Premature loss of teeth, Recurrent aspiration pneumo... ORPHA:642
Hemophagocytic Syndrome Associated With An Infection
Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Thrombocytopenia, Splenomegaly, Abnorm... ORPHA:158048
Hereditary Hemorrhagic Telangiectasia
Intestinal polyposis, Gastrointestinal hemorrhage, Conjunctival telangiectasia, Telangiectasia of... ORPHA:774
Osteoarthritis With Mild Chondrodysplasia
Heberden's node, Short stature, Joint stiffness, Knee osteoarthritis, Hip osteoarthritis OMIM:604864
Zimmermann-Laband Syndrome 1
Hyperextensibility of the finger joints, Synophrys, Low anterior hairline, Downturned corners of ... OMIM:135500
Smith-Lemli-Opitz Syndrome
Dental crowding, Gastrointestinal dysmotility, Abnormal lung lobation, Vomiting, Gastroesophageal... OMIM:270400
Dysspondyloenchondromatosis
Joint dislocation, Enlarged joints, Short stature, Osteoarthritis, Generalized joint laxity, Genu... ORPHA:85198
Malignant Peritoneal Mesothelioma
Abdominal pain, Dyspnea, Peritonitis, Ileus, Abdominal distention, Pedal edema, Weight loss, Ascites ORPHA:168811
Blepharophimosis, Ptosis, And Epicanthus Inversus
Telecanthus, Premature ovarian insufficiency, Highly arched eyebrow, Female infertility, Sparse p... OMIM:110100
Fanconi Anemia, Complementation Group B
Aplastic anemia, Hypergonadotropic hypogonadism, Esophageal atresia, Patent ductus arteriosus, Ab... OMIM:300514
Kyphoscoliotic Ehlers-Danlos Syndrome
Osteopenia, Epicanthus, Congenital hip dislocation, Short stature, Poor wound healing, Synophrys,... ORPHA:536545
Trichinellosis
Skin rash, Edema, Facial edema, Periorbital edema, Increased circulating IgE level, Conjunctiviti... ORPHA:863
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
Hemolytic anemia, Petechiae, Epistaxis, Increased mean platelet volume, Splenomegaly, Thrombocyto... OMIM:153670
Huntington Disease-Like 2
Weight loss ORPHA:98934
Orofaciodigital Syndrome Viii
Telecanthus, Median cleft lip, Short stature, Cleft palate, High palate, Recurrent aspiration pne... OMIM:300484
Mulibrey Nanism
Hepatomegaly, Short stature, Cachexia, Intrauterine growth retardation ORPHA:2576
Gallbladder Neuroendocrine Tumor
Chronic noninfectious lymphadenopathy, Anorexia, Biliary tract neoplasm, Abdominal distention, Ex... ORPHA:100086
Coffin-Siris Syndrome 1
Dry hair, Conical tooth, Feeding difficulties in infancy, High palate, Short philtrum, Microdonti... OMIM:135900
Hemoglobin E Disease
Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega... ORPHA:2133
Joubert Syndrome With Hepatic Defect
Elevated hepatic transaminase, Hepatomegaly, Apnea, Portal hypertension, Highly arched eyebrow, F... ORPHA:1454
Cockayne Syndrome A
Dry hair, Ivory epiphyses of the phalanges of the hand, Sparse hair, Hepatomegaly, Short stature,... OMIM:216400
Kcnq2-Related Epileptic Encephalopathy
Apnea, Feeding difficulties, Facial erythema, Pallor, Cerebral edema ORPHA:439218
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Abnormally ossified vertebrae, Intestinal malrotation, Splenomegaly, Upslanted palpebral fissure,... ORPHA:3035
Familial Benign Copper Deficiency
Acne ORPHA:1551
Blue Rubber Bleb Nevus
Skin rash ORPHA:1059
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Small for gestational age, Alopecia totalis, Pericardial effusion, Feeding difficulties in infanc... OMIM:618775
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Elevated hepatic transaminase, Hepatomegaly, Anisocytosis, Splenomegaly, Jaundice, Hepatosplenome... OMIM:616860
Lymphatic Malformation 6
Epicanthus, Genital edema, Short stature, Nonimmune hydrops fetalis, Edema, Lymphedema, Facial ed... OMIM:616843
Immunodeficiency 27B
Generalized lymphadenopathy, Osteomyelitis, Salmonella osteomyelitis OMIM:615978
Bile Acid Synthesis Defect, Congenital, 2
Elevated hepatic transaminase, Hepatomegaly, Intrahepatic cholestasis, Diarrhea, Jaundice, Spleno... OMIM:235555
Kdm5C-Related Syndromic X-Linked Intellectual Disability
Short stature, Camptodactyly of finger, Cryptorchidism, Patchy alopecia, High palate, Decreased t... ORPHA:85279
Bronchiolitis Obliterans With Obstructive Pulmonary Disease
Pneumonia, Reduced forced expiratory volume in one second, Respiratory tract infection, Dyspnea, ... ORPHA:1303
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Gastrointestinal hemorrhage, Hepatomegaly, Elevated hepatic transaminase, Failure to thrive in in... ORPHA:247598
Renal-Hepatic-Pancreatic Dysplasia 1
Hepatomegaly, Pancreatic fibrosis, Intestinal malrotation, Portal hypertension, Malformation of t... OMIM:208540
Ramos-Arroyo Syndrome
Respiratory distress, Sparse scalp hair, Severe short stature, Aganglionic megacolon, Keratitis, ... ORPHA:1051
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Osteopenia, Hepatomegaly, Thin upper lip vermilion, Epicanthus, Portal hypertension, Hiatus herni... OMIM:610199
Ornithine Transcarbamylase Deficiency
Splenomegaly, Pyloric stenosis, Hepatic failure ORPHA:664
Satoyoshi Syndrome
Abnormality of the knee, Short stature, Abnormal hair morphology, Abnormal joint morphology, Amen... ORPHA:3130
Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome
Arthropathy, Generalized morning stiffness, Arthritis, Congenital finger flexion contractures, Co... OMIM:208250
Myasthenic Syndrome, Congenital, 10
Respiratory insufficiency due to muscle weakness, Tongue atrophy, Reduced vital capacity, Ptosis OMIM:254300
Igg4-Related Retroperitoneal Fibrosis
Normocytic anemia, Nausea and vomiting, Deep dermal perivascular inflammatory infiltrate, Psorias... ORPHA:49041
Smith-Lemli-Opitz Syndrome
Polyhydramnios, Feeding difficulties in infancy, Abnormal lung lobation, Gastroesophageal reflux,... ORPHA:818
Classic Homocystinuria
Gastrointestinal hemorrhage, Sparse scalp hair, Hepatomegaly, Elevated hepatic transaminase, Dent... ORPHA:394
Mucopolysaccharidosis Type 2, Severe Form
Abnormal dental morphology, Camptodactyly of finger, Limitation of joint mobility, Short stature,... ORPHA:217085
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Reticulocytosis, Hepatomegaly, Splenomegaly, Jaundice, Conjunctival icterus, Increased mean corpu... OMIM:194380
Complement Factor I Deficiency
Recurrent skin infections, Glomerulonephritis, Pyelonephritis, Recurrent sinusitis, Recurrent oti... OMIM:610984
Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant
Premature osteoarthritis, Cleft palate, Pierre-Robin sequence OMIM:184840
Short Stature And Advanced Bone Age, With Or Without Early-Onset Osteoarthritis And/Or Osteochondritis Dissecans
Hip osteoarthritis, Premature osteoarthritis, Short stature, Osteochondritis dissecans OMIM:165800
Pachyonychia Congenita 3
Chapped lip, Plantar hyperkeratosis, Onychogryposis of toenails, Gingivitis, Furrowed tongue, Pal... OMIM:615726
Aplasia Cutis Congenita
Abnormality of bone mineral density, Skin ulcer ORPHA:1114
Schwartz-Jampel Syndrome
Apnea, Polyhydramnios, Feeding difficulties in infancy, Low anterior hairline, High palate, Decre... ORPHA:800
Triosephosphate Isomerase Deficiency
Normocytic anemia, Hemolytic anemia, Macrocytic anemia, Respiratory distress, Failure to thrive, ... OMIM:615512
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion
Respiratory distress, Ptosis, Telecanthus, Tented upper lip vermilion, Apnea, Hypoventilation, Pr... ORPHA:314655
Mucopolysaccharidosis Type 2, Attenuated Form
Abnormal dental morphology, Camptodactyly of finger, Limitation of joint mobility, Short stature,... ORPHA:217093
Peritoneal Cystic Mesothelioma
Dyspareunia, Metrorrhagia, Abdominal pain, Abdominal distention, Peritonitis, Weight loss, Consti... ORPHA:168816
Cockayne Syndrome B
Dry hair, Ivory epiphyses of the phalanges of the hand, Sparse hair, Hepatomegaly, Prematurely ag... OMIM:133540
Mohr-Tranebjaerg Syndrome
Agammaglobulinemia, Ankle clonus, Aspiration pneumonia, Dysphagia ORPHA:52368
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease
Abnormal eyebrow morphology, Hypopigmentation of hair, Hepatomegaly, Aganglionic megacolon, Telec... ORPHA:163746
Deafness-Genital Anomalies-Metacarpal And Metatarsal Synostosis Syndrome
Epicanthus, Alopecia, Supernumerary nipple, Abnormality of the dentition, Truncal obesity ORPHA:3224
Polycythemia Vera
Gastrointestinal hemorrhage, Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red bloo... OMIM:263300
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Osteopenia, Arthropathy, Sclerotic cranial sutures, Osteolysis involving bones of the upper limbs... ORPHA:371428
Hirschsprung Disease
Intestinal polyposis, Nausea and vomiting, Intestinal obstruction, Aganglionic megacolon, Failure... ORPHA:388
Congenital Factor Xii Deficiency
Penetrating foot ulcers ORPHA:330
Acute Adrenal Insufficiency
Normocytic anemia, Nausea and vomiting, Failure to thrive, Decreased female libido, Sparse axilla... ORPHA:95409
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Osteopenia, Abnormal eyebrow morphology, Alopecia, Thin upper lip vermilion, Sparse facial hair, ... ORPHA:2232
Glycogen Storage Disease Vii
Hemolytic anemia, Reticulocytosis, Jaundice, Reduced erythrocyte 2,3-diphosphoglycerate concentra... OMIM:232800
Kyphoscoliosis-Lateral Tongue Atrophy-Hereditary Spastic Paraplegia Syndrome
Knee flexion contracture, Tongue atrophy, Dysphagia ORPHA:496689
Epiphyseal Dysplasia, Multiple, 5
Short stature, Premature osteoarthritis, Genu valgum, Delayed ossification of carpal bones, Delay... OMIM:607078
Fibrodysplasia Ossificans Progressiva
Alopecia, Progressive cervical vertebral spine fusion, Ectopic ossification in tendon tissue, Ect... OMIM:135100
Cystic Fibrosis
Reduced forced expiratory volume in one second, Reduced forced vital capacity, Rectal prolapse, D... OMIM:219700
Aspartylglucosaminuria
Hepatomegaly, Recurrent respiratory infections, Macroorchidism, Malabsorption, Abnormality of the... ORPHA:93
Niemann-Pick Disease, Type C2
Hepatomegaly, Neonatal respiratory distress, Bone-marrow foam cells, Fetal ascites, Polyhydramnio... OMIM:607625
Cystinosis, Nephropathic
Male infertility, Hepatomegaly, Hypopigmentation of hair, Failure to thrive in infancy, Short sta... OMIM:219800
Chondrocalcinosis 2
Arthropathy, Polyarticular chondrocalcinosis, Osteoarthritis OMIM:118600
Gaucher Disease, Type I
Hepatomegaly, Pancytopenia, Epistaxis, Hypersplenism, Splenomegaly, Dyspnea, Abnormal pulmonary i... OMIM:230800
Anemia, Congenital Dyserythropoietic, Type Ia
Hemolytic anemia, Hepatomegaly, Reticulocytosis, Small for gestational age, Mild postnatal growth... OMIM:224120
6Q Terminal Deletion Syndrome
Joint laxity, Prominent metopic ridge, Highly arched eyebrow, High, narrow palate, Low anterior h... ORPHA:75857
Mandibuloacral Dysplasia Progeroid Syndrome
Osteopenia, Flexion contracture, Palmoplantar hyperkeratosis, High palate, Macrovesicular hepatic... OMIM:619127
Vascular Ehlers-Danlos Syndrome
Joint dislocation, Congenital hip dislocation, Redundant skin, High, narrow palate, Osteoarthriti... ORPHA:286
Peripheral Dysostosis
Osteoarthritis, Short stature, Joint stiffness ORPHA:1795
Kindler Syndrome
Ridged nail, Anal stenosis, Esophageal stenosis, Telangiectasia of the skin, Symblepharon, Cariou... OMIM:173650
Anemia, Congenital Dyserythropoietic, Type Ii
Reticulocytosis, Anemia of inadequate production, Splenomegaly, Jaundice, Cholelithiasis OMIM:224100
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Respiratory distress, Acute hepatic failure, Microvesicular hepatic steatosis, Osteomyelitis lead... OMIM:256810
Okamoto Syndrome
Redundant neck skin, Tented upper lip vermilion, Downturned corners of mouth, Gastroesophageal re... ORPHA:2729
Familial Avascular Necrosis Of Femoral Head
Hip osteoarthritis, Limited hip movement ORPHA:86820
Colchicine Poisoning
Respiratory distress, Alopecia, Myocarditis, Diarrhea, Leukocytosis, Cardiorespiratory arrest, De... ORPHA:31824
Hypochondroplasia
Osteoarthritis, Abnormality of the elbow, Joint hyperflexibility, Childhood onset short-limb shor... ORPHA:429
Ring Chromosome Y Syndrome
Male infertility, Streak ovary, Short stature, Unilateral cryptorchidism, Female infertility, Cry... ORPHA:261529
Basel-Vanagaite-Smirin-Yosef Syndrome
Epicanthus, Tented upper lip vermilion, Recurrent pneumonia, Cleft palate, Furrowed tongue, Pulmo... OMIM:616449
Chronic Hiccup
Malnutrition, Dehydration, Weight loss ORPHA:396
Moderate Hemophilia A
Gastrointestinal hemorrhage, Arthropathy, Hip contracture, Limitation of joint mobility, Synoviti... ORPHA:169805
Immunodeficiency 67
Transient neutropenia, Increased circulating IgE level, Liver abscess OMIM:607676
Meckel Syndrome, Type 1
Asplenia, Lobulated tongue, Accessory spleen, Malformation of the hepatic ductal plate, Cleft upp... OMIM:249000
Biliary, Renal, Neurologic, And Skeletal Syndrome
Osteopenia, Edema, Polyhydramnios, Knee dislocation, Gastroesophageal reflux, Hepatic fibrosis, I... OMIM:619534
Pulmonary Capillary Hemangiomatosis
Pulmonary edema, Cyanosis, Diffuse alveolar hemorrhage, Pericardial effusion, Mediastinal lymphad... ORPHA:199241
Apert Syndrome
Limited elbow movement, Delayed epiphyseal ossification, Shallow orbits, Chronic otitis media, Bi... OMIM:101200
Stuve-Wiedemann Syndrome 1
Enlarged joints, Apnea, Knee flexion contracture, Smooth tongue, Sparse hair, Pursed lips, Short ... OMIM:601559
Leukodystrophy, Hypomyelinating, 26, With Chondrodysplasia
Joint laxity, Short stature, Elbow dislocation, Pierre-Robin sequence, Advanced ossification of c... OMIM:620269
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive
Hip osteoarthritis, Osteoarthritis, Short stature OMIM:271600
Complement Factor B Deficiency
Peritonitis, Pneumonia, Decreased circulating complement factor B concentration OMIM:615561
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome
Premature ovarian insufficiency, Short stature, Female infertility, Reduced forced vital capacity... OMIM:619518
Fanconi Anemia, Complementation Group L
Esophageal atresia, Tracheoesophageal fistula, Cleft palate, Feeding difficulties, Anemia, Upslan... OMIM:614083
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3
High, narrow palate, Deep philtrum, Low anterior hairline, Downturned corners of mouth, Gastroeso... OMIM:619950
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome
Thin upper lip vermilion, Hip contracture, Tented upper lip vermilion, Short stature, Cachexia, N... ORPHA:371364
Lesch-Nyhan Syndrome
Anemia, Gout ORPHA:510
Granulomatous Disease, Chronic, Autosomal Recessive, 3
Colitis, Recurrent aphthous stomatitis, Recurrent sinusitis, Perioral eczema OMIM:613960
Marshall Syndrome
Sparse eyelashes, Short stature, Abnormality of the dentition, Sparse eyebrow, Osteoarthritis, Th... ORPHA:560
Pulmonary Alveolar Microlithiasis
Bronchitis, Nonproductive cough, Tachypnea, Oxygen desaturation on exertion, Hepatomegaly, Respir... ORPHA:60025
Stickler Syndrome Type 1
Joint hyperflexibility, Osteoarthritis, Cleft palate, Long philtrum ORPHA:90653
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Polyhydramnios, Asplenia, Abnormal lung lobation, Neonatal respiratory distress, Nonimmune hydrop... OMIM:265380
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Pancytopenia, Facial edema, Splenomegaly, Panniculitis, Hemophagocytosis, Anemia OMIM:618398
Fish-Eye Disease
Splenomegaly, Hepatomegaly, Lymphadenopathy ORPHA:79292
Adenocarcinoma Of The Anal Canal
Anal stenosis, Anal canal adenocarcinoma, Abdominal pain, Rectal prolapse, Skin ulcer, Lymphadeno... ORPHA:424016
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Alopecia OMIM:600785
Scheie Syndrome
Hepatomegaly, Joint stiffness, Splenomegaly, Limitation of joint mobility, Wide mouth, Rhinitis, ... ORPHA:93474
Hypocalcemic Vitamin D-Resistant Rickets
Joint dislocation, Alopecia, Short stature, Osteomalacia, Premature loss of primary teeth, Abnorm... ORPHA:93160
Fanconi Anemia, Complementation Group Q
Short stature, Esophageal atresia, Biliary atresia, Anteriorly placed anus, Growth delay, Bone ma... OMIM:615272
Riboflavin Transporter Deficiency
Cachexia, Respiratory insufficiency, Hypogonadism, Dysphagia, Ptosis ORPHA:97229
Grfoma
Anorexia, Poor appetite, Neoplasm of the thymus, Lack of bowel sounds, Zollinger-Ellison syndrome... ORPHA:97261
Hutchinson-Gilford Progeria Syndrome
Alopecia OMIM:176670
Robin Sequence-Oligodactyly Syndrome
Glossoptosis, Cleft palate, Abnormality of the dentition ORPHA:3104
Hyperpigmentation With Or Without Hypopigmentation, Familial Progressive
Hyperkeratosis OMIM:145250
Cowden Syndrome 5
Colonic diverticula, Thyroiditis, Palmoplantar hyperkeratosis, Furrowed tongue, Hamartomatous pol... OMIM:615108
Gray Platelet Syndrome
Impaired thrombin-induced platelet aggregation, Epistaxis, Abnormal number of alpha granules, Spl... OMIM:139090
Wild Type Attr Amyloidosis
Hepatomegaly, Bowel incontinence, Gastrointestinal dysmotility, Chronic diarrhea, Abnormal pulmon... ORPHA:330001
Hip Dysplasia, Beukes Type
Abnormal ossification involving the femoral head and neck, Osteoarthritis, Abnormality of bone mi... ORPHA:2114
Oligoarticular Juvenile Idiopathic Arthritis
Knee osteoarthritis, Oligoarthritis, Uveitis, Increased circulating interferon-gamma concentratio... ORPHA:85410
Distal Deletion 19P
Alopecia, Cleft palate, Decreased circulating antibody level, Joint hyperflexibility, Short philt... ORPHA:96129
Mowat-Wilson Syndrome
Dental crowding, Cleft hard palate, Asplenia, Gastrointestinal dysmotility, Flexion contracture, ... ORPHA:2152
Geleophysic Dysplasia 3
Hepatomegaly, Short stature, Pneumonia, Polyhydramnios, Limited elbow movement, Limited wrist mov... OMIM:617809
Felty Syndrome
Splenomegaly, Rheumatoid arthritis, Neutropenia OMIM:134750
Classic Pantothenate Kinase-Associated Neurodegeneration
Abnormality of the tongue, Dysphagia, Weight loss, Increased susceptibility to fractures, Aspirat... ORPHA:216866
Autoimmune Polyendocrinopathy Type 1
Alopecia, Abnormal fingernail morphology ORPHA:3453
Epiphyseal Dysplasia, Multiple, 6
Abnormality of the knee, Osteoarthritis OMIM:614135
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency
Pulmonary embolism, Skin ulcer, Thin skin, Subcutaneous hemorrhage, Purpura ORPHA:743
Kabuki Syndrome 1
Joint dislocation, Congenital hip dislocation, Feeding difficulties in infancy, High palate, Recu... OMIM:147920
Infantile Liver Failure Syndrome 3
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Abnormal acetabulum morpholog... OMIM:618641
Oculocutaneous Albinism Type 1A
Hyperkeratosis, Hypopigmentation of hair, Thickened skin, Albinism ORPHA:79431
Dehydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Cholelithiasis, Anemia of inadequate produc... ORPHA:3202
Spondyloepimetaphyseal Dysplasia, Shohat Type
Joint laxity, Severe short stature, Abdominal distention, Delayed epiphyseal ossification, Premat... ORPHA:93352
Leptospirosis
Respiratory distress, Hepatomegaly, Pericarditis, Nausea and vomiting, Skin rash, Conjunctival hy... ORPHA:509
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Polyhydramnios, Downturned corners of mouth, Gastroesophageal reflux, Sparse hair, Intrauterine g... OMIM:620186
Uremic Pruritus
Pruritus, Inflammatory abnormality of the skin, Recurrent skin infections ORPHA:94059
Tangier Disease
Orange discolored tonsils, Chronic noninfectious lymphadenopathy, Abdominal pain, Thrombocytopeni... ORPHA:31150
Mandibuloacral Dysplasia With Type B Lipodystrophy
Alopecia, Short stature, Prematurely aged appearance, Progeroid facial appearance, Abnormality of... ORPHA:90154
Mucopolysaccharidosis Type 7
Recurrent respiratory infections, Abnormal pleura morphology, Lymphedema, Joint stiffness, Spleno... ORPHA:584
Gracile Bone Dysplasia
Short stature, Asplenia, Decreased skull ossification, Ascites, Hypoplastic spleen, Failure to th... OMIM:602361
Buerger Disease
Acrocyanosis, Skin ulcer ORPHA:36258
Ane Syndrome
Alopecia, Multiple joint contractures, Short stature, Hypogonadotropic hypogonadism, Carious teet... ORPHA:157954
Atypical Pantothenate Kinase-Associated Neurodegeneration
Tongue atrophy, Dysphagia ORPHA:216873
Klatskin Tumor
Cholangiocarcinoma, Hepatomegaly, Abdominal pain, Jaundice, Extrahepatic cholestasis, Lymphadenop... ORPHA:99978
Beukes Hip Dysplasia
Osteoarthritis, Shallow acetabular fossae OMIM:142669
Basel-Vanagaite-Smirin-Yosef Syndrome
Sparse scalp hair, Epicanthus, Tented upper lip vermilion, Exaggerated cupid's bow, Sparse eyebro... ORPHA:464738
Spondyloepimetaphyseal Dysplasia, Irapa Type
Osteoarthritis, Limitation of joint mobility, Abnormal carpal morphology, Osteoporosis, Abnormal ... ORPHA:93351
Cowden Syndrome 6
Colonic diverticula, Thyroiditis, Palmoplantar hyperkeratosis, Furrowed tongue, Hamartomatous pol... OMIM:615109
Familial Calcium Pyrophosphate Deposition
Joint dislocation, Osteoarthritis, Limitation of joint mobility, Arthritis, Joint swelling, Chond... ORPHA:1416
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome
Tented upper lip vermilion, Feeding difficulties in infancy, Synophrys, High palate, Gastroesopha... ORPHA:280633
8P23.1 Microdeletion Syndrome
Epicanthus, Short stature, Cryptorchidism, Pulmonary artery stenosis, Patent ductus arteriosus, O... ORPHA:251071
Isolated Succinate-Coq Reductase Deficiency
Severe short stature, Proportionate short stature, Feeding difficulties in infancy, Knee flexion ... ORPHA:3208
Vici Syndrome
Decreased circulating IgG level, Recurrent respiratory infections, Short stature, Joint stiffness... ORPHA:1493
Spondyloepiphyseal Dysplasia, Nishimura Type
Recurrent respiratory infections, Osteoarthritis, Delayed epiphyseal ossification, Disproportiona... OMIM:618618
Cervical Hypertrichosis-Peripheral Neuropathy Syndrome
Osteomyelitis, Generalized hirsutism, Skin ulcer ORPHA:2218
Timothy Syndrome
Thin upper lip vermilion, Pneumonia, Bronchitis, Cardiomegaly, Patent ductus arteriosus, Microdon... OMIM:601005
Juvenile Polyposis Of Infancy
Gastrointestinal hemorrhage, Refractory anemia, Short stature, Subcutaneous lipoma, Cachexia, Abd... ORPHA:79076
Congenital Muscular Dystrophy Due To Lmna Mutation
Cachexia, Limitation of joint mobility, Flexion contracture, Respiratory insufficiency, Feeding d... ORPHA:157973
Facioscapulohumeral Muscular Dystrophy 1
Restrictive ventilatory defect, Tongue atrophy, Retinal telangiectasia, Dysphagia OMIM:158900
Otospondylomegaepiphyseal Dysplasia
Abnormally ossified vertebrae, Enlarged joints, Polyhydramnios, Osteoarthritis, Limitation of joi... ORPHA:1427
Parenteral Nutrition-Associated Cholestasis
Elevated hepatic transaminase, Hepatomegaly, Villous atrophy, Small for gestational age, Portal h... ORPHA:567983
Schimmelpenning-Feuerstein-Mims Syndrome
Osteopenia, Alopecia, Abnormality of dental color, Short stature, Recurrent fractures, Growth del... OMIM:163200
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Cachexia, Cardiomegaly, Diarrhea, Distal arthrogrypo... ORPHA:42
Progressive Osseous Heteroplasia
Osteoarthritis, Limitation of joint mobility, Ectopic ossification in muscle tissue ORPHA:2762
Spondyloepiphyseal Dysplasia, Kimberley Type
Osteoarthritis, Proportionate short stature ORPHA:93283
Progeroid Short Stature With Pigmented Nevi
Irregular dentition, Premature ovarian insufficiency, Small for gestational age, Allergic rhiniti... OMIM:176690
Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction
Recurrent respiratory infections, Neonatal respiratory distress, Hyperextensibility of the finger... OMIM:618356
Attrv30M Amyloidosis
Cardiomegaly, Diarrhea, Weight loss, Impotence, Constipation ORPHA:85447
Lymphangioleiomyomatosis
Gastrointestinal hemorrhage, Recurrent respiratory infections, Ungual fibroma, Retinal hamartoma,... ORPHA:538
Rabson-Mendenhall Syndrome
Reduced subcutaneous adipose tissue, Enlarged ovaries, Dental crowding, Thick hair, Short stature... ORPHA:769
Arthrogryposis, Distal, Type 5D
Tongue atrophy, Congenital hip dislocation, Short stature, Highly arched eyebrow, Lagophthalmos, ... OMIM:615065
Gastrointestinal Defects And Immunodeficiency Syndrome 2
Interstitial emphysema, Bronchiectasis, Knee flexion contracture, Inflammation of the large intes... OMIM:619708
Chondrocalcinosis 1
Osteoarthritis, Chondrocalcinosis OMIM:600668
Hermansky-Pudlak Syndrome 1
Hypopigmentation of hair, Epistaxis, Albinism, Abdominal pain, Hematochezia, Restrictive ventilat... OMIM:203300
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome
Premature ovarian insufficiency, Short stature, Camptodactyly of finger, Furrowed tongue, Truncal... ORPHA:2928
Osteoarthritis Susceptibility 2
Osteoarthritis, Heberden's node OMIM:140600
Opitz Gbbb Syndrome
Feeding difficulties in infancy, High palate, Recurrent aspiration pneumonia, Enlarged ovaries, P... ORPHA:2745
C3 Glomerulopathy
Decreased circulating complement C3 concentration, Membranoproliferative glomerulonephritis, Para... ORPHA:329918
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome
Respiratory distress, Sparse scalp hair, Recurrent respiratory infections, Neonatal respiratory d... OMIM:614748
Camurati-Engelmann Disease
Delayed eruption of teeth, Hepatomegaly, Cachexia, Anorexia, Carious teeth, Splenomegaly, Abnorma... ORPHA:1328
Sickle Cell Disease
Hemolytic anemia, Hepatomegaly, Cardiomegaly, Abdominal pain, Splenomegaly, Jaundice, Leukocytosi... OMIM:603903
Neutropenia, Severe Congenital, 2, Autosomal Dominant
Monocytosis, B lymphocytopenia, Neutropenia OMIM:613107
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 10
Osteoarthritis, Bruising susceptibility, Bronchiectasis, Joint hypermobility OMIM:620080
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Reticulocytosis, Anisocytosis, Abdominal pain, Splenomegaly, Leukocytosis, Jaundice, Pallor, Poik... OMIM:300908
Wolfram Syndrome
Gastrointestinal hemorrhage, Central apnea, Malabsorption, Joint stiffness, Feeding difficulties ... ORPHA:3463
Alström Syndrome
Respiratory distress, Abnormality of dental color, Hypoplasia of the Leydig cells, Gingivitis, Ga... ORPHA:64
Joubert Syndrome 18
Joint laxity, Trident pelvis, Cleft palate, Lobulated tongue, Intrahepatic biliary atresia, Campt... OMIM:614815
Huntington Disease
Abnormal libido, Weight loss, Decreased body mass index, Oral-pharyngeal dysphagia ORPHA:399
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Unilateral lung agenesis, Feeding difficulties in infancy, Gastrointestinal dysmotility, Downturn... ORPHA:500150
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2
Osteopenia, Epicanthus, Cleft soft palate, Polyhydramnios, Patent ductus arteriosus, Cutis laxa, ... OMIM:614557
Adrenoleukodystrophy
Alopecia, Hypogonadism, Impotence, Bowel incontinence OMIM:300100
Liver Failure, Infantile, Transient
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Feeding difficulties in infan... OMIM:613070
Drug-Induced Autoimmune Hemolytic Anemia
Splenomegaly, Autoimmune hemolytic anemia, Pallor, Exertional dyspnea ORPHA:90037
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Respiratory distress, Recurrent respiratory infections, Epicanthus, Abnormality of the philtrum, ... ORPHA:2759
Acromegaly
Acne, Palpebral edema, Abnormal fingernail morphology, Abnormality of the dentition, Dysmenorrhea... ORPHA:963
Stickler Syndrome, Type I
Arthropathy, Joint stiffness, Osteoarthritis, Submucous cleft hard palate, Pierre-Robin sequence,... OMIM:108300
Intrahepatic Cholestasis Of Pregnancy
Skin rash, Pruritus, Abnormality of the pancreas, Pruritus on foot, Jaundice, Cholecystitis, Palm... ORPHA:69665
Steinert Myotonic Dystrophy
Tented upper lip vermilion, Intestinal pseudo-obstruction, Polyhydramnios, Oral-pharyngeal dyspha... ORPHA:273
Helsmoortel-Van Der Aa Syndrome
High, narrow palate, Ectropion of lower eyelids, Oligodontia, Eyelid coloboma, Gastroesophageal r... OMIM:615873
Roifman-Chitayat Syndrome
Osteopenia, Lacrimal duct stenosis, Pneumonia, Thin lower lip vermilion, Arthritis OMIM:613328
Tetrasomy 9P
Joint dislocation, Myositis, Dental crowding, Biliary atresia, Downturned corners of mouth, High ... ORPHA:3310
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome
Osteoarthritis, Joint stiffness, Pulmonary embolism ORPHA:1345
Cirrhosis, Familial
Abdominal distention, Fulminant hepatitis, Jaundice, Esophageal varix, Biliary cirrhosis, Microno... OMIM:215600
Lenz-Majewski Hyperostotic Dwarfism
Hyperextensibility of the finger joints, Knee flexion contracture, Anteriorly placed anus, Sparse... OMIM:151050
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Normocytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Normochromic anemia, Cholecystitis, N... OMIM:235700
Tay-Sachs Disease
Hepatosplenomegaly, Ankle clonus, Aspiration pneumonia, Dysphagia, Limited knee extension, Limite... ORPHA:845
Cleidocranial Dysplasia
Delayed eruption of teeth, Recurrent respiratory infections, Sinusitis, Wormian bones, Abnormal d... ORPHA:1452
Lipodystrophy, Congenital Generalized, Type 2
Reduced subcutaneous adipose tissue, Hepatomegaly, Acute pancreatitis, Elevated hepatic transamin... OMIM:269700
Juvenile Neuronal Ceroid Lipofuscinosis
Apnea, Episodic tachypnea, Dysphagia, Aspiration pneumonia, Tube feeding ORPHA:79264
Tsh-Secreting Pituitary Adenoma
Osteopenia, Vomiting, Pallor, Male hypogonadism, Hypogonadotropic hypogonadism, Pericardial effus... ORPHA:91347
Glycogen Storage Disease Ixc
Elevated hepatic transaminase, Hepatomegaly, Postnatal growth retardation, Splenomegaly, Growth d... OMIM:613027
Autosomal Dominant Hypocalcemia
Alopecia, Abnormal fingernail morphology, Eczema, Abnormal pattern of respiration, Abdominal pain... ORPHA:428
Chondrodysplasia Punctata, Autosomal Dominant
Hip contracture, Hyperkeratosis with erythema, Moderate postnatal growth retardation, Knee flexio... OMIM:118650
Autoimmune Hemolytic Anemia, Warm Type
Autoimmune hemolytic anemia, Splenomegaly, Jaundice, Chronic lymphatic leukemia, Pallor, Exertion... ORPHA:90033
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Alopecia, Short stature, Acne, Irregular menstruation, Testicular adrenal rest tumor, Hirsutism ORPHA:90795
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Dental crowding, Cleft hard palate, Asplenia, Flexion contracture, Short philtrum, Abnormality of... ORPHA:261537
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Short stature, Esophageal atresia, Submucous cleft hard palate, Hypertrichosis, Tracheoesophageal... OMIM:619227
Slipped Femoral Capital Epiphyses
Hip osteoarthritis OMIM:182260
Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies
Thin upper lip vermilion, Short stature, Progeroid facial appearance, Upslanted palpebral fissure... OMIM:617763
Sponastrime Dysplasia
Delayed epiphyseal ossification, Generalized joint laxity, Ivory epiphyses of the phalanges of th... ORPHA:93357
Hereditary Elliptocytosis
Hemolytic anemia, Reticulocytosis, Abdominal pain, Abnormal erythrocyte morphology, Splenomegaly,... ORPHA:288
Glycogen Storage Disease Ic
Hepatomegaly, Hepatoblastoma, Cyclic neutropenia, Chronic pancreatitis, Spider hemangioma, Recurr... OMIM:232240
Spondyloepimetaphyseal Dysplasia, Irapa Type
Capitate-hamate fusion, Osteoarthritis, Disproportionate short-trunk short stature, Genu valgum, ... OMIM:271650
Niemann-Pick Disease Type C
Hepatomegaly, Bone-marrow foam cells, Fetal ascites, Splenomegaly, Jaundice, Abnormal lung morpho... ORPHA:646
Johanson-Blizzard Syndrome
Anteriorly placed anus, Downturned corners of mouth, Hepatic fibrosis, Hypoplasia of the primary ... OMIM:243800
Pancreatic Triacylglycerol Lipase Deficiency
Osteomalacia, Edema, Abdominal pain, Abdominal distention, Diarrhea, Osteoporosis, Rickets, Weigh... ORPHA:309031
Niemann-Pick Disease, Type C1
Hepatomegaly, Fatal liver failure in infancy, Bone-marrow foam cells, Fetal ascites, Splenomegaly... OMIM:257220
Trisomy 18
Epicanthus, Short stature, Camptodactyly of finger, Cachexia, Esophageal atresia, Non-midline cle... ORPHA:3380
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Osteopenia, Intestinal pseudo-obstruction, Feeding difficulties in infancy, High, narrow palate, ... ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Osteopenia, Intestinal pseudo-obstruction, Feeding difficulties in infancy, High, narrow palate, ... ORPHA:352665
Biotinidase Deficiency
Respiratory distress, Alopecia, Skin rash, Apnea, Conjunctivitis, Eczematoid dermatitis, Hyperven... ORPHA:79241
Yunis-Varon Syndrome
Redundant neck skin, Congenital hip dislocation, Polyhydramnios, Hydrops fetalis, Palmoplantar hy... OMIM:216340
Osteogenesis Imperfecta
Osteopenia, Abnormality of dental color, Osteoarthritis, Flexion contracture, Decreased skull oss... ORPHA:666
Cerebral Arteriopathy, Autosomal Recessive, With Subcortical Infarcts And Leukoencephalopathy
Alopecia OMIM:600142
Infant Acute Respiratory Distress Syndrome
Cyanosis, Pneumonia, Respiratory tract infection, Atelectasis, Nasal flaring, Tachypnea, Hypoxemi... ORPHA:70587
Blau Syndrome
Nongranulomatous uveitis, Pericarditis, Eczema, Camptodactyly of finger, Erythema nodosum, Synovi... OMIM:186580
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Osteopenia, Nasogastric tube feeding in infancy, Gastrointestinal dysmotility, Downturned corners... ORPHA:453499
Acute Panmyelosis With Myelofibrosis
Acute myeloid leukemia, Pancytopenia, Splenomegaly, Acute myelomonocytic leukemia, Bone marrow hy... ORPHA:86843
Lipodystrophy, Congenital Generalized, Type 1
Reduced subcutaneous adipose tissue, Hepatomegaly, Acute pancreatitis, Elevated hepatic transamin... OMIM:608594
Kanzaki Disease
Telangiectasia of the oral mucosa, Lymphedema, Thick lower lip vermilion, Lip telangiectasia, Tor... OMIM:609242
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Dental crowding, Polyhydramnios, Feeding difficulties in infancy, Nasogastric tube feeding in inf... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Dental crowding, Polyhydramnios, Feeding difficulties in infancy, Nasogastric tube feeding in inf... ORPHA:353277
Neuropathy, Hereditary Sensory And Autonomic, Type V
Arthropathy, Osteomyelitis, Recurrent fractures, Osteoarthritis, Diarrhea, Painless fractures due... OMIM:608654
Short Stature-Advanced Bone Age-Early-Onset Osteoarthritis Syndrome
Osteoarthritis ORPHA:435804
Ciliary Dyskinesia, Primary, 42
Pneumonia, Reduced forced vital capacity, Chronic pulmonary obstruction, Bronchiectasis, Respirat... OMIM:618695
Non-Functioning Paraganglioma
Episodic abdominal pain, Weight loss, Pallor, Nausea, Flushing ORPHA:94080
Primary Triglyceride Deposit Cardiomyovasculopathy
Hepatomegaly, Inflammatory abnormality of the skin, Splenomegaly, Dyspnea, Vacuolated lymphocytes... ORPHA:565612
Robinow Syndrome, Autosomal Dominant 3
Epicanthus, Telecanthus, Short stature, Cleft lip, Patent ductus arteriosus, Cryptorchidism, Dent... OMIM:616894
Coffin-Siris Syndrome 11
Prominent metopic ridge, Cleft soft palate, Feeding difficulties in infancy, Esophageal atresia, ... OMIM:618779
Arboleda-Tham Syndrome
Respiratory distress, Bilateral cryptorchidism, Downturned corners of mouth, Conjunctivitis, Gast... OMIM:616268
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal
Premature loss of permanent teeth, Orthokeratotic hyperkeratosis, Palmoplantar keratoderma, Nail ... OMIM:610644
Hartnup Disease
Glossitis, Skin rash, Short stature, Malabsorption, Gingivitis, Cutaneous photosensitivity, Infec... ORPHA:2116
Phosphoribosylpyrophosphate Synthetase Superactivity
Epicanthus, Small for gestational age, Short stature, Cryptorchidism, Gout, Wide mouth, High pala... OMIM:300661
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Dental crowding, Cleft hard palate, Asplenia, Flexion contracture, Short philtrum, Abnormality of... ORPHA:261552
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy
Telecanthus, Camptodactyly of finger, Polyhydramnios, Cachexia, Wrist swelling, Limitation of joi... ORPHA:2774
Vitreoretinopathy With Phalangeal Epiphyseal Dysplasia
Hip osteoarthritis OMIM:619248
Paget Disease Of Bone 6
Left ventricular hypertrophy, Osteoarthritis, Recurrent fractures OMIM:616833
Peripheral Dysostosis
Hip osteoarthritis OMIM:170700
Caffey Disease
Feeding difficulties in infancy, Increased circulating antibody level, Respiratory insufficiency ORPHA:1310
Scalp-Ear-Nipple Syndrome
Epicanthus, Telecanthus, Palpebral edema, Short stature, Sparse axillary hair, Blepharophimosis, ... OMIM:181270
Mucopolysaccharidosis Type 2
Hepatomegaly, Short stature, Splenomegaly, Chronic diarrhea, Enlarged tonsils, Gingival overgrowt... ORPHA:580
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Reticulocytosis, Abdominal pain, Intestinal perforation, Thrombocytopenia, Peritonitis, Rectal pr... ORPHA:90038
Inflammatory Bowel Disease 11
Abdominal pain, Diarrhea, Weight loss, Hematochezia, Inflammation of the large intestine OMIM:191390
Sympathetic Ophthalmia
Alopecia, Poliosis, Erythema, Macular edema, Posterior uveitis ORPHA:79098
Tyrosinemia Type 2
Hyperkeratosis, Palmoplantar keratoderma, Abnormality of the nail ORPHA:28378
Aplasia Cutis-Myopia Syndrome
Skin ulcer ORPHA:1117
Carney Triad
Gastrointestinal hemorrhage, Nausea and vomiting, Anorexia, Abdominal pain, Gastrointestinal stro... ORPHA:139411
Myotonic Dystrophy 2
Frontal balding, Oligozoospermia, Decreased circulating total IgM, Hypogonadism, Decreased circul... OMIM:602668
X-Linked Creatine Transporter Deficiency
Aganglionic megacolon, Redundant skin, Cachexia, Short stature, Ileus, Joint hyperflexibility, Co... ORPHA:52503
Ring Chromosome 10 Syndrome
Aganglionic megacolon, Cachexia, Thin vermilion border, Long philtrum, Intrauterine growth retard... ORPHA:1438
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Short philtrum, Premature ovarian insufficiency, Streak ovary, Duplicated lacrimal punctum, Highl... ORPHA:572333
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language
Thin upper lip vermilion, Feeding difficulties, Downturned corners of mouth, Lobulated tongue, Up... OMIM:613443
Silver-Russell Syndrome
Dental crowding, Failure to thrive in infancy, Cachexia, Short stature, Postnatal growth retardat... ORPHA:813
Somatostatinoma
Anorexia, Poor appetite, Lack of bowel sounds, Hepatomegaly, Intermittent jaundice, Episodic abdo... ORPHA:97283
Ophthalmoplegia-Intellectual Disability-Lingua Scrotalis Syndrome
Ptosis, Furrowed tongue ORPHA:2743
Middle Ear Neuroendocrine Tumor
Chronic diarrhea, Chronic noninfectious lymphadenopathy ORPHA:100084
Pontocerebellar Hypoplasia, Type 1B
Tongue atrophy, Flexion contracture, Hip dislocation, Respiratory insufficiency, Feeding difficul... OMIM:614678
Chronic Myeloid Leukemia
Poor appetite, Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative di... ORPHA:521
Premature Ovarian Failure 20
Secondary amenorrhea, Female infertility OMIM:619938
Lmna-Related Cardiocutaneous Progeria Syndrome
Absent eyebrow, Absent eyelashes, Premature graying of hair, Sparse hair, Premature skin wrinklin... ORPHA:363618
Tubulointerstitial Nephritis And Uveitis Syndrome
Normocytic anemia, Nongranulomatous uveitis, Anterior uveitis, Skin rash, Anorexia, Abdominal pai... ORPHA:91500
Familial Keratoacanthoma
Hyperkeratosis, Skin ulcer ORPHA:493
Ophthalmoplegia, Progressive, With Scrotal Tongue And Mental Deficiency
Furrowed tongue OMIM:165150
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Elevated hepatic transaminase, Recurrent respiratory infections, Epicanthus, Redundant neck skin,... ORPHA:397715
Dehydrated Hereditary Stomatocytosis 2
Hepatomegaly, Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Increase... OMIM:616689
Cowden Syndrome
Short stature, Conjunctival hamartoma, Enlarged polycystic ovaries, Furrowed tongue, Hamartomatou... ORPHA:201
Familial Colorectal Cancer Type X
Gastrointestinal hemorrhage, Neoplasm of the pancreas, Pancreatic adenocarcinoma, Nausea and vomi... ORPHA:440437
Doors Syndrome
Respiratory distress, Short lingual frenulum, Polyhydramnios, Low anterior hairline, Downturned c... ORPHA:79500
Multiple Endocrine Neoplasia Type 2
Joint laxity, Reduced subcutaneous adipose tissue, Aganglionic megacolon, Abdominal distention, D... ORPHA:653
Osteoarthritis Susceptibility 1
Hip osteoarthritis OMIM:165720
Neuropathy, Hereditary Sensory And Autonomic, Type Ia
Foot osteomyelitis, Osteomyelitis, Acral ulceration, Tongue fasciculations OMIM:162400
Central Diabetes Insipidus
Nausea and vomiting, Anorexia, Diarrhea, Dehydration, Weight loss, Failure to thrive ORPHA:178029
Isaacs Syndrome
Weight loss ORPHA:84142
Simpson-Golabi-Behmel Syndrome, Type 1
Polyhydramnios, Abnormal lung lobation, Hepatoblastoma, Exaggerated median tongue furrow, Hepatom... OMIM:312870
Tyrosinemia, Type I
Gastrointestinal hemorrhage, Hepatomegaly, Failure to thrive, Acute hepatic failure, Elevated hep... OMIM:276700
Ulnar Hemimelia
Limited elbow movement, Osteoarthritis, Humeroradial synostosis, Elbow flexion contracture, Antec... ORPHA:93320
Lynch Syndrome
Intestinal polyposis, Gastrointestinal hemorrhage, Pancreatic adenocarcinoma, Neoplasm of the pan... ORPHA:144
Congenital Fiber-Type Disproportion Myopathy
Congenital hip dislocation, Dental crowding, Polyhydramnios, Poor appetite, Nasogastric tube feed... ORPHA:2020
Premature Ovarian Failure 13
Oligomenorrhea, Female infertility, Amenorrhea OMIM:617442
Progressive Pseudorheumatoid Dysplasia
Arthropathy, Enlarged interphalangeal joints, Camptodactyly of finger, Joint stiffness, Osteoarth... OMIM:208230
Huntington Disease-Like 2
Weight loss OMIM:606438
Arima Syndrome
Hepatomegaly, Dyspnea, Tachypnea, Esophageal varix, Wide mouth, Growth delay, Hepatic fibrosis, C... OMIM:243910
Hypermobile Ehlers-Danlos Syndrome
Joint dislocation, Apnea, Osteoarthritis, Anorectal anomaly, Gastrointestinal dysmotility, Abnorm... ORPHA:285
Aortic Aneurysm, Familial Thoracic 12
Arthritis, Chronic pulmonary obstruction, High palate, Spontaneous pneumothorax OMIM:619825
9Q21.13 Microdeletion Syndrome
Craniosynostosis, Postnatal growth retardation, Cryptorchidism, Gastrointestinal dysmotility, Abn... ORPHA:531151
Spinocerebellar Ataxia 48
Cachexia, Dysphagia OMIM:618093
Juvenile Huntington Disease
Weight loss ORPHA:248111
Premature Ovarian Failure 6
Streak ovary, Premature ovarian insufficiency, Female infertility, Secondary amenorrhea, Primary ... OMIM:612310
Septo-Optic Dysplasia Spectrum
Short stature, Esophageal atresia, Cryptorchidism, Tracheoesophageal fistula, Cleft palate, Obesi... ORPHA:3157
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome
Short stature, Cachexia, Joint stiffness ORPHA:1144
Ossification Anomalies-Psychomotor Developmental Delay Syndrome
Elevated hepatic transaminase, Hepatomegaly, Postnatal growth retardation, Shallow orbits, Abnorm... ORPHA:73230
Neuropathy, Hereditary Sensory And Autonomic, Type Ic
Osteomyelitis, Skin ulcer OMIM:613640
Spherocytosis, Type 5
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Abnormal platelet count... OMIM:612690
Polyendocrine-Polyneuropathy Syndrome
Postnatal growth retardation, Alopecia, Hypogonadotropic hypogonadism, Decreased testicular size ORPHA:453533
Alexander Disease Type I
Failure to thrive, Vomiting, Cachexia, Dysphagia ORPHA:363717
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome
Joint dislocation, Short stature, Camptodactyly of finger, High, narrow palate, Submucous cleft h... ORPHA:3201
Congenital Disorder Of Glycosylation, Type Iiw
Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly, Membranoproliferative glomerulone... OMIM:619525
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy
Cachexia, Joint stiffness ORPHA:1216
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type
Joint laxity, Small for gestational age, Short stature, Hip subluxation, Delayed epiphyseal ossif... ORPHA:93360
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Smooth philtrum, Epicanthus, Short stature, Cleft lip, Widow's peak, Patent ductus arteriosus, Cr... OMIM:616975
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria
Short stature, Generalized hirsutism, Cachexia, Ptosis ORPHA:1933
Diencephalic Syndrome
Everted lower lip vermilion, Cachexia, Decreased body weight ORPHA:1672
Spondyloepimetaphyseal Dysplasia, Sponastrime Type
Osteopenia, Rhizomelia, Abnormality of the dentition, Neutropenia, Genu valgum, Delayed ossificat... OMIM:271510
Solitary Fibrous Tumor
Abnormal peritoneum morphology, Pelvic mass, Weight loss, Neoplasm of the lung, Neoplasm of the l... ORPHA:2126
Stickler Syndrome
Joint dislocation, Feeding difficulties in infancy, Osteoarthritis, Uveitis, Reduced bone mineral... ORPHA:828
Neuroblastoma, Susceptibility To, 1
Abdominal mass, Abdominal pain, Diarrhea, Horner syndrome, Weight loss, Failure to thrive, Anemia OMIM:256700
Calciphylaxis
Ectopic ossification, Cutis marmorata, Abnormality of skin physiology, Skin ulcer ORPHA:280062
Choreoacanthocytosis
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Protruding tongue, A... ORPHA:2388
Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency
Failure to thrive, Pancreatitis, Aspiration pneumonia ORPHA:431361
Somatomammotropinoma
Palpebral edema, Abnormal fingernail morphology, Dysmenorrhea, Abnormality of the dentition, Hypo... ORPHA:314769
Encephalocraniocutaneous Lipomatosis
Alopecia, Subcutaneous lipoma, Cryptorchidism, Eyelid coloboma, Limbal dermoid, Peripheral pulmon... OMIM:613001
Lyme Disease
Nausea and vomiting, Uveitis, Arthritis, Joint swelling, Infectious encephalitis ORPHA:91546
Pulmonary Alveolar Proteinosis, Acquired
Brain abscess, Recurrent respiratory infections, Lung abscess, Cyanosis, Pneumonia, Dyspnea, Intr... OMIM:610910
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Smooth philtrum, Respiratory distress, Megaloblastic anemia, Pulmonary embolism, Jaundice, Hydrop... ORPHA:79282
Hyperparathyroidism, Neonatal Severe
Hepatomegaly, Recurrent fractures, Feeding difficulties in infancy, Splenomegaly, Dyspnea, Tachyp... OMIM:239200
Hereditary Central Diabetes Insipidus
Growth delay, Diarrhea, Vomiting, Weight loss ORPHA:30925
Pallister-Killian Syndrome
Tented upper lip vermilion, Edema of the dorsum of feet, Congenital hip dislocation, Polyhydramni... OMIM:601803
Hereditary Pulmonary Alveolar Proteinosis
Respiratory distress, Respiratory failure requiring assisted ventilation, Crazy paving pattern, F... ORPHA:264675
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)
Colonic diverticula, Intestinal pseudo-obstruction, Gastroparesis, Cachexia, Malabsorption, Intes... OMIM:603041
Carey-Fineman-Ziter Syndrome 1
Epicanthus, Lagophthalmos, Cryptorchidism, Pierre-Robin sequence, Flexion contracture, Bowel irri... OMIM:254940
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome
Osteopenia, Joint laxity, Epicanthus, Abnormality of hair texture, Thickened skin, Synophrys, Hyp... ORPHA:73223
Glycogen Storage Disease Ia
Elevated hepatic transaminase, Hepatomegaly, Short stature, Delayed puberty, Osteoporosis, Gout, ... OMIM:232200
Cutaneous Neuroendocrine Carcinoma
Cutaneous photosensitivity, Lymphoid leukemia, Chronic noninfectious lymphadenopathy ORPHA:79140
Diarrhea 10, Protein-Losing Enteropathy Type
Polyhydramnios, Pericardial effusion, Cryptorchidism, Recurrent upper respiratory tract infection... OMIM:618183
Orofaciodigital Syndrome Ix
Telecanthus, Median cleft lip, Short stature, Accessory oral frenulum, Abnormality of the dentiti... OMIM:258865
Bannayan-Riley-Ruvalcaba Syndrome
Intestinal polyposis, Short stature, Cutis marmorata, Abnormal large intestine morphology, Cachex... ORPHA:109
Orofaciodigital Syndrome Xix
Epicanthus, Cleft soft palate, Accessory oral frenulum, Carious teeth, Narrow palate, Low posteri... OMIM:620107
Yunis-Varon Syndrome
Redundant neck skin, Polyhydramnios, Cardiomegaly, High, narrow palate, Hydrops fetalis, Broad se... ORPHA:3472
Congenital Enterocyte Heparan Sulfate Deficiency
Edema, Abdominal distention, Diarrhea, Dehydration, Weight loss, Hematochezia, Protein-losing ent... ORPHA:103910
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Absent gallbladder, Natal tooth, Esophageal diverticulum, Hamartoma of tongue, Cleft lip, Cleft p... OMIM:617925
Proximal Spinal Muscular Atrophy
Hypoventilation, Neonatal respiratory distress, Multiple joint contractures, Gastroparesis, Recur... ORPHA:70
Holzgreve Syndrome
Abnormally ossified vertebrae, Aplasia/Hypoplasia of the tongue, Joint stiffness, Abnormal mesent... ORPHA:2167
Adrenocortical Carcinoma
Abdominal pain, Abnormality of reproductive system physiology, Increased body weight, Weight loss... ORPHA:1501
Dysplasia Epiphysealis Hemimelica
Tarsal synostosis, Recurrent fractures, Joint stiffness, Osteoarthritis, Genu valgum, Genu varum ORPHA:1822
Gabriele-De Vries Syndrome
Oral-pharyngeal dysphagia, Feeding difficulties in infancy, High palate, Finger joint hypermobili... ORPHA:506358
Mounier-Kühn Syndrome
Recurrent respiratory infections, Recurrent bronchopulmonary infections, Pneumonia, Bronchitis ORPHA:3347
Au-Kline Syndrome
Downturned corners of mouth, Oligodontia, Gastroesophageal reflux, High palate, Shallow orbits, B... OMIM:616580
Mandibulofacial Dysostosis, Guion-Almeida Type
Respiratory distress, Epicanthus, Telecanthus, Short stature, Feeding difficulties in infancy, Es... OMIM:610536
Familial Multiple Nevi Flammei
Edema, Skin ulcer, Pulmonary embolism ORPHA:624
Myelofibrosis
Myeloproliferative disorder, Splenomegaly, Pallor, Purpura OMIM:254450
Orofaciodigital Syndrome Type 6
Epicanthus, Failure to thrive, Apnea, Episodic tachypnea, Hamartoma of tongue, Highly arched eyeb... ORPHA:2754
Alpha-N-Acetylgalactosaminidase Deficiency Type 2
Telangiectasia of the oral mucosa, Telangiectasia of the skin, Cardiomegaly, Lymphedema, Lip tela... ORPHA:79280
Surfactant Metabolism Dysfunction, Pulmonary, 2
Respiratory distress, Reduced forced vital capacity, Tachypnea, Cough, Decreased DLCO, Bronchiect... OMIM:610913
Pseudoachondroplasia
Joint laxity, Genu recurvatum, Limited hip extension, Ulnar deviation of the wrist, Irregular car... OMIM:177170
Deafness-Craniofacial Syndrome
Short lingual frenulum, Abnormality of the dentition, Patent ductus arteriosus, Abnormal palate m... ORPHA:3241
Miller-Dieker Lissencephaly Syndrome
Delayed eruption of teeth, Thin upper lip vermilion, Epicanthus, Polyhydramnios, Cryptorchidism, ... OMIM:247200
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Natal tooth, Rhizomelia, Hamartoma of tongue, Unicoronal synostosis, Sparse eyebrow, Cleft lip, P... OMIM:616300
Meconium Aspiration Syndrome
Respiratory distress, Atelectasis, Neonatal asphyxia, Pneumothorax, Wheezing, Hypoxemia, Aspirati... ORPHA:70588
Hyperlipoproteinemia, Type Id
Hepatomegaly, Splenomegaly, Colitis, Recurrent pancreatitis, Failure to thrive, Pancreatitis OMIM:615947
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Dental crowding, Gastroesophageal reflux, Otitis media, Joint laxity, Short stature, Pilomatrixom... ORPHA:353281
Neuropathy, Hereditary Sensory And Autonomic, Type Iib
Osteomyelitis, Acral ulceration, Osteolytic defects of the phalanges of the hand OMIM:613115
Focal Myositis
Myositis, Limitation of joint mobility, Weight loss ORPHA:48918
Neuroendocrine Neoplasm Of Appendix
Nausea and vomiting, Hepatomegaly, Abdominal colic, Elevated hepatic transaminase, Functional int... ORPHA:100079
Mosaic Variegated Aneuploidy Syndrome 7 With Inflammation And Tumor Predisposition
Hyperkeratosis, Pilomatrixoma, Adenocarcinoma of the colon OMIM:620189
Charge Syndrome
Polyhydramnios, Pulmonary artery atresia, Aplasia/Hypoplasia of the thymus, Hypogonadotropic hypo... OMIM:214800
Congenital Pseudoarthrosis Of The Clavicle
Osteoarthritis ORPHA:66630
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Osteopenia, Alopecia, Abnormally ossified vertebrae, Severe short stature, Osteomalacia, Dyspnea,... ORPHA:2636
Ppoma
Anorexia, Poor appetite, Lack of bowel sounds, Hepatomegaly, Intermittent jaundice, Episodic abdo... ORPHA:97278
Progressive Nodular Histiocytosis
Cachexia ORPHA:158022
Attenuated Chédiak-Higashi Syndrome
Recurrent respiratory infections, Epistaxis, Skin ulcer, Gingival bleeding, Bruising susceptibility ORPHA:352723
Lacrimoauriculodentodigital Syndrome
Xerostomia, Orofacial cleft, Microdontia, Abnormal salivary gland morphology, Bifid uvula, Abnorm... ORPHA:2363
Classical Ehlers-Danlos Syndrome
Osteopenia, Osteoarthritis, Rectal prolapse, Generalized joint laxity, Shoulder dislocation, Vomi... ORPHA:287
Chronic Visceral Acid Sphingomyelinase Deficiency
Osteopenia, Hepatomegaly, Respiratory failure requiring assisted ventilation, Short stature, Auto... ORPHA:77293
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5
Restrictive ventilatory defect, Flexion contracture, Pneumonia, Right ventricular hypertrophy OMIM:253700
Short-Rib Thoracic Dysplasia 15 With Polydactyly
Respiratory distress, Hepatomegaly, Epicanthus, Median cleft lip, Short stature, Accessory oral f... OMIM:617088
Spondylosis, Cervical
Osteoarthritis OMIM:184300
Brown-Vialetto-Van Laere Syndrome 1
Respiratory distress, Recurrent respiratory infections, Tongue atrophy, Respiratory failure requi... OMIM:211530
Acro-Renal-Mandibular Syndrome
Aplasia/Hypoplasia of the tongue, Abnormal lung lobation, Tracheoesophageal fistula, Orofacial cl... ORPHA:958
Fowler Urethral Sphincter Dysfunction Syndrome
Acne ORPHA:2795
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome
Recurrent respiratory infections, Short stature, Cachexia, Long philtrum, Abnormal palate morphology ORPHA:1389
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia
Tongue atrophy, Tongue fasciculations, Respiratory failure, Dysphagia OMIM:613435
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia
Short stature, Bilateral cryptorchidism, Patent ductus arteriosus, Recurrent pneumonia, Chronic c... OMIM:300472
Pancreatoblastoma
Abdominal pain, Abdominal distention, Diarrhea, Jaundice, Abnormal lymph node morphology, Weight ... ORPHA:677
Rheumatoid Arthritis
Joint stiffness, Weight loss, Joint swelling, Polyarticular arthritis, Rheumatoid arthritis OMIM:180300
Orofaciodigital Syndrome Xv
Lobulated tongue, Midline notch of upper alveolar ridge OMIM:617127
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive
Enlarged joints, Short stature, Premature osteoarthritis, Recurrent pneumonia, Pierre-Robin seque... OMIM:215150
Huntington Disease-Like 1
Weight loss ORPHA:157941
Wolfram Syndrome 2
Primary amenorrhea, Decreased circulating antibody level, Gastric ulcer, Oligomenorrhea, Impaired... OMIM:604928
Auriculocondylar Syndrome 1
Dental crowding, Apnea, Ankylosis, Dental malocclusion, Cleft palate, Mandibular condyle hypoplas... OMIM:602483
Orofaciodigital Syndrome V
Unilateral ptosis, Thin upper lip vermilion, Recurrent respiratory infections, Median cleft lip, ... OMIM:174300
Multiple Endocrine Neoplasia Type 1
Anorexia, Dehydration, Reduced bone mineral density, Zollinger-Ellison syndrome, Gastroesophageal... ORPHA:652
Insensitivity To Pain, Congenital, With Anhidrosis
Sparse scalp hair, Osteomyelitis, Neuropathic arthropathy, Poor wound healing, Keratitis, Acral u... OMIM:256800
Hypercalcemia, Infantile, 1
Failure to thrive, Vomiting, Dehydration, Weight loss OMIM:143880
Vertical Talus, Congenital
Arthritis OMIM:192950
Xfe Progeroid Syndrome
Elevated hepatic transaminase, Failure to thrive, Severe short stature, Premature ovarian insuffi... OMIM:610965
Pyomyositis
Recurrent cutaneous abscess formation, Myositis, Leukocytosis, Weight loss, Testicular teratoma ORPHA:764
Distal Deletion 15Q
Thin upper lip vermilion, Failure to thrive, Small for gestational age, Short stature, Abnormalit... ORPHA:1596
Multiple Epiphyseal Dysplasia Type 4
Rhizomelia, Dislocation of the femoral head, Joint stiffness, Moderately short stature, Flexion c... ORPHA:93307
Severe Acute Respiratory Syndrome
Respiratory distress, Respiratory failure requiring assisted ventilation, Dyspnea, Acute infectio... ORPHA:140896
Cleft Velum
Cleft soft palate, Oral-pharyngeal dysphagia, Velopharyngeal insufficiency, Nasal regurgitation, ... ORPHA:99772
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome
Arthritis, Dysphagia ORPHA:397744
Graves Disease, Susceptibility To, 1
Abnormal abdomen morphology, Onycholysis, Weight loss OMIM:275000
Moebius Syndrome
Epicanthus, Hypogonadotropic hypogonadism, Aplasia/Hypoplasia of the tongue, Feeding difficulties... ORPHA:570
Elliptocytosis 1
Hemolytic anemia, Splenomegaly, Jaundice, Elliptocytosis, Pallor OMIM:611804
Hypomandibular Faciocranial Dysostosis
Recurrent respiratory infections, Aplasia/Hypoplasia of the tongue, Polyhydramnios, Craniosynosto... ORPHA:1790
Visceral Myopathy, Familial, With External Ophthalmoplegia
Spontaneous esophageal perforation, Gastroparesis, Abdominal pain, Abdominal distention, Malnutri... OMIM:277320
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome
Short stature, Congenital hepatic fibrosis, Respiratory insufficiency, Glossoptosis, Blepharophim... ORPHA:2031
Xeroderma Pigmentosum-Cockayne Syndrome Complex
Short stature, Skin rash, Cachexia, Prematurely aged appearance, Urticaria, Cutaneous photosensit... ORPHA:220295
Overhydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto... ORPHA:3203
Neuroleptic Malignant Syndrome
Elevated hepatic transaminase, Pulmonary embolism, Leukocytosis, Dehydration, Vomiting, Aspiratio... ORPHA:94093
Neuropathy, Hereditary Sensory And Autonomic, Type Iia
Feeding difficulties in infancy, Paronychia, Hypogeusia, Foot acroosteolysis, Osteolytic defects ... OMIM:201300
Tarp Syndrome
Failure to thrive, Cleft palate, Tongue nodules, Glossoptosis, High palate, Hepatic failure, Intr... OMIM:311900
Overhydrated Hereditary Stomatocytosis
Hepatomegaly, Hemolytic anemia, Reticulocytosis, Pulmonary embolism, Splenomegaly, Jaundice, Stom... OMIM:185000
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Osteopenia, Hypoventilation, Joint laxity, Apnea, Short stature, Breathing dysregulation, Almond-... ORPHA:438213
Adult Polyglucosan Body Disease
Limitation of joint mobility, Skin ulcer ORPHA:206583
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Acne, Short stature, Frontal balding, Hypogonadotropic hypogonadism, Abnormality of the menstrual... ORPHA:90794
Spherocytosis, Type 1
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Cholelithiasis OMIM:182900
Down Syndrome
Joint laxity, Epicanthus, Redundant neck skin, Aganglionic megacolon, Short stature, Protruding t... OMIM:190685
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 3
Pneumonia, Cerebral edema OMIM:608033
Apert Syndrome
Delayed eruption of teeth, Feeding difficulties in infancy, Esophageal atresia, Cervical C5/C6 ve... ORPHA:87
Beckwith-Wiedemann Syndrome
Hepatomegaly, Prominent metopic ridge, Redundant skin, Polyhydramnios, Cardiomegaly, Large for ge... ORPHA:116
Pelizaeus-Merzbacher Disease
Recurrent respiratory infections, Failure to thrive in infancy, Short stature, Cachexia, Bowel in... ORPHA:702
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type
Abnormally ossified vertebrae, Restricted large joint movement, Carious teeth, Abnormal respirato... ORPHA:93346
Spherocytosis, Type 2
Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Spherocytosis OMIM:616649
Infantile Neuroaxonal Dystrophy
Flexion contracture, Apneic episodes in infancy, Constipation, Aspiration pneumonia ORPHA:35069
Arteriosclerosis, Severe Juvenile
Gastric ulcer, Short stature, Anemia, Delayed puberty OMIM:208060
Gitelman Syndrome
Neoplasm of the pancreas, Respiratory distress, Nausea and vomiting, Abdominal pain, Pericardial ... ORPHA:358
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Polyhydramnios, Esophageal atresia, Tracheoesophageal fistula, Pulmonary hypoplasia, Anal atresia... OMIM:314390
Igg4-Related Thyroid Disease
Pancreatic fibrosis, Increased circulating IgG4 level, Retroperitoneal fibrosis, Thyroiditis, Scl... ORPHA:64744
Progressive Multifocal Leukoencephalopathy
Decreased proportion of CD8-positive T cells, Abnormal proportion of CD4-positive T cells ORPHA:217260
Meckel Syndrome
Accessory spleen, Pancreatic fibrosis, Aplasia/Hypoplasia of the tongue, Asplenia, Congenital hep... ORPHA:564
Seckel Syndrome
Sparse scalp hair, Short stature, Abnormal dental enamel morphology, Cachexia, Craniosynostosis, ... ORPHA:808
Charcot-Marie-Tooth Disease Type 4B2
Tongue atrophy, Reduced vital capacity, Penetrating foot ulcers, Respiratory insufficiency, Diffi... ORPHA:99956
Ring Chromosome 13 Syndrome
Alopecia, Hypoplasia of the gallbladder, Epicanthus, Growth delay, High palate, Short philtrum, A... ORPHA:96176
Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant
Arthritis, Cervical subluxation, Childhood-onset short-trunk short stature OMIM:184100
Myeloma, Multiple
Paraproteinemia OMIM:254500
Oromandibular Dystonia
Respiratory distress, Weight loss, Blepharospasm, Abnormal lip morphology, Dysphagia ORPHA:93958
Cherubism
Dental malocclusion, Alveolar ridge overgrowth, Narrow palate, Oligodontia, Lower eyelid retracti... OMIM:118400
Van Esch-O'Driscoll Syndrome
Short stature, Hypogonadotropic hypogonadism, Esophageal atresia, Pulmonary artery stenosis, Trac... OMIM:301030
Robinow Syndrome, Autosomal Recessive 1
Tented upper lip vermilion, Dental crowding, Dislocated radial head, Joint laxity, Vertebral fusi... OMIM:268310
Cerebrocostomandibular Syndrome
Congenital hip dislocation, Polyhydramnios, Anteriorly placed anus, Glossoptosis, High palate, Ga... OMIM:117650
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Elevated hepatic transaminase, Pyloric stenosis, Jaundice, Aplasia/Hypoplasia of the pancreas, Ab... ORPHA:93111
Osteosarcoma
Joint swelling, Pathologic fracture, Osteolysis, Weight loss ORPHA:668
X-Linked Dystonia-Parkinsonism
Impaired oropharyngeal swallow response, Blepharospasm, Aspiration pneumonia, Protruding tongue ORPHA:53351
Epidermodysplasia Verruciformis, Susceptibility To, 5
T lymphocytopenia, Lymphopenia OMIM:618309
Auriculocondylar Syndrome
Respiratory distress, Dental crowding, Hamartoma of tongue, Narrow mouth, Mandibular condyle apla... ORPHA:137888
Mullerian Aplasia And Hyperandrogenism
Acne OMIM:158330
Congenital Analbuminemia
Small for gestational age, Edema, Facial edema, Obesity, Pedal edema, Increased circulating antib... ORPHA:86816
Hypophosphatemic Rickets, X-Linked Dominant
Short stature, Osteomalacia, Osteoarthritis, Enamel hypomineralization, Rickets, Genu valgum, Hyp... OMIM:307800
Carey-Fineman-Ziter Syndrome
Epicanthus, Short stature, Aplasia/Hypoplasia of the tongue, Pierre-Robin sequence, Cleft palate,... ORPHA:1358
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Left ventricular hypertrophy, Hepatomegaly, Aspiration pneumonia, Feeding difficulties OMIM:619167
Phosphoribosylaminoimidazole Carboxylase Deficiency
Short stature, Polyhydramnios, Bilateral cryptorchidism, Esophageal atresia, Tracheoesophageal fi... OMIM:619859
Infantile Krabbe Disease
Respiratory distress, Cachexia, Nasogastric tube feeding in infancy, Feeding difficulties, Ankle ... ORPHA:206436
Cholera
Achlorhydria, Abdominal pain, Diarrhea, Tachypnea, Dehydration, Vomiting, Abdominal cramps, Aspir... ORPHA:173
Renal Nutcracker Syndrome
Dyspareunia, Dysmenorrhea, Abdominal pain, Weight loss, Infertility, Nausea, Anemia ORPHA:71273
Encephalocraniocutaneous Lipomatosis
Alopecia, Abnormal nasolacrimal system morphology, Abnormal eyelid morphology, Abnormal eyelash m... ORPHA:2396
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Esophageal atresia, Patent ductus arteriosus, Cryptorchidism, Tracheoesophageal fistula, Growth d... ORPHA:77298
Marfan Syndrome
Pulmonary artery dilatation, Osteopenia, Arthralgia/arthritis, Dental crowding, Spontaneous pneum... ORPHA:558
Charcot-Marie-Tooth Disease, Axonal, Type 2S
Tongue atrophy OMIM:616155
X-Linked Hypophosphatemia
Odontodysplasia, Craniosynostosis, Generalized osteosclerosis, Sacroiliac joint synovitis, Limita... ORPHA:89936
Parathyroid Carcinoma
Nausea and vomiting, Pancreatic adenocarcinoma, Peptic ulcer, Testicular neoplasm, Osteoporosis, ... ORPHA:143
Combined Oxidative Phosphorylation Deficiency 25
Short stature, Feeding difficulties, Chronic constipation, Aspiration pneumonia, Long philtrum, F... OMIM:616430
Methimazole Embryofetopathy
Esophageal atresia, Tracheoesophageal fistula, Polyhydramnios, Intrauterine growth retardation ORPHA:1923
Non-Syndromic Posterior Hypospadias
Small for gestational age, Esophageal atresia, Cryptorchidism, Cleft palate, Anal atresia ORPHA:95706
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease
Hepatic cysts, Gout OMIM:618061
Dysbetalipoproteinemia
Hepatomegaly, Acute pancreatitis, Obesity, Gout, Xanthelasma, Hepatic steatosis ORPHA:412
Enthesitis-Related Juvenile Idiopathic Arthritis
Anterior uveitis, Knee osteoarthritis, Oligoarthritis, Abnormality of the elbow, Enthesitis, Arth... ORPHA:85438
Carney Complex
Neoplasm of the stomach, Increased body weight, Leydig cell neoplasia, Abnormal sperm motility, N... ORPHA:1359
Myopathy, Myofibrillar, 7
Tongue atrophy, Multiple joint contractures, Limited hip extension, Shoulder flexion contracture,... OMIM:617114
Charcot-Marie-Tooth Disease, Type 4C
Tongue atrophy, Tongue fasciculations OMIM:601596
Spondylometaphyseal Dysplasia, Kozlowski Type
Abnormal acetabulum morphology, Limb joint contracture, Severe short stature, Abnormal enchondral... ORPHA:93314
Otopalatodigital Syndrome Type 2
Carpal synostosis, Increased bone mineral density, Tarsal synostosis, Camptodactyly of finger, El... ORPHA:90652
Semilobar Holoprosencephaly
Flexion contracture, Gastroesophageal reflux, High palate, Vomiting, Aspiration pneumonia, Bifid ... ORPHA:220386
Alobar Holoprosencephaly
Flexion contracture, Gastroesophageal reflux, High palate, Vomiting, Aspiration pneumonia, Bifid ... ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Flexion contracture, Gastroesophageal reflux, High palate, Vomiting, Aspiration pneumonia, Bifid ... ORPHA:93926
Lobar Holoprosencephaly
Flexion contracture, Gastroesophageal reflux, High palate, Vomiting, Aspiration pneumonia, Bifid ... ORPHA:93924
Hyperlipoproteinemia, Type I
Nausea, Splenomegaly, Jaundice, Hepatosplenomegaly, Episodic abdominal pain, Vomiting, Pancreatitis OMIM:238600
Alkaptonuria
Joint dislocation, Joint stiffness, Osteoarthritis, Reduced bone mineral density, Joint swelling,... ORPHA:56
Chromosome 17Q12 Duplication Syndrome
Esophageal atresia, Downslanted palpebral fissures, Cleft soft palate, Smooth philtrum OMIM:614526
Linear Nevus Sebaceus Syndrome
Growth delay, Alopecia, Genu recurvatum, Telecanthus ORPHA:2612
Rett Syndrome
Intermittent hyperventilation, Apnea, Cachexia, Abnormality of the dentition, Short stature, Cons... OMIM:312750
Sporadic Pheochromocytoma/Secreting Paraganglioma
Episodic abdominal pain, Weight loss, Pallor, Nausea, Flushing ORPHA:276621
Epidermolysis Bullosa, Junctional 6, With Pyloric Atresia
Esophageal stenosis, Congenital pyloric atresia, Oral mucosal blisters OMIM:619817
Perry Syndrome
Central hypoventilation, Weight loss ORPHA:178509
Hemophilia A
Osteoarthritis, Bruising susceptibility, Joint hemorrhage OMIM:306700
Robinow Syndrome, Autosomal Dominant 1
Short lingual frenulum, Dental crowding, Orofacial cleft, Downturned corners of mouth, High palat... OMIM:180700
Hemophilia B
Gastrointestinal hemorrhage, Osteoarthritis, Joint hemorrhage OMIM:306900
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Pneumonia, Jaundice, Vomiting, Macroorchidism, Failure to thrive ORPHA:90790
Aapoaiv Amyloidosis
Abnormality of the gastrointestinal tract, Abnormal lung morphology, Paraproteinemia, Chronic pul... ORPHA:439232
Benign Schwannoma
Intestinal polyposis, Abnormality of the liver, Abnormal parotid gland morphology, Abnormal esoph... ORPHA:252164
Goodpasture Syndrome
Cyanosis, Glomerulonephritis, Nodular pattern on pulmonary HRCT, Crackles, Increased DLCO, Tachyp... OMIM:233450
Fryns-Smeets-Thiry Syndrome
Short stature, Cachexia, Thick lower lip vermilion, Hip dislocation, Patellar aplasia, Wide mouth... ORPHA:2058
Burning Mouth Syndrome
Abnormality of taste sensation, Parageusia, Abnormality of the gingiva, Strawberry tongue, Xerost... ORPHA:353253
Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets
Duodenal ulcer, Iron deficiency anemia, Gastric ulcer, Esophageal ulceration, Impaired platelet a... OMIM:618372
Orofaciodigital Syndrome Type 3
Irregular dentition, Hamartoma of tongue, Abnormality of hair texture, Abnormality of the dentiti... ORPHA:2752
Auriculocondylar Syndrome 3
Glossoptosis, Bifid uvula, Ectropion OMIM:615706
Amyotrophic Lateral Sclerosis 27, Juvenile
Tongue atrophy, Tongue fasciculations, Respiratory insufficiency OMIM:620285
Encephalitis Lethargica
Stiff neck, Increased circulating antibody level, Bowel incontinence, Hyperventilation ORPHA:83600
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis
Intestinal pseudo-obstruction, Gastroparesis, Respiratory insufficiency, Weight loss, Dysphagia, ... OMIM:607459
Rhombencephalosynapsis
Aganglionic megacolon, Esophageal atresia, Tracheoesophageal fistula, Narrow mouth, Anal atresia ORPHA:59315
Familial Glucocorticoid Deficiency
Anorexia, Cryptorchidism, Diarrhea, Testicular adrenal rest tumor, Weight loss, Episodic abdomina... ORPHA:361
Glossopharyngeal Neuralgia
Oral-pharyngeal dysphagia, Odynophagia, Malnutrition, Weight loss, Feeding difficulties, Tongue p... ORPHA:221098
Feingold Syndrome Type 1
Jejunal atresia, Short palpebral fissure, Short stature, Esophageal atresia, Gastrointestinal atr... ORPHA:391641
Pseudoxanthoma Elasticum
Civatte bodies, Cutis laxa OMIM:264800
Trisomy 8Q
Camptodactyly of finger, Joint stiffness, Cryptorchidism, Non-midline cleft lip, Orofacial cleft,... ORPHA:1752
Robinow Syndrome
Fused thoracic vertebrae, Dental crowding, Small for gestational age, Short stature, Persistence ... ORPHA:97360
Contractures-Developmental Delay-Pierre Robin Syndrome
High, narrow palate, Cleft palate, Glossoptosis, Wrist flexion contracture, Radioulnar synostosis... ORPHA:436003
Isolated Permanent Neonatal Diabetes Mellitus
Prominent metopic ridge, Bilateral ptosis, Dehydration, Weight loss, Downturned corners of mouth,... ORPHA:99885
Multiple Osteochondromas
Abnormality of the knee, Intestinal obstruction, Short stature, Pneumothorax, Abnormal carpal mor... ORPHA:321
Multiple Epiphyseal Dysplasia Type 5
Osteoarthritis of the small joints of the hand, Abnormal acetabulum morphology, Decreased hip abd... ORPHA:93311
Vacterl With Hydrocephalus
Polyhydramnios, Esophageal atresia, Cryptorchidism, Hip dislocation, Tracheoesophageal fistula, P... ORPHA:3412
Mohr Syndrome
Telecanthus, Median cleft lip, Short stature, Accessory oral frenulum, Cleft palate, Tongue nodul... OMIM:252100
Hunter-Macdonald Syndrome
Thin upper lip vermilion, Short stature, Delayed cranial suture closure, Patent ductus arteriosus... OMIM:611962
Catel-Manzke Syndrome
Joint dislocation, Joint laxity, Cleft upper lip, Postnatal growth retardation, Cryptorchidism, P... OMIM:616145
Lissencephaly Due To Lis1 Mutation
Polyhydramnios, Aspiration pneumonia, Feeding difficulties ORPHA:95232
Chronic Thromboembolic Pulmonary Hypertension
Reduced vital capacity, Osteomyelitis, Edema, Pulmonary embolism, Increased pulmonary vascular re... ORPHA:70591
Spondyloepimetaphyseal Dysplasia, Missouri Type
Rhizomelia, Osteoarthritis, Limited elbow extension, Genu varum OMIM:602111
Cleft Lip/Palate-Intestinal Malrotation-Cardiopathy Syndrome
Intestinal malrotation, Patent ductus arteriosus, Bilateral cleft lip and palate, Upslanted palpe... ORPHA:2001
Orofaciodigital Syndrome Type 2
Apnea, Tachypnea, High palate, Short stature, Hamartoma of tongue, Talon cusp, Hypoplasia of teet... ORPHA:2751
Aneurysm-Osteoarthritis Syndrome
Joint laxity, Osteoarthritis of the small joints of the hand, Protrusio acetabuli, Camptodactyly ... ORPHA:284984
Congenital Tracheal Stenosis
Respiratory distress, Fetal ascites, Polyhydramnios, Abnormal lung morphology, Abnormal lung loba... ORPHA:141127
Spondyloepiphyseal Dysplasia Congenita
Abnormally ossified vertebrae, Limited elbow movement, Osteoporosis, Abnormal respiratory system ... ORPHA:94068
Severe Phosphoribosylpyrophosphate Synthetase Superactivity
Arthritis, Recurrent respiratory infections, Gout ORPHA:411543
Necrotizing Encephalomyelopathy, Subacute, Of Leigh, Adult
Gastric hypertrophy, Foot acroosteolysis, Osteolytic defects of the phalanges of the hand, Arthri... OMIM:161700
Hereditary Pheochromocytoma-Paraganglioma
Weight loss, Episodic abdominal pain, Pallor, Retinal capillary hemangioma, Nausea, Flushing ORPHA:29072
Tubulointerstitial Kidney Disease, Autosomal Dominant, 1
Nephritis, Gout OMIM:162000
Spinocerebellar Ataxia Type 36
Tongue atrophy, Bowel incontinence, Tongue fasciculations, Dysphagia, Ptosis ORPHA:276198
Orofaciodigital Syndrome Iv
Epicanthus, Short stature, Hamartoma of tongue, Accessory oral frenulum, Cleft palate, Lobulated ... OMIM:258860
Orofaciodigital Syndrome Type 5
Median cleft lip, Aganglionic megacolon, Cleft soft palate, Accessory oral frenulum, Abnormality ... ORPHA:2919
Juvenile Amyotrophic Lateral Sclerosis
Cachexia, Upper-limb joint contracture, Lower-limb joint contracture, Dysphagia, Gastrostomy tube... ORPHA:300605
Spondyloepiphyseal Dysplasia Tarda, X-Linked
Hip osteoarthritis, Postnatal growth retardation, Limitation of joint mobility, Disproportionate ... OMIM:313400
Perry Syndrome
Hypoventilation, Central hypoventilation, Respiratory insufficiency, Weight loss, Respiratory arrest OMIM:168605
Frontorhiny
Epicanthus, Camptodactyly of finger, Widow's peak, Cleft palate, Bifid tongue, Ptosis ORPHA:391474
Pmm2-Cdg
Respiratory distress, Osteopenia, Multiple joint contractures, Lymphedema, High palate, Vomiting,... ORPHA:79318
Joint Contractures, Osteochondromas, And B-Cell Lymphoma
Hip contracture, Generalized lymphadenopathy, Ankle flexion contracture, Reduced bone mineral den... OMIM:620232
Woodhouse-Sakati Syndrome
Sparse hair, Alopecia, Fine hair OMIM:241080
Fatal Familial Insomnia
Weight loss, Constipation, Apnea, Dysphagia OMIM:600072
Marfan Syndrome
Pulmonary artery dilatation, Reduced subcutaneous adipose tissue, Dental crowding, Genu recurvatu... OMIM:154700
Adams-Oliver Syndrome 1
Alopecia, Cutis marmorata, Supernumerary nipple, Cleft upper lip, Pulmonary artery stenosis, Clef... OMIM:100300
Chand Syndrome
Curly hair, Atelectasis, Bifid tongue, Cleft palate, Agenesis of permanent teeth, Ankyloblepharon... ORPHA:1401
Epidermolysis Bullosa, Junctional 2C, Laryngoonychocutaneous
Symblepharon, Recurrent loss of toenails and fingernails, Skin ulcer, Nail dystrophy, Enamel hypo... OMIM:245660
Congenital Disorder Of Glycosylation, Type Iw, Autosomal Dominant
Thin upper lip vermilion, Short stature, Osteoarthritis, Intrauterine growth retardation, High an... OMIM:619714
Spinocerebellar Ataxia 36
Ptosis, Tongue atrophy, Tongue fasciculations, Dysphagia OMIM:614153
Glucose-Galactose Malabsorption
Abdominal distention, Diarrhea, Malnutrition, Hyperactive bowel sounds, Dehydration, Weight loss,... ORPHA:35710
Focal Dermal Hypoplasia
Ridged nail, Brittle hair, Congenital hip dislocation, Anteriorly placed anus, Oligodontia, Absen... OMIM:305600
Tropical Pancreatitis
Pancreatic adenocarcinoma, Jaundice, Malnutrition, Pancreatic calcification, Weight loss, Chronic... ORPHA:103918
Hereditary Xanthinuria
Arthropathy, Rheumatoid arthritis, Poor appetite, Gout ORPHA:3467
Orofaciodigital Syndrome Vi
Epicanthus, Failure to thrive, Short stature, Hamartoma of tongue, Accessory oral frenulum, Cleft... OMIM:277170
Adult-Onset Autosomal Dominant Leukodystrophy
Flexion contracture, Malnutrition, Impotence, Constipation, Aspiration pneumonia, Dysphagia, Erec... ORPHA:99027
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Anemia, Tubulointerstitial nephritis, Gout OMIM:174000
Bickerstaff Brainstem Encephalitis
Respiratory failure requiring assisted ventilation, Pneumonia, Hypercapnia, Respiratory tract inf... ORPHA:79138
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2
Conjunctival telangiectasia, Increased circulating antibody level, Dysphagia OMIM:606002
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Epicanthus, Cleft upper lip, Esophageal atresia, Congenital hepatic fibrosis, Abnormal pelvis bon... ORPHA:93271
Tracheoesophageal Fistula With Or Without Esophageal Atresia
Esophageal atresia, Tracheoesophageal fistula OMIM:189960
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence
Downslanted palpebral fissures, Submucous cleft hard palate, Posteriorly placed tongue, Pierre-Ro... OMIM:192445
Autoimmune Pulmonary Alveolar Proteinosis
Cyanosis, Crazy paving pattern, Crackles, Dyspnea, Intraalveolar phospholipid accumulation, Weigh... ORPHA:747
Ovarian Dysgenesis 3
Primary amenorrhea, Female infertility, Delayed puberty OMIM:614324
Oculopharyngodistal Myopathy 1
Respiratory distress, Hypercapnia, Reduced forced vital capacity, Bilateral ptosis, Respiratory i... OMIM:164310
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome
Duodenal ulcer, Cachexia, Malabsorption, Chronic diarrhea, Steatorrhea, Cutaneous photosensitivit... ORPHA:3217
Microphthalmia, Syndromic 3
Vertebral fusion, Short stature, Hypogonadotropic hypogonadism, Postnatal growth retardation, Eso... OMIM:206900
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome
Glossoptosis, Rhizomelia, Upper airway obstruction, Cleft palate ORPHA:440354
Loeys-Dietz Syndrome 6
Knee osteoarthritis, High palate, Hip osteoarthritis, Striae distensae, Intervertebral disc degen... OMIM:619656
Alkaptonuria
Arthropathy, Vertebral fusion, Limited shoulder movement, Arthritis, Limited hip movement, Limita... OMIM:203500
Tetraamelia Syndrome 2
Absent nipple, Bilateral cleft lip, Hypoplastic pulmonary veins, Cleft palate, Glossoptosis, Bila... OMIM:618021
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z
Tongue atrophy, Flexion contracture of finger, Respiratory insufficiency due to muscle weakness, ... ORPHA:466768
Neuropathy, Hereditary Sensory, With Spastic Paraplegia, Autosomal Recessive
Foot osteomyelitis, Acral ulceration OMIM:256840
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Short stature, Intestinal malrotation, Hamartoma of tongue, Cleft upper lip, Cleft palate, Acetab... OMIM:613091
Cysticercosis
Iridocyclitis, Stiff neck, Infectious encephalitis, Increased circulating antibody level ORPHA:1560
Orofaciodigital Syndrome Iii
Hyperconvex nail, Supernumerary tooth, Tongue nodules, Microdontia, Bifid tongue, Bifid uvula OMIM:258850
Liposarcoma
Nausea and vomiting, Abdominal pain, Weight loss ORPHA:69078
Atrial Septal Defect, Ostium Secundum Type
Orthopnea, Cyanosis, Pneumonia, Breathing dysregulation, Increased pulmonary vascular resistance,... ORPHA:99103
Maternal Phenylketonuria
Epicanthus, Esophageal atresia, Bilateral ptosis, High palate, Long philtrum, Intrauterine growth... ORPHA:2209
Mild Phosphoribosylpyrophosphate Synthetase Superactivity
Arthritis ORPHA:411536
Hypoglossia-Hypodactyly Syndrome
Telecanthus, Jejunal atresia, Aplasia/Hypoplasia of the tongue, Abnormal fingernail morphology, F... ORPHA:989
Idiopathic Camptocormia
Abnormal inflammatory response, Myositis, Osteoarthritis, Myelitis ORPHA:1320
Fraser Syndrome
Anal stenosis, Dental crowding, Abnormal hair pattern, Cleft upper lip, Cryptorchidism, Dental ma... ORPHA:2052
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Weight loss OMIM:188580
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Weight loss OMIM:613239
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency
Neonatal respiratory distress, Spontaneous neonatal pneumothorax, Tachypnea, Intraalveolar phosph... ORPHA:217563
Atrial Septal Defect, Coronary Sinus Type
Cyanosis, Pneumonia, Increased pulmonary vascular resistance, Dyspnea, Anomalous pulmonary venous... ORPHA:99104
Charcot-Marie-Tooth Disease Type 1F
Tongue atrophy, Flexion contracture of finger ORPHA:101085
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction
Hypoventilation, Small intestinal dysmotility, Apnea, Feeding difficulties, Hypopnea, Chronic con... OMIM:619482
Carney-Stratakis Syndrome
Gastrointestinal hemorrhage, Intestinal obstruction, Abdominal pain, Gastrointestinal stroma tumo... ORPHA:97286
Stüve-Wiedemann Syndrome
Respiratory distress, Osteopenia, Apnea, Recurrent fractures, Camptodactyly of finger, Abnormalit... ORPHA:3206
Renal Cysts And Diabetes Syndrome
Elevated hepatic transaminase, Exocrine pancreatic insufficiency, Biliary tract abnormality, Gout... OMIM:137920
Calcific Aortic Disease With Immunologic Abnormalities, Familial
Increased circulating antibody level OMIM:114065
Hereditary Late-Onset Parkinson Disease
Chronic constipation, Weight loss, Dysphagia ORPHA:411602
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome
Ptosis, Short stature, Cachexia, Anorexia, Short hard palate, Genu varum ORPHA:1969
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency
Gout ORPHA:79233
Orofaciodigital Syndrome Type 14
Telecanthus, Hamartoma of tongue, Accessory oral frenulum, Bilateral cryptorchidism, Supernumerar... ORPHA:434179
Charcot-Marie-Tooth Disease Type 4C
Hypoventilation, Tongue atrophy, Respiratory insufficiency, Tongue fasciculations, Difficulty in ... ORPHA:99949
Medullary cystic kidney disease 2
Tubulointerstitial nephritis, Gout OMIM:603860
Orofaciodigital Syndrome Xiv
Natal tooth, Telecanthus, Hamartoma of tongue, Cleft lip, Supernumerary tooth, Patent ductus arte... OMIM:615948
Cerebrocostomandibular Syndrome
Neonatal respiratory distress, Short stature, Cleft palate, Feeding difficulties, Glossoptosis, W... ORPHA:1393
Thyrotoxic Periodic Paralysis
Respiratory paralysis, Constipation, Obesity, Weight loss ORPHA:79102
Vater/Vacterl Association
Postnatal growth retardation, Esophageal atresia, Patent ductus arteriosus, Tracheoesophageal fis... OMIM:192350
Gerstmann-Straussler Disease
Weight loss OMIM:137440
Split Cord Malformation
Bowel incontinence, Tufted hairs, Penetrating foot ulcers, Hydromyelia, Hypertrichosis ORPHA:573278
Parkinson Disease 4, Autosomal Dominant
Weight loss OMIM:605543
Primary Fanconi Renotubular Syndrome
Osteomalacia, Dehydration, Weight loss, Increased susceptibility to fractures, Growth delay, Pulm... ORPHA:3337
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Diarrhea, Small for gestational age, Weight loss ORPHA:424
Acquired Central Diabetes Insipidus
Weight loss ORPHA:95626
Barrett Esophagus
Esophageal ulceration, Esophageal carcinoma, Barrett esophagus, Gastroesophageal reflux OMIM:614266
Familial Gestational Hyperthyroidism
Diarrhea, Weight loss ORPHA:99819
Norrie Disease
Cachexia, Cryptorchidism, Thin vermilion border, Erectile dysfunction, Delayed puberty, Failure t... ORPHA:649

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 Sharpin

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 Sharpin.

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

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MGI Allele Allele Type Produced
Sharpintm1(KOMP)Wtsi Reporter-tagged deletion allele (with selection cassette) Targeting vectors, ES Cells
Sharpintm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells

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