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Gene: Dsg3 MGI:99499

Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:

desmoglein 3

Synonyms:

N/A

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 Dsg3 mutations

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

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

Human diseases associated with Dsg3 (1 diseases)
Human diseases predicted to be associated with Dsg3 (2169 diseases)

The table below shows human diseases associated to Dsg3 by orthology or direct annotation.

Disease	Similarity of phenotypes	Matching phenotypes	Source
Blistering, Acantholytic, Of Oral And Laryngeal Mucosa		Erosion of oral mucosa, Oral mucosal blisters	OMIM:619226

The table below shows human diseases predicted to be associated to Dsg3 by phenotypic similarity.

Disease	Matching phenotypes	Source
Syringocystadenoma Papilliferum	Sparse scalp hair, Subcutaneous nodule, Nevus sebaceous, Papule	ORPHA:840
Graham Little-Piccardi-Lassueur Syndrome	Sparse scalp hair, Alopecia, Sparse axillary hair, Sparse pubic hair, Perifollicular hyperkeratosis	ORPHA:505
Darier Disease	Macule, Hypermelanotic macule, Acrokeratosis, Abnormal hair morphology, Plantar pits, Anal mucosa...	ORPHA:218
Hypotrichosis 1	Sparse eyelashes, Sparse axillary hair, Sparse pubic hair, Sparse eyebrow, Abnormality of the nai...	OMIM:605389
Hypotrichosis Simplex	Sparse scalp hair, Alopecia, Sparse eyelashes, Sparse eyebrow, Sparse hair, Sparse body hair	ORPHA:55654
Epidermolysis Bullosa Simplex 6, Generalized Intermediate, With Or Without Cardiomyopathy	Alopecia, Diffuse palmoplantar hyperkeratosis, Onychogryposis of toenails, Dermal atrophy, Alopec...	OMIM:617294
Alopecia Areata 2	Alopecia of scalp, Patchy alopecia, Alopecia totalis, Alopecia universalis	OMIM:610753
Hypotrichosis 4	Sparse scalp hair, Alopecia, Sparse eyelashes, Sparse eyebrow, Uncombable hair, Sparse body hair	OMIM:146550
Hypotrichosis And Recurrent Skin Vesicles	Sparse scalp hair, Sparse eyelashes, Sparse axillary hair, Sparse eyebrow, Leukonychia, Skin vesi...	OMIM:613102
Alopecia Universalis Congenita	Absent eyebrow, Absent eyelashes, Absent pubic hair, Absent axillary hair, Alopecia universalis	OMIM:203655
Odonto-Onycho Dysplasia-Alopecia Syndrome	Alopecia, Abnormal fingernail morphology, Hypoplastic toenails, Sparse eyebrow, Palmoplantar kera...	ORPHA:2722
Hypotrichosis 11	Sparse or absent eyelashes, Alopecia universalis, Absent axillary hair, Sparse hair, Aplasia/Hypo...	OMIM:615059
Alopecia Areata 1	Trachyonychia, Alopecia totalis, Nail pits, Patchy alopecia, Alopecia universalis	OMIM:104000
Alopecia Universalis	Absent eyelashes, Absent eyebrow, Patchy alopecia, Alopecia universalis	ORPHA:701
Alopecia, Congenital	Sparse hair, Alopecia	OMIM:300042
Hypotrichosis 9	Sparse scalp hair, Sparse body hair	OMIM:614237
Ectodermal Dysplasia 6, Hair/Nail Type	Sparse hair, Alopecia, Thin toenail, Dystrophic toenail	OMIM:614928
Leukomelanoderma, Infantilism, Mental Retardation, Hypodontia, Hypotrichosis	Sparse hair	OMIM:246500
Alopecia Totalis	Alopecia, Alopecia of scalp	ORPHA:700
Parc Syndrome	Absent eyelashes, Absent eyebrow, Alopecia, Cleft palate	OMIM:600331
Alopecia-Intellectual Disability Syndrome 1	Alopecia, Alopecia universalis	OMIM:203650
Witkop Syndrome	Ridged nail, Concave nail, Nail pits, Fine hair, Small nail, Sparse hair	OMIM:189500
Hypotrichosis 10	Sparse eyebrow, Sparse eyelashes, Sparse body hair	OMIM:614238
Atrichia With Papular Lesions	Sparse hair	OMIM:209500
Trichodysplasia-Xeroderma Syndrome	Sparse scalp hair, Alopecia, Brittle hair, Sparse eyebrow, Sparse body hair, Coarse hair, Trichod...	ORPHA:3361
Perifolliculitis Capitis Abscedens Et Suffodiens, Familial	Alopecia, Alopecia of scalp	OMIM:260910
Severe Combined Immunodeficiency Due To Foxn1 Deficiency	Ridged nail, T lymphocytopenia, Nail pits, Congenital alopecia totalis	ORPHA:169095
Hypotrichosis 15	Sparse scalp hair	OMIM:620177
Hypotrichosis 2	Sparse scalp hair	OMIM:146520
Dystrophic Epidermolysis Bullosa Pruriginosa	Subcutaneous nodule, Increased circulating IgE level, Atrophic scars, Nail dystrophy, Dermal atro...	ORPHA:89843
Ichthyosis-Hypotrichosis Syndrome	Sparse hair	ORPHA:91132
Alopecia, Familial Focal	Patchy alopecia	OMIM:104110
Alopecia-Intellectual Disability Syndrome 3	Alopecia universalis	OMIM:613930
Alopecia-Intellectual Disability Syndrome 2	Alopecia universalis	OMIM:610422
Alopecia, Androgenetic, 1	Alopecia	OMIM:109200
Candidiasis, Familial, 1	Alopecia, Cutaneous anergy	OMIM:114580
Hidrotic Ectodermal Dysplasia	Slow-growing nails, Palmoplantar hyperkeratosis, Absent pubic hair, Sparse hair, Hyperkeratotic p...	ORPHA:189
Alopecia-Intellectual Disability-Hypergonadotropic Hypogonadism Syndrome	Alopecia totalis	ORPHA:1014
Angioma Serpiginosum, X-Linked	Sparse hair, Hyperkeratosis, Nail dystrophy, Fine hair	OMIM:300652
Epidermolysis Bullosa Simplex 5D, Generalized Intermediate, Autosomal Recessive	Alopecia, Plantar hyperkeratosis, Nail dystrophy	OMIM:616487
Hypotrichosis, Congenital, With Juvenile Macular Dystrophy	Sparse hair, Reduced terminal:vellus ratio, Pili torti	OMIM:601553
Hypotrichosis Simplex Of The Scalp	Abnormal eyebrow morphology, Sparse scalp hair, Absent facial hair, Abnormality of the pubic hair...	ORPHA:90368
Ectodermal Dysplasia 9, Hair/Nail Type	Concave nail, Absent eyelashes, Atrichia, Nail dystrophy, Nail dysplasia, Sparse hair, Absent hair	OMIM:614931
Tooth Agenesis, Selective, 8	Sparse eyebrow, Dry skin, Sparse hair	OMIM:617073
Monilethrix	Alopecia, Brittle hair, Abnormality of hair texture, Perifollicular hyperkeratosis, Nail dystroph...	OMIM:158000
L-Ferritin Deficiency	Alopecia	OMIM:615604
Epidermolysis Bullosa Simplex With Mottled Pigmentation	Alopecia, Plantar hyperkeratosis, Hypermelanotic macule, Spotty hypopigmentation, Hypomelanotic m...	ORPHA:79397
Localized Dystrophic Epidermolysis Bullosa, Pretibial Form	Abnormal fingernail morphology, Skin erosion, Localized skin lesion, Erythematous papule, Atypica...	ORPHA:79410
Osteopenia And Sparse Hair	Sparse hair	OMIM:259690
Inflammatory Poikiloderma With Hair Abnormalities And Acral Keratoses	Sparse scalp hair, Absent eyebrow, Sparse eyelashes, Acrokeratosis, Sparse eyebrow	OMIM:620199
Hypotrichosis 6	Brittle hair, Sparse eyelashes, Sparse eyebrow, Erythema, Follicular hyperkeratosis, Sparse hair,...	OMIM:607903
Palmoplantar Keratoderma And Congenital Alopecia 1	Alopecia, Plantar hyperkeratosis, Brittle hair, Epidermal hyperkeratosis, Sparse eyebrow, Leukony...	OMIM:104100
Epidermolysis Bullosa Simplex With Muscular Dystrophy	Alopecia, Aplasia/Hypoplasia of the skin, Hyperconvex fingernails, Dermal atrophy, Skin vesicle, ...	ORPHA:257
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome	Sparse scalp hair, Abnormal eyelash morphology, Melanocytic nevus, Sparse body hair, Alopecia uni...	ORPHA:1008
Ectodermal Dysplasia 4, Hair/Nail Type	Absent eyebrow, Alopecia, Brittle hair, Absent eyelashes, Onycholysis, Nail dystrophy, Sparse bod...	OMIM:602032
Peeling Skin With Leukonychia, Acral Punctate Keratoses, Cheilitis, And Knuckle Pads	Epidermal acanthosis, Angular cheilitis, Acantholysis, Punctate palmoplantar hyperkeratosis, Chei...	OMIM:616295
Woolly Hair, Autosomal Recessive 3	Sparse scalp hair, Curly hair, Sparse eyelashes, Fine hair, Sparse hair, Trichorrhexis nodosa	OMIM:616760
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy	Ridged nail, Alopecia, Decreased helper T cell proportion, Nail pits, T lymphocytopenia, Nail dys...	OMIM:601705
Palmoplantar Keratoderma And Congenital Alopecia 2	Alopecia totalis, Palmoplantar hyperkeratosis, Facial erythema, Hyperkeratosis, Nail dystrophy, N...	OMIM:212360
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma	Alopecia, Sparse eyelashes, Acantholysis, Sparse eyebrow, Palmoplantar hyperkeratosis, Palmoplant...	OMIM:605676
Axin2-Related Attenuated Familial Adenomatous Polyposis	Adenomatous colonic polyposis, Neoplasm of the rectum, Colorectal polyposis, Colon cancer, Sparse...	ORPHA:401911
Erythrokeratodermia Variabilis Et Progressiva 2	Skin plaque, Erythema, Palmoplantar keratoderma, Hypertrichosis	OMIM:617524
Dowling-Degos Disease	Hypopigmented macule, Abnormal fingernail morphology, Epidermoid cyst, Hypermelanotic macule, Pal...	ORPHA:79145
Peeling Skin Syndrome 1	Brittle hair, Eosinophilia, Increased circulating IgE level, Onycholysis, Scaling skin, Nail dyst...	OMIM:270300
Thumb Deformity And Alopecia	Alopecia	OMIM:188150
Hidrotic Ectodermal Dysplasia, Christianson-Fourie Type	Sparse scalp hair, Absent eyebrow, Sparse eyelashes, Sparse axillary hair, Abnormal hair morpholo...	ORPHA:1808
Autosomal Recessive Palmoplantar Keratoderma And Congenital Alopecia	Aplasia/Hypoplasia of the skin, Alopecia totalis, Subcutaneous nodule, Lack of skin elasticity, A...	ORPHA:1366
Hypotrichosis 7	Sparse scalp hair, Brittle hair, Sparse eyelashes, Sparse axillary hair, Abnormal sweat gland mor...	OMIM:604379
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Alopecia, Psoriasiform lesion, Eosinophilia, Increased circulating IgA level, Autoimmune thromboc...	ORPHA:169154
Epidermolysis Bullosa Simplex With Circinate Migratory Erythema	Parakeratosis, Palmoplantar hyperkeratosis, Nail dystrophy, Erythema migrans, Skin vesicle	ORPHA:158681
Hypotrichosis 8	Ridged nail, Sparse scalp hair, Dry hair, Sparse eyelashes, Sparse axillary hair, Sparse eyebrow,...	OMIM:278150
Pseudopelade Of Brocq	Sparse scalp hair, Alopecia, Abnormal hair morphology, Papule, Abnormality of the nail, Aplasia/H...	ORPHA:129
Pili Torti-Onychodysplasia Syndrome	Absent eyebrow, Alopecia, Brittle hair, Absent eyelashes, Dry skin, Cleft palate, Palmoplantar ke...	ORPHA:2890
Erythema Elevatum Diutinum	Skin vesicle, Skin nodule, Increased circulating antibody level	ORPHA:90000
Monilethrix	Abnormal eyebrow morphology, Brittle hair, Slow-growing hair, Abnormal eyelash morphology, Fine h...	ORPHA:573
Anonychia With Flexural Pigmentation	Hypermelanotic macule, Abnormal hair morphology, Hyperkeratosis, Alopecia of scalp, Follicular hy...	ORPHA:69125
Lichen Planus Pemphigoides	Hyperkeratosis, Conjunctivitis, Skin vesicle, Blepharitis, Abnormality of the nail	ORPHA:254478
Intermediate Generalized Junctional Epidermolysis Bullosa	Scarring alopecia of scalp, Atrophic scars, Palmoplantar keratoderma, Nail dystrophy, Milia, Apla...	ORPHA:79402
Autosomal Recessive Hypohidrotic Ectodermal Dysplasia	Alopecia, Abnormal fingernail morphology, Abnormal hair morphology, Fine hair, Abnormal toenail m...	ORPHA:248
Focal Facial Dermal Dysplasia Type I	Absent eyelashes, Low anterior hairline, Spotty hypopigmentation, Atrophic scars, Skin dimple, Sp...	ORPHA:79133
Quinquaud Folliculitis Decalvans	Abnormal hair morphology, Scarring alopecia of scalp, Erythema, Patchy alopecia	ORPHA:346
Acrokeratosis Verruciformis Of Hopf	Parakeratosis, Epidermal acanthosis, Acantholysis, Skin-colored papule, Punctate palmoplantar hyp...	ORPHA:79151
Marie Unna Hereditary Hypotrichosis	Sparse scalp hair, Alopecia, Sparse or absent eyelashes, Coarse hair, Aplasia/Hypoplasia of the e...	ORPHA:444
Shwachman-Diamond Syndrome 2	Normocytic anemia, Subglottic stenosis, Short stature, Anterior rib cupping, Exocrine pancreatic ...	OMIM:617941
Lichen Planopilaris	Alopecia, Abnormal fingernail morphology, Hypopigmented skin patches, Skin ulcer, Hyperkeratosis,...	ORPHA:525
Pemphigoid Gestationis	Skin vesicle, Intrauterine growth retardation, Failure to thrive	ORPHA:63275
Pemphigus Vulgaris	Atypical scarring of skin, Recurrent cutaneous abscess formation, Acantholysis, Weight loss	ORPHA:704
Ectodermal Dysplasia, Trichoodontoonychial Type	Abnormal eyelash morphology, Melanocytic nevus, Sparse hair, Abnormal toenail morphology, Sparse ...	ORPHA:1818
Moynahan Syndrome	Sparse hair, Hyperkeratosis, Alopecia	ORPHA:2574
Granulomatosis With Polyangiitis	Episcleritis, Subglottic stenosis, Sinusitis, Tracheal stenosis, Keratitis, Oral ulcer, Uveitis, ...	OMIM:608710
Pruritic Urticarial Papules And Plaques Of Pregnancy	Urticarial plaque, Parakeratosis, Increased body weight, Erythematous papule, Facial erythema, Er...	ORPHA:64745
X-Linked Agammaglobulinemia	Sinusitis, Sepsis, Glossoptosis, Conjunctivitis, Neutropenia, Chronic otitis media, Meningitis, R...	ORPHA:47
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome	Alopecia, Hypopigmented skin patches, Palmoplantar keratoderma, Fingernail dysplasia, Sparse hair...	ORPHA:2251
Kerion Celsi	Alopecia	ORPHA:499
Aredyld	Generalized hypotrichosis	OMIM:207780
Pemphigus Foliaceus	Psoriasiform dermatitis, Acantholysis, Pustule, Erythema, Crusting erythematous dermatitis, Eryth...	ORPHA:79481
Keratosis Follicularis Spinulosa Decalvans, X-Linked	Sparse eyelashes, Corneal dystrophy, Keratitis, Sparse eyebrow, Scarring alopecia of scalp, Facia...	OMIM:308800
Schopf-Schulz-Passarge Syndrome	Ridged nail, Narrow nail, Thin nail, Poroma, Hyperkeratosis, Palmoplantar keratoderma, Onycholysi...	OMIM:224750
Uncombable Hair Syndrome	Abnormal hair morphology, White hair, Coarse hair, Patchy alopecia, Trichodysplasia, Woolly hair	ORPHA:1410
Frontometaphyseal Dysplasia 2	Subglottic stenosis, Congenital hip dislocation, Elbow contracture, Feeding difficulties in infan...	OMIM:617137
Trichodysplasia-Amelogenesis Imperfecta Syndrome	Alopecia of scalp, Trichodysplasia	ORPHA:79129
Familial Benign Chronic Pemphigus	Acantholysis, Erythema, Hyperkeratosis, Skin vesicle, Skin erosion	ORPHA:2841
Palmoplantar Keratoderma And Woolly Hair	Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Leukonychia, Palmoplantar keratoderma, Wooll...	OMIM:616099
Erythrokeratodermia Variabilis	Macule, Alopecia, Cataract, Skin rash, Corneal opacity, Short stature, Hypermelanotic macule, Abn...	ORPHA:317
Acrodermatitis Enteropathica	Ridged nail, Abnormal eyelid morphology, Paronychia, Conjunctivitis, Abnormality of the nail, Alo...	ORPHA:37
Clouston Syndrome	Alopecia, Cataract, Sparse eyelashes, Brittle hair, Alopecia totalis, Slow-growing hair, Sparse e...	OMIM:129500
Keratoderma Hereditarium Mutilans	Alopecia, Honeycomb palmoplantar hyperkeratosis, Cleft palate, Hyperkeratosis, Abnormal toenail m...	ORPHA:494
Immunodeficiency With Hyper-Igm, Type 3	Impaired Ig class switch recombination, Impaired memory B cell generation, Increased circulating ...	OMIM:606843
Pili Torti	Abnormal eyebrow morphology, Alopecia, Brittle hair, Abnormality of hair texture, Abnormality of ...	ORPHA:2889
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant	Alopecia, Cataract, Sparse eyelashes, Sparse eyebrow, Keratitis, Scarring alopecia of scalp, Faci...	OMIM:612843
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency	Abnormal immunoglobulin level, Increased T cell count, Increased circulating IgE level, Decreased...	ORPHA:98813
Epidermolysis Bullosa, Lethal Acantholytic	Alopecia totalis, Aplasia cutis congenita, Acantholysis, Absent fingernail, Skin erosion, Anonych...	OMIM:609638
Esophageal Atresia	Subglottic stenosis, Respiratory distress, Maternal diabetes, Feeding difficulties in infancy, Ga...	ORPHA:1199
Crandall Syndrome	Alopecia, Brittle hair, Fine hair, Pili torti, Sparse body hair, Aplasia/Hypoplasia of the eyebrow	ORPHA:202
Bullous Dystrophy, Hereditary Macular Type	Alopecia totalis, Abnormality of the nail	OMIM:302000
Hypotrichosis 5	Alopecia, Sparse eyelashes, Abnormal sweat gland morphology, Absent pubic hair, Thin eyebrow, Abs...	OMIM:612841
Proliferating Trichilemmal Cyst	Sparse scalp hair, Epidermoid cyst, Skin ulcer	ORPHA:492
Pachyonychia Congenita 1	Palmoplantar hyperkeratosis, Nail dystrophy, Follicular hyperkeratosis, Oral leukoplakia, Onychog...	OMIM:167200
Autosomal Agammaglobulinemia	Sinusitis, Sepsis, Conjunctivitis, High palate, Cough, Neutropenia, Chronic otitis media, Meningi...	ORPHA:33110
Warty Dyskeratoma	Abnormal fingernail morphology, Acrokeratosis, Umbilicated nodule, Skin-colored papule, Acantholy...	ORPHA:69745
Iga Pemphigus	Monoclonal elevation of circulating IgA, Eosinophilia, Increased circulating IgA level, Annular c...	ORPHA:555905
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Subglottic stenosis, Decreased response to growth hormone stimulation test, Hypoplastic toenails,...	ORPHA:444077
Rothmund-Thomson Syndrome, Type 1	Absent eyebrow, Thin nail, Absent eyelashes, Hyperkeratosis, Nail dystrophy, Sparse hair, Cafe-au...	OMIM:618625
Anaplastic Thyroid Carcinoma	Respiratory distress, Dyspnea, Laryngotracheal stenosis, Tracheoesophageal fistula, Upper airway ...	ORPHA:142
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive	Pneumonia, Purulent rhinitis, Diarrhea, Recurrent opportunistic infections, Arthritis, T lymphocy...	OMIM:601457
Ectodermal Dysplasia 10A, Hypohidrotic/Hair/Nail Type, Autosomal Dominant	Ridged nail, Sparse eyelashes, Slow-growing hair, Sparse eyebrow, Fine hair, Sparse hair, Dry skin	OMIM:129490
Immunodeficiency 53	Impaired lymphocyte transformation with phytohemagglutinin, Recurrent urinary tract infections, N...	OMIM:617585
Spondyloepimetaphyseal Dysplasia, Sponastrime Type	Subglottic stenosis, Thoracic kyphosis, Neutropenia, Lumbar interpedicular narrowing, Genu varum,...	OMIM:271510
Bazex-Dupré-Christol Syndrome	Sparse scalp hair, Sparse eyebrow, Subcutaneous nodule, Sparse or absent eyelashes, Coarse hair, ...	ORPHA:113
Lipoid Proteinosis Of Urbach And Wiethe	Hyperkeratosis, Patchy alopecia, Skin erosion, Skin plaque, Papule	OMIM:247100
Pachyonychia Congenita	Alopecia, Epidermoid cyst, Paronychia, Onychogryposis of toenails, Linear arrays of macular hyper...	ORPHA:2309
Hidrotic Ectodermal Dysplasia, Halal Type	Sparse scalp hair, Absent eyebrow, Abnormal fingernail morphology, Supernumerary nipple, Absent e...	ORPHA:1809
Woolly Hair, Hypotrichosis, Everted Lower Lip, And Outstanding Ears	Sparse hair, Woolly hair	OMIM:278200
Ectodermal Dysplasia/Skin Fragility Syndrome	Absent eyebrow, Absent eyelashes, Palmoplantar hyperkeratosis, Nail dystrophy, Scaling skin, Spar...	OMIM:604536
Pyoderma Gangrenosum	Skin ulcer, Atrophic scars, Increased circulating antibody level, Skin vesicle, Myeloid leukemia,...	ORPHA:48104
Poikiloderma With Neutropenia	Leukopenia, Conjunctivitis, Neutropenia, Short stature, Sparse eyebrow, Recurrent bronchopulmonar...	OMIM:604173
Autosomal Dominant Hyper-Ige Syndrome	Eosinophilia, Abnormal hair morphology, Paronychia, Increased circulating IgE level, Skin ulcer, ...	ORPHA:2314
Choanal Atresia	Subglottic stenosis, Respiratory distress, Recurrent respiratory infections, Craniosynostosis, Up...	ORPHA:137914
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige	Psoriasiform dermatitis, Recurrent skin infections, Eosinophilic infiltration of the esophagus, M...	OMIM:615508
Severe Generalized Junctional Epidermolysis Bullosa	Respiratory distress, Laryngeal stenosis, Abnormal oral mucosa morphology, Paronychia, Sepsis, Ga...	ORPHA:79404
Isolated Congenital Hypoglossia/Aglossia	Respiratory distress, Dyspnea, Nasogastric tube feeding in infancy, Upper airway obstruction, Cle...	ORPHA:141152
Hair Defect With Photosensitivity And Mental Retardation	Brittle hair, Sparse eyelashes, Sparse eyebrow, Coarse hair, Sparse hair	OMIM:234030
Lethal Acantholytic Erosive Disorder	Absent eyebrow, Acantholysis, Absent eyelashes, Cleft palate, Absent toenail, Absent fingernail, ...	ORPHA:158687
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections	Increased circulating interleukin 6 concentration, Increased circulating IgE level, Decreased pro...	OMIM:618944
Trichothiodystrophy 9, Nonphotosensitive	Sparse eyebrow, High, narrow palate, Nail dystrophy, Sparse hair, Tiger tail banding	OMIM:619692
Kindler Epidermolysis Bullosa	Laryngeal stenosis, Flexion contracture, Gingivitis, Inflammation of the large intestine, Colitis...	ORPHA:2908
Darier-White Disease	Ridged nail, Acrokeratosis, Hypermelanotic macule, Acantholysis, Palmar pits, Plantar pits, Enlar...	OMIM:124200
Ectodermal Dysplasia 15, Hypohidrotic/Hair Type	Sparse scalp hair, Sparse eyelashes, Slow-growing hair, Palmoplantar keratoderma, Sparse hair, Dr...	OMIM:618535
Spondyloepimetaphyseal Dysplasia, Shohat Type	Laryngeal stenosis, Severe short stature, Hyperlordosis, Abdominal distention, Premature osteoart...	ORPHA:93352
Pachyonychia Congenita 2	Subungual hyperkeratosis, Dry hair, Sparse scalp hair, Epidermoid cyst, Sparse eyebrow, Palmoplan...	OMIM:167210
Ectodermal Dysplasia-Syndactyly Syndrome 1	Sparse scalp hair, Alopecia, Sparse eyelashes, Absent facial hair, Hypoplastic toenails, Coarse h...	OMIM:613573
Pemphigus Erythematosus	Focal dermal aplasia/hypoplasia, Acantholysis, Localized skin lesion, Hypopigmented skin patches,...	ORPHA:79480
Acrokeratosis Verruciformis	Ridged nail, Epidermal acanthosis, Acrokeratosis, Punctate palmoplantar hyperkeratosis, Verrucous...	OMIM:101900
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type	Laryngeal stenosis, Multiple joint dislocation, Genu varum, Short stature, Neonatal short-trunk s...	ORPHA:93360
Flynn-Aird Syndrome	Hyperkeratosis, Alopecia, Alopecia of scalp, Dermal atrophy	OMIM:136300
Immunodeficiency 25	Autoimmune hemolytic anemia, Eosinophilia, Increased circulating IgA level, Increased circulating...	OMIM:610163
Hypohidrotic Ectodermal Dysplasia-Hypothyroidism-Ciliary Dyskinesia Syndrome	Sparse scalp hair, Alopecia, Sparse eyebrow, Fine hair, Melanocytic nevus, Dystrophic fingernails...	ORPHA:1882
Cronkhite-Canada Syndrome	Anorexia, Hypoplastic toenails, Hamartomatous polyposis, Stomach cancer, Dystrophic fingernails, ...	ORPHA:2930
Carey-Fineman-Ziter Syndrome	Laryngeal stenosis, Epicanthus, Short stature, Aplasia/Hypoplasia of the tongue, Pierre-Robin seq...	ORPHA:1358
Classic Mycosis Fungoides	Alopecia, Erythema, Hypopigmented skin patches, Skin ulcer, Skin plaque, Hyperkeratosis, Dry skin...	ORPHA:2584
Ectodermal Dysplasia 7, Hair/Nail Type	Sparse scalp hair, Alopecia, Brittle hair, Sparse eyelashes, Abnormal sweat gland morphology, Spa...	OMIM:614929
Tularemia	Respiratory distress, Brain abscess, Pharyngitis, Skin rash, Pneumonia, Erythema nodosum, Thrombo...	ORPHA:3392
Immunodeficiency, Common Variable, 8, With Autoimmunity	Atrophic gastritis, Villous atrophy, Sepsis, Uveitis, Inflammation of the large intestine, Coliti...	OMIM:614700
Pycnodysostosis	Ridged nail, Persistent open anterior fontanelle, Decreased response to growth hormone stimulatio...	ORPHA:763
Immunodeficiency 103, Susceptibility To Fungal Infections	Abnormal B cell count, Increased circulating IgE level, Hypereosinophilia, Abnormal proportion of...	OMIM:212050
Dyskeratosis Congenita	White hair, Hyperhidrosis, Premature graying of hair, Periodontitis, Skin vesicle, Sparse hair, M...	ORPHA:1775
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Respiratory distress, Flexion contracture, Sepsis, Leukopenia, Conjunctivitis, Thoracic kyphosis,...	ORPHA:505248
Diastrophic Dysplasia	Hip contracture, Lumbar hyperlordosis, Small for gestational age, Cervical kyphosis, Kyphoscolios...	OMIM:222600
Keratoderma Hereditarium Mutilans With Ichthyosis	Parakeratosis, Alopecia, Scaling skin on fingertip, Honeycomb palmoplantar hyperkeratosis, Palmop...	ORPHA:79395
Geleophysic Dysplasia 3	Subglottic stenosis, Short stature, Pneumonia, Limited elbow movement, Limited wrist movement, Dy...	OMIM:617809
Acute Generalized Exanthematous Pustulosis	Predominantly dermal neutrophilic infiltrate, Acantholysis, Pustule, Cheilitis, Eosinophilic derm...	ORPHA:293173
Basaloid Follicular Hamartoma Syndrome, Generalized, Autosomal Dominant	Palmar pits, Sparse scalp hair, Papule, Comedo	OMIM:605827
Dermoodontodysplasia	Sparse scalp hair, Melanocytic nevus, Fingernail dysplasia, Thin skin, Trichodysplasia, Dry skin,...	ORPHA:1660
Dermatitis, Atopic	Keratoconus, Cataract, Recurrent skin infections, Eczema, Allergic rhinitis, Atopic dermatitis, F...	OMIM:603165
Kid Syndrome	Angular cheilitis, Posterior blepharitis, Scarring alopecia of scalp, Recurrent cutaneous fungal ...	ORPHA:477
Microcephalic Primordial Dwarfism, Dauber Type	Subglottic stenosis, Short stature, Abnormal carpal morphology, Madelung deformity, Obesity, Prim...	ORPHA:319675
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections	Alopecia, Eosinophilia, Increased circulating IgE level, Sterile abscess, Decreased circulating I...	OMIM:618282
Immunodeficiency, Common Variable, 1	Pneumonia, Splenomegaly, Diarrhea, Recurrent pneumonia, Bronchiectasis, Neutropenia in presence o...	OMIM:607594
Björnstad Syndrome	Alopecia, Brittle hair	ORPHA:123
Olmsted Syndrome 2	Parakeratosis, Perioral hyperkeratosis, Palmoplantar hyperkeratosis, Hyperkeratosis, Palmoplantar...	OMIM:619208
Nasolacrimal Duct Cyst	Chronic irritative conjunctivitis, Intercostal retractions, Abnormal lacrimal sac morphology, Dac...	ORPHA:141083
Wells Syndrome	Skin vesicle, Eosinophilia	ORPHA:901
Pseudoprogeria Syndrome	Absent eyebrow, Alopecia, Short stature, Absent eyelashes, Sparse eyebrow, Growth delay, Thin ski...	ORPHA:2985
Woolly Hair	Hypopigmentation of hair, Brittle hair, Slow-growing hair, Abnormality of hair texture, Fine hair...	ORPHA:170
Immunodeficiency 18	Recurrent respiratory infections, Recurrent gastroenteritis, Recurrent otitis media, Decreased pr...	OMIM:615615
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation	Increased circulating IgE level, Hepatosplenomegaly, Increased proportion of memory T cells, Incr...	OMIM:618982
Inflammatory Skin And Bowel Disease, Neonatal, 2	Increased circulating IgE level, Long eyelashes, Papule	OMIM:616069
Naxos Disease	Subungual hyperkeratosis, Curly hair, Epidermal acanthosis, Acantholysis, Sparse eyebrow, Diffuse...	OMIM:601214
Toxic Epidermal Necrolysis	Macule, Entropion, Malabsorption, Intestinal perforation, Acantholysis, Corneal erosion, Erythema...	ORPHA:537
Olmsted Syndrome, X-Linked	Subungual hyperkeratosis, Parakeratosis, Alopecia totalis, Palmoplantar hyperkeratosis, Hyperkera...	OMIM:300918
Superficial Epidermolytic Ichthyosis	Palmoplantar keratoderma, Erythema, Thin skin, Acantholysis	ORPHA:455
Agammaglobulinemia 6, Autosomal Recessive	Diarrhea, Recurrent pneumonia, Abnormal T cell morphology, Recurrent bacterial infections, Conjun...	OMIM:612692
Renpenning Syndrome	Decreased testicular size, Abnormal hairshaft morphology, Epicanthus, Cataract, Diabetes mellitus...	ORPHA:3242
Marshall-Smith Syndrome	Irregular dentition, Thoracic scoliosis, Brittle hair, Apnea, Bilateral cryptorchidism, Synophrys...	OMIM:602535
Mental Retardation, Microcephaly, Growth Retardation, Joint Contractures, And Facial Dysmorphism	Sparse hair, Widow's peak, Thick eyebrow	OMIM:606242
Immunodeficiency 46	Chronic oral candidiasis, Recurrent sinopulmonary infections, Intermittent thrombocytopenia, Chro...	OMIM:616740
Schöpf-Schulz-Passarge Syndrome	Sparse hair, Alopecia, Palmoplantar keratoderma, Aplasia/Hypoplasia of the eyebrow	ORPHA:50944
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Lymphopenia, Aplasia of the thymus, Eosinophilia, Splenomegaly, Increased circulating IgE level, ...	OMIM:602450
Oliver-Mcfarlane Syndrome	Alopecia, Central heterochromia, Severe short stature, Small for gestational age, Long eyebrows, ...	OMIM:275400
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Respiratory distress, Myositis, Secretory diarrhea, Sepsis, Tubulointerstitial nephritis, Iron de...	ORPHA:37042
Netherton Syndrome	Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Abnormal hair morphology, Increased circulat...	ORPHA:634
Localized Junctional Epidermolysis Bullosa	Sparse axillary hair, Sparse pubic hair, Scarring alopecia of scalp, Atrophic, patchy alopecia, A...	ORPHA:251393
Atelosteogenesis Type Ii	Laryngeal stenosis, Epicanthus, Telecanthus, Bilateral cleft palate, Cervical kyphosis, Thoracolu...	ORPHA:56304
Chromosome 8Q22.1 Duplication Syndrome	Laryngeal stenosis, Enlarged interphalangeal joints, Genu recurvatum, Interphalangeal joint contr...	OMIM:151200
Trichodental Dysplasia	Sparse hair, Brittle hair, Slow-growing hair, Fine hair	OMIM:601453
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Hemolytic anemia, Autoimmune hemolytic anemia, Decreased proportion of CD4+CD25+ regulatory T cel...	OMIM:606367
Focal Facial Dermal Dysplasia 3, Setleis Type	Low anterior hairline, Absent lower eyelashes, Sparse hair, Distichiasis, Anal atresia	OMIM:227260
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma	Alopecia, Hypermelanotic macule, Dry skin, Palmoplantar keratoderma, Hypomelanotic macule, Nail d...	OMIM:618373
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia	Sparse scalp hair, Alopecia, Abnormal fingernail morphology, Hypoplastic toenails, Fingernail dys...	ORPHA:2325
Porphyria Cutanea Tarda	Facial hypertrichosis, Alopecia, Onycholysis	OMIM:176100
Frontometaphyseal Dysplasia 1	Selective tooth agenesis, Limited elbow movement, Absent frontal sinuses, Knee flexion contractur...	OMIM:305620
Mucolipidosis Type Ii	Dry hair, White hair, Knee flexion contracture, Otitis media, Shallow orbits, Prominent metopic r...	ORPHA:576
Hypotrichosis 13	Sparse hair, Woolly hair, Sparse eyelashes, Abnormal sweat gland morphology	OMIM:615896
Elastosis Perforans Serpiginosa	Epidermal acanthosis, Skin-colored papule, Crusting erythematous dermatitis, Cutis laxa, Hyperker...	ORPHA:79148
Avian Influenza	Respiratory distress, Nonproductive cough, Tachypnea, Sepsis, Leukopenia, Conjunctivitis, Vomitin...	ORPHA:454836
Immunodeficiency, Common Variable, 12, With Autoimmunity	Alopecia, Autoimmune hemolytic anemia, Pyoderma gangrenosum, Decreased circulating antibody level...	OMIM:616576
Cortisone Reductase Deficiency 1	Alopecia, Hirsutism	OMIM:604931
Recurrent Respiratory Papillomatosis	Respiratory distress, Nonproductive cough, Wheezing, Recurrent pneumonia, Tachypnea, Dyspnea, Res...	ORPHA:60032
Bazex-Dupre-Christol Syndrome	Furrowed tongue, Coarse hair, Milia, Nevus, Sparse hair, Trichoepithelioma, Pili torti, Trichorrh...	OMIM:301845
Thoracolaryngopelvic Dysplasia	Laryngeal stenosis, Irregular chondrocostal junctions, Irregular vertebral endplates, Short ribs,...	OMIM:187760
Immunodeficiency, Common Variable, 3	Recurrent respiratory infections, Decreased proportion of class-switched memory B cells, Recurren...	OMIM:613493
Neurodevelopmental Disorder With Hypotonia, Craniofacial Abnormalities, And Seizures	Subglottic stenosis, Exaggerated cupid's bow, Small for gestational age, Feeding difficulties, Wi...	OMIM:614501
Alopecia Antibody Deficiency	Abnormal eyelash morphology, Decreased circulating antibody level, Sparse hair, Sparse body hair,...	ORPHA:1006
Immunodeficiency 95	Respiratory distress, Recurrent respiratory infections, Recurrent viral upper respiratory tract i...	OMIM:619773
Focal Facial Dermal Dysplasia Type Iii	Aplasia/Hypoplasia of the skin, Sparse lower eyelashes, Redundant skin, Abnormal hair pattern, Hi...	ORPHA:1807
Tracheobronchopathia Osteochondroplastica	Recurrent respiratory infections, Pneumonia, Productive cough, Wheezing, Recurrent pneumonia, Upp...	ORPHA:3348
Hypohidrotic Ectodermal Dysplasia	Abnormal hair quantity, Failure to thrive, Sinusitis, Slow-growing hair, Eczema, Trichorrhexis no...	ORPHA:238468
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome	Decreased proportion of CD8-positive T cells, Increased circulating IgE level, Increased circulat...	OMIM:617241
Dermatitis Herpetiformis	Macule, Skin vesicle, Erythema, Microcytic anemia	ORPHA:1656
Acrofacial Dysostosis 1, Nager Type	Subglottic stenosis, Sparse lower eyelashes, Aganglionic megacolon, Congenital diaphragmatic hern...	OMIM:154400
Sponastrime Dysplasia	Subglottic stenosis, Neutropenia, Microdontia, Hypothyroidism, Lumbar hyperlordosis, Rhizomelia, ...	ORPHA:93357
Hypotrichosis 12	Sparse scalp hair, Dry hair, Slow-growing hair, Sparse axillary hair, Abnormal sweat gland morpho...	OMIM:615885
Netherton Syndrome	Sparse scalp hair, Brittle hair, Brittle scalp hair, Sparse eyebrow, Increased circulating IgE le...	OMIM:256500
Brown-Vialetto-Van Laere Syndrome 1	Respiratory distress, Respiratory failure requiring assisted ventilation, Tongue atrophy, Recurre...	OMIM:211530
Aphonia-Deafness-Retinal Dystrophy-Bifid Halluces-Intellectual Disability Syndrome	Laryngeal stenosis, Short nail, Bilateral ptosis, Narrow mouth, Feeding difficulties, Flexion con...	ORPHA:324540
Opitz Gbbb Syndrome	Congenital diaphragmatic hernia, Feeding difficulties in infancy, Vertebral segmentation defect, ...	ORPHA:2745
Histiocytosis, Familial Lipochrome	Increased circulating antibody level, Histiocytosis	OMIM:235900
Aredyld Syndrome	Smooth philtrum, Lipoatrophy, Abnormal dental enamel morphology, Cachexia, Short stature, Splenom...	ORPHA:1133
Atelosteogenesis Type I	Joint dislocation, Laryngeal stenosis, Telecanthus, Rhizomelia, Malrotation of colon, Laryngotrac...	ORPHA:1190
Olmsted Syndrome 1	Subungual hyperkeratosis, Parakeratosis, Hyperparakeratosis, Periorificial hyperkeratosis, Palmop...	OMIM:614594
Stevens-Johnson Syndrome	Macule, Entropion, Acantholysis, Corneal erosion, Erythema, Esophageal stricture, Weight loss, Co...	ORPHA:36426
Frontometaphyseal Dysplasia	Subglottic stenosis, Limited elbow movement, Oligodontia, Spina bifida occulta, Wrist flexion con...	ORPHA:1826
Immunodeficiency 104	Pneumonia, Eczema, Splenomegaly, Diarrhea, Recurrent opportunistic infections, Oral ulcer, Chroni...	OMIM:608971
Porphyria Variegata	Localized skin lesion, Ileus, Skin vesicle, Skin erosion, Milia, Hypertrichosis	ORPHA:79473
Trichothiodystrophy 1, Photosensitive	Brittle hair, Flexion contracture, Microcornea, Sparse hair, Tiger tail banding, Trichoschisis, S...	OMIM:601675
Kimura Disease	Increased circulating IgE level, Eosinophilia	ORPHA:482
Immunodeficiency, Common Variable, 11	Decreased proportion of class-switched memory B cells, Decreased circulating IgG level, Increased...	OMIM:615767
Verrucous Hemangioma	Hyperkeratotic papule, Inflammatory abnormality of the skin, Skin plaque, Epidermal acanthosis	ORPHA:464318
Centrifugal Lipodystrophy	Reduced subcutaneous adipose tissue, Alopecia, Inflammatory abnormality of the skin, Lipoatrophy,...	ORPHA:90156
Fibrodysplasia Ossificans Progressiva	Alopecia, Subcutaneous nodule, Anemia	ORPHA:337
Alpha-Heavy Chain Disease	Splenomegaly, Alopecia, Dysgammaglobulinemia, Anemia	ORPHA:100025
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Alopecia, Eosinophilia, Autoimmune thrombocytopenia, Thrombocytopenia, Increased circulating IgE ...	OMIM:304790
Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction	11 pairs of ribs, Recurrent respiratory infections, Neonatal respiratory distress, Wide nasal bri...	OMIM:618356
Cerebellar Ataxia-Ectodermal Dysplasia Syndrome	Sparse hair, Fine hair	ORPHA:1174
Neurodevelopmental Disorder With Hypotonia, Language Delay, And Skeletal Defects With Or Without Seizures	Thin upper lip vermilion, Anal stenosis, Sparse scalp hair, Postnatal growth retardation, Narrow ...	OMIM:620029
Sabinas Brittle Hair Syndrome	Dry hair, Brittle hair, Nail dystrophy, Nail dysplasia, Sparse hair	OMIM:211390
Tetrasomy 12P	Delayed eruption of teeth, Thin upper lip vermilion, Telecanthus, Short stature, Cachexia, Sparse...	ORPHA:884
Immunodeficiency 24	Decreased CD4:CD8 ratio, Recurrent viral infections, Severe varicella zoster infection, Reduced p...	OMIM:615897
Inflammatory Skin And Bowel Disease, Neonatal, 1	Perianal erythema, Paronychia, Increased circulating IgE level, Perioral erythema, Onychogryposis	OMIM:614328
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia	Recurrent urinary tract infections, Sinusitis, Short stature, Pneumonia, Decreased response to gr...	OMIM:307200
Bathing Suit Ichthyosis	Alopecia, Multiple joint contractures, Parakeratosis, Epidermal acanthosis, Palmoplantar hyperker...	ORPHA:100976
Mucoepithelial Dysplasia, Hereditary	Alopecia, Cataract, Pneumonia, Eosinophilia, Erythematous oral mucosa, Recurrent pneumonia, Chron...	OMIM:158310
Autoimmune Lymphoproliferative Syndrome, Type Iii	Increased proportion autoreactive unresponsive CD21-/low B cells, Autoimmune hemolytic anemia, Al...	OMIM:615559
Tetraamelia With Ectodermal Dysplasia And Lacrimal Duct Abnormalities	Sparse hair, Sacral dimple, Preauricular pit, High, narrow palate	OMIM:273390
Mcdonough Syndrome	Short stature, Cachexia, Open bite, Kyphosis, Synophrys, Cryptorchidism, Dental malocclusion, Abn...	ORPHA:2471
Immunodeficiency 11B With Atopic Dermatitis	Decreased circulating total IgM, Increased circulating IgE level, Eosinophilia	OMIM:617638
Congenital Ichthyosiform Erythroderma	Alopecia, Short stature, Keratitis, Corneal erosion, Hypohidrosis, Palmoplantar keratoderma, Eryt...	ORPHA:79394
Hereditary Mucoepithelial Dysplasia	Alopecia, Tracheoesophageal fistula, Fine hair, Furrowed tongue, Hyperkeratosis, Sparse hair	ORPHA:1839
Ectodermal Dysplasia-Syndactyly Syndrome 2	Sparse hair, Palmoplantar keratoderma, Follicular hyperkeratosis	OMIM:613576
Ichthyosis, Congenital, Autosomal Recessive 11	Curly hair, Brittle hair, Sparse eyelashes, Curly eyelashes, Sparse eyebrow, Hyperkeratosis, Spar...	OMIM:602400
Hennekam-Beemer Syndrome	Macule, Short stature, Camptodactyly of finger, Pneumonia, Subcutaneous nodule, Erythema, Upslant...	ORPHA:2135
Atelosteogenesis, Type I	11 pairs of ribs, Laryngeal stenosis, Rhizomelia, Thoracic platyspondyly, Elbow dislocation, Cryp...	OMIM:108720
Choroidal Atrophy-Alopecia Syndrome	Abnormal fingernail morphology, Supernumerary nipple, Bifid nail, Fine hair, Sparse or absent eye...	ORPHA:1433
Familial Reactive Perforating Collagenosis	Perifolliculitis, Inflammatory abnormality of the skin, Maculopapular exanthema, Abnormal fingern...	ORPHA:79147
Congenital Short Bowel Syndrome	Sparse hair, Intestinal malrotation, Intestinal hypoplasia	ORPHA:2301
Sudden Infant Death With Dysgenesis Of The Testes Syndrome	Laryngospasm, Apnea, Feeding difficulties in infancy, Cryptorchidism, Dysplastic testes, Testicul...	OMIM:608800
Ichthyosis-Alopecia-Eclabion-Ectropion-Intellectual Disability Syndrome	Congenital alopecia totalis, Sparse eyebrow, Dry skin, Absent pubic hair, Cutis laxa, Scaling ski...	ORPHA:2269
Epidermolysis Bullosa, Junctional 5A, Intermediate	Absent pubic hair, Nail dystrophy, Absent axillary hair, Onycholysis of distal fingernails, Alope...	OMIM:619816
Bjornstad Syndrome	Alopecia, Brittle hair, Dry hair, Coarse hair, Hair shafts flattened at irregular intervals and t...	OMIM:262000
Sweet Syndrome	Acute myeloid leukemia, Increased circulating interleukin 6 concentration, Neutrophilia, Skin nod...	ORPHA:3243
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate	Selective tooth agenesis, Conical tooth, Nasogastric tube feeding in infancy, Ankyloblepharon, Co...	OMIM:106260
Hypotrichosis 14	Sparse pubic hair, Short eyelashes, Absent axillary hair, Sparse hair, Sparse body hair	OMIM:618275
Cervical Hypertrichosis With Underlying Kyphoscoliosis	Anterior cervical hypertrichosis, Sacral hypertrichosis, Lumbar hypertrichosis, Thoracic hypertri...	OMIM:117850
Fraser Syndrome 1	Subglottic stenosis, Laryngeal stenosis, Dental crowding, Malformed lacrimal duct, Abnormal thymu...	OMIM:219000
Cardiofaciocutaneous Syndrome 2	Curly hair, Absent eyebrow, Fine hair, High palate, Sparse hair	OMIM:615278
Immunodeficiency 20	Recurrent respiratory infections, Recurrent oral herpes, Severe varicella zoster infection, Wheez...	OMIM:615707
Hypergonadotropic Hypogonadism And Partial Alopecia	Alopecia	OMIM:241090
Muckle-Wells Syndrome	Episcleritis, Skin rash, Camptodactyly of finger, Short stature, Abdominal pain, Splenomegaly, Uv...	ORPHA:575
Agammaglobulinemia 8B, Autosomal Recessive	Pancytopenia, Splenomegaly, Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, B Acu...	OMIM:619824
Epidermolysis Bullosa, Junctional 1A, Intermediate	Plantar hyperkeratosis, Patchy alopecia, Nail dystrophy, Fragile nails	OMIM:226650
Hypotrichosis-Intellectual Disability, Lopes Type	Sparse hair	ORPHA:2266
Holocarboxylase Synthetase Deficiency	Respiratory distress, Nausea and vomiting, Alopecia, Eczema, Anorexia, Tachypnea, Keratoconjuncti...	ORPHA:79242
Trichothiodystrophy	Joint dislocation, Congenital exfoliative erythroderma, Ridged nail, Multiple joint contractures,...	ORPHA:33364
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum	Respiratory distress, Anorexia, Oral-pharyngeal dysphagia, Intestinal perforation, Xerostomia, Se...	ORPHA:95455
Severe Combined Immunodeficiency, X-Linked	Impaired lymphocyte transformation with phytohemagglutinin, Reduced natural killer cell activity,...	OMIM:300400
Leukocyte Adhesion Deficiency Type Ii	Severe periodontitis, Palpebral edema, Short stature, Scarring, Keratitis, Small for gestational ...	ORPHA:99843
Ichthyosis With Alopecia, Eclabium, Ectropion, And Mental Retardation	Alopecia	OMIM:242510
Autosomal Dominant Hypohidrotic Ectodermal Dysplasia	Sparse hair, Abnormal fingernail morphology, Sparse body hair, Thin skin	ORPHA:1810
Immunodeficiency 8 With Lymphoproliferation	Recurrent upper respiratory tract infections, Gastroesophageal reflux, Post-vaccination varicella...	OMIM:615401
Presynaptic Congenital Myasthenic Syndromes	Recurrent respiratory infections, Congenital hip dislocation, Sudden episodic apnea, Kyphoscolios...	ORPHA:98914
Congenital Myasthenic Syndrome	Recurrent respiratory infections, Congenital hip dislocation, Sudden episodic apnea, Kyphoscolios...	ORPHA:590
Ichthyosis, Congenital, Autosomal Recessive 1	Alopecia, Parakeratosis, Palmoplantar hyperkeratosis, Nail dystrophy, Nail dysplasia, Sparse hair	OMIM:242300
Autosomal Dominant Epidermolytic Ichthyosis	Skin ulcer, Weight loss, Hyperkeratosis, Palmoplantar keratoderma, Erythroderma, Conjunctival ham...	ORPHA:312
Epidermolysis Bullosa Dystrophica, Autosomal Recessive	Spontaneous esophageal perforation, Alopecia, Cataract, Esophageal stricture, Flexion contracture...	OMIM:226600
Deafness, Neural, With Atypical Atopic Dermatitis	Increased circulating IgE level	OMIM:221700
Atrophoderma Vermiculata	Hypoplastic pilosebaceous units, Erythema, Periauricular skin pits, Abnormal epidermal morphology...	ORPHA:79100
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency	Increased circulating IgE level, Lack of T cell function, Abnormality of humoral immunity, T lymp...	ORPHA:277
Nicolaides-Baraitser Syndrome	Joint dislocation, High, narrow palate, Hernia, Sparse hair, Alopecia, Curly eyelashes, Highly ar...	ORPHA:3051
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive	Keratoconus, Alopecia, Short stature, Palmoplantar keratoderma, Conjunctivitis, Erythroderma, Spa...	OMIM:242150
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome	Sparse hair, Alopecia, Long eyelashes	ORPHA:3363
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes	Alopecia, Cataract, Cachexia, Malabsorption, Anorexia, Abdominal pain, Diarrhea, Xerostomia, Hama...	OMIM:175500
Systemic Lupus Erythematosus 17	Alopecia, Autoimmune thrombocytopenia, Leukopenia, Decreased circulating complement C3 concentrat...	OMIM:301080
Syndromic X-Linked Intellectual Disability 7	Sparse body hair	ORPHA:85274
Immunodeficiency 89 And Autoimmunity	Reduced circulating interleukin 17A concentration, Reduced circulating interleukin 23 concentrati...	OMIM:619632
Hypocomplementemic Urticarial Vasculitis	Episcleritis, Joint dislocation, Nausea and vomiting, Skin rash, Abdominal pain, Pruritus, Spleno...	ORPHA:36412
Microcephaly 13, Primary, Autosomal Recessive	Subglottic stenosis, Intrauterine growth retardation, Small for gestational age, Short stature	OMIM:616051
Ectodermal Dysplasia-Blindness Syndrome	Cataract, Abnormal fingernail morphology, Corneal dystrophy, Sclerocornea, Short stature, Skin ul...	ORPHA:1806
Laryngotracheoesophageal Cleft Type 4	Cachexia, Abnormality of the spleen, Abnormal rib morphology, Tracheoesophageal fistula, Abnormal...	ORPHA:93941
Mal De Meleda	Inflammatory abnormality of the skin, Superficial dermal perivascular inflammatory infiltrate, Ep...	ORPHA:87503
Fraser Syndrome	Subglottic stenosis, Laryngeal stenosis, Dental crowding, Orofacial cleft, Malformed lacrimal duc...	ORPHA:2052
Agammaglobulinemia, X-Linked	Sepsis, T lymphocytopenia, Conjunctivitis, Neutropenia, Meningitis, Infectious encephalitis, Ente...	OMIM:300755
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome	Brittle hair, Sparse eyelashes, Abnormality of hair texture, Sparse eyebrow, Progressive hypotric...	OMIM:225060
Isolated Pierre Robin Syndrome	Neonatal respiratory distress, Upper airway obstruction, Cleft palate, Glossoptosis, Abnormality ...	ORPHA:718
Palmoplantar Keratoderma, Epidermolytic, 1	Increased circulating IgE level	OMIM:144200
Hemophagocytic Lymphohistiocytosis, Familial, 4	Skin rash, Splenomegaly, Anemia, Conjunctivitis, Hemophagocytosis, Neutropenia, Thrombocytopenia	OMIM:603552
Laryngotracheal Angioma	Respiratory distress, Intercostal retractions, Apnea, Wheezing, Feeding difficulties, Stridor, Vo...	ORPHA:137935
Mitochondrial Neurogastrointestinal Encephalomyopathy	Hypergonadotropic hypogonadism, Hypogonadotropic hypogonadism, Cachexia, Poor appetite, Atrophic ...	ORPHA:298
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections	Erythema, Increased circulating IgE level, Eosinophilia, Cutaneous abscess	OMIM:147060
Juvenile Hyaline Fibromatosis	Aplasia/Hypoplasia of the skin, Progressive flexion contractures, Abnormal hair morphology, Subcu...	ORPHA:2028
Multicentric Reticulohistiocytosis	Arthritis, Cachexia, Histiocytosis	ORPHA:139436
Hawkinsinuria	Sparse hair, Fine hair	ORPHA:2118
Ige Responsiveness, Atopic	Increased circulating IgE level	OMIM:147050
Muckle-Wells Syndrome	Maculopapular exanthema, Short stature, Leukocytosis, Polyarticular arthritis, Conjunctivitis, Re...	OMIM:191900
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy	Subglottic stenosis, Short stature, Intestinal malrotation, Asplenia, High palate, Laryngomalacia...	OMIM:619657
Combined Immunodeficiency Due To Dock8 Deficiency	T lymphocytopenia, Increased circulating IgE level, B lymphocytopenia, Skin ulcer	ORPHA:217390
Immunodeficiency 35	Increased circulating IgE level	OMIM:611521
Zellweger-Like Syndrome Without Peroxisomal Anomalies	Alopecia, Epicanthus, Brittle hair, Short stature, Upslanted palpebral fissure, High palate, Intr...	ORPHA:50812
Zika Virus Disease	Maculopapular exanthema, Skin rash, Ankle swelling, Wrist swelling, Thrombocytopenia, Pruritus, M...	ORPHA:448237
Pierre Robin Syndrome	Neonatal respiratory distress, Feeding difficulties in infancy, Pierre-Robin sequence, Upper airw...	OMIM:261800
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant	Recurrent bacterial skin infections, Sparse eyelashes, Trichiasis, Sparse eyebrow, Keratitis, Elb...	OMIM:148210
Neurooculorenal Syndrome	Subglottic stenosis, Iris atrophy, Decreased circulating cortisol level, Ectopic posterior pituit...	OMIM:620305
Immunodeficiency, Common Variable, 2	Splenomegaly, Diarrhea, Recurrent pneumonia, Bronchiectasis, Recurrent bacterial infections, Conj...	OMIM:240500
Ectodermal Dysplasia 11B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive	Absent eyebrow, Sparse scalp hair, Absent nipple, Sparse eyelashes, Absent eyelashes, Xerostomia,...	OMIM:614941
Campomelic Dysplasia	Respiratory distress, Irregular dentition, Thoracic scoliosis, Apnea, Cervical kyphosis, Patellar...	OMIM:114290
Acrogeria	Aplasia/Hypoplasia of the skin, Lipoatrophy, Short stature, Skin ulcer, Fine hair, Excessive wrin...	ORPHA:2500
Progeria-Short Stature-Pigmented Nevi Syndrome	Thoracic scoliosis, Multiple joint contractures, Lack of facial subcutaneous fat, Selective tooth...	ORPHA:2959
Myasthenic Syndrome, Congenital, 20, Presynaptic	Hypoventilation, Apnea, Kyphosis, Feeding difficulties, Stridor, Scoliosis, Dysphagia, Arthrogryp...	OMIM:617143
Hypotrichosis-Lymphedema-Telangiectasia Syndrome	Sparse scalp hair, Alopecia, Absent eyebrow, Abnormal sweat gland morphology, Absent eyelashes, T...	OMIM:607823
Laryngotracheoesophageal Cleft	Recurrent respiratory infections, Neonatal respiratory distress, Dyspnea, Stridor, Laryngomalacia...	ORPHA:2004
Ichthyosis, Congenital, Autosomal Recessive 2	Anhidrosis, Alopecia, Epidermal acanthosis, Thin nail, Abnormal hair morphology, Erythema, Hypohi...	OMIM:242100
Neutropenia, Severe Congenital, 1, Autosomal Dominant	Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Increased circul...	OMIM:202700
Congenital Laryngeal Web	Respiratory distress, Stridor, Short stature, Laryngomalacia	ORPHA:2374
Larynx Atresia	Recurrent respiratory infections, Short stature, Laryngomalacia, Respiratory insufficiency	ORPHA:1202
19Q13.11 Microdeletion Syndrome	Recurrent respiratory infections, Cataract, Congenital hip dislocation, Supernumerary nipple, Cac...	ORPHA:217346
Idiopathic Trachyonychia	Ridged nail, Thin nail, Concave nail, Nail pits, Patchy alopecia, Nail dystrophy, Fingernail dysp...	ORPHA:79153
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections	Lymphopenia, Increased circulating IgE level, Decreased circulating total IgM, Cutaneous abscess,...	OMIM:619752
Proteasome-Associated Autoinflammatory Syndrome 3	Myositis, Sinusitis, Skin rash, Lipodystrophy, Failure to thrive, Thrombocytopenia, Splenomegaly,...	OMIM:617591
Dyskeratosis Congenita, Autosomal Recessive 6	Sparse hair, Alopecia, Nail dystrophy, Oral leukoplakia	OMIM:616353
Alopecia-Intellectual Disability Syndrome	Sparse scalp hair, Alopecia, Sparse body hair, Aplasia/Hypoplasia of the eyebrow	ORPHA:2850
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome	Alopecia, Hypopigmentation of hair	ORPHA:1067
Idiopathic Achalasia	Wheezing, Malnutrition, Dysphagia, Weight loss, Gastroesophageal reflux, Cough, Recurrent aspirat...	ORPHA:930
Fraser-Like Syndrome	Subglottic stenosis, Contracture of the proximal interphalangeal joint of the 2nd finger	OMIM:229230
Microsporidiosis	Myositis, Sinusitis, Cholangitis, Anorexia, Lymphadenitis, Abnormality of the spleen, Abnormality...	ORPHA:2552
Congenital Tracheomalacia	Apnea, Decreased peak expiratory flow, Gastroesophageal reflux, Cough, Emphysema, Neonatal respir...	ORPHA:95430
Palmoplantar Keratoderma, Nagashima Type	Orthokeratotic hyperkeratosis, Epidermal acanthosis, Palmoplantar hyperhidrosis, Palmoplantar hyp...	OMIM:615598
Ichthyosis, Annular Epidermolytic, 1	Abnormal hair morphology, Hyperparakeratosis, Erythema, Palmoplantar hyperkeratosis, Erythematous...	OMIM:607602
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant	Pneumonia, Recurrent upper respiratory tract infections, Atopic dermatitis, T lymphocytopenia, Na...	OMIM:618806
Spondyloepiphyseal Dysplasia, Nishimura Type	Recurrent respiratory infections, Osteoarthritis, Disproportionate short-limb short stature, Shor...	OMIM:618618
Idiopathic Bronchiectasis	Crackles, Productive cough, Cachexia, Dyspnea, Wheezing, Bronchiectasis, Abnormal respiratory sys...	ORPHA:60033
Pulmonary Blastoma	Recurrent pneumonia, Weight loss	ORPHA:64741
Immunodeficiency 102	Severe varicella zoster infection, Sepsis, Leukopenia, Hypothyroidism, Autoimmune thrombocytopeni...	OMIM:301082
Immunodeficiency 86	Impaired oxidative burst, Decreased circulating IgG level, Increased circulating IgM level	OMIM:619549
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2	Hip contracture, Epicanthus, Thin upper lip vermilion, Failure to thrive in infancy, Cachexia, Fe...	OMIM:616801
Autoinflammation With Arthritis And Dyskeratosis	Failure to thrive, Epidermal acanthosis, Thyroiditis, Uveitis, Palmoplantar hyperkeratosis, Growt...	OMIM:617388
Ifap Syndrome 2	Cataract, Angular cheilitis, Keratitis, Posterior blepharitis, Keratoconjunctivitis sicca, Nail d...	OMIM:619016
Majeed Syndrome	Inflammatory abnormality of the skin, Osteomyelitis, Acne, Cachexia, Congenital hypoplastic anemi...	ORPHA:77297
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)	Intestinal pseudo-obstruction, Cachexia, Malabsorption, Abdominal pain, Abdominal distention, Gas...	OMIM:613662
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1	Small for gestational age, Camptodactyly of finger, Tachypnea, Respiratory failure, Constipation,...	OMIM:604320
Lipodystrophy Due To Peptidic Growth Factors Deficiency	Reduced subcutaneous adipose tissue, Lipoatrophy, Lipodystrophy, Cachexia, Abnormal hair morpholo...	ORPHA:1979
Stuve-Wiedemann Syndrome 2	Respiratory distress, Eczema, Dysphagia, Stillbirth, Scoliosis, Camptodactyly, Neonatal death, Pu...	OMIM:619751
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome	Sparse scalp hair, Alopecia, Absent eyebrow, Absent eyelashes, Dermal atrophy, Sparse body hair	ORPHA:69735
Odontoonychodermal Dysplasia	Ridged nail, Sparse scalp hair, Plantar hyperkeratosis, Dry hair, Thin nail, Short nail, Sparse e...	OMIM:257980
Short-Rib Thoracic Dysplasia 15 With Polydactyly	Respiratory distress, Epicanthus, Median cleft lip, Short stature, Accessory oral frenulum, Splen...	OMIM:617088
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Severe B lymphocytopenia, Cough, Microdontia, Sparse hair, Intrauterine growth retardation, Hypot...	OMIM:620005
Oculocerebrocutaneous Syndrome	Cleft palate, Alopecia, Focal dermal aplasia/hypoplasia	OMIM:164180
Hydrocephalus-Obesity-Hypogonadism Syndrome	High, narrow palate, Sparse facial hair, Absent facial hair, Low posterior hairline	ORPHA:2183
Congenital Myopathy 10A, Severe Variant	Respiratory distress, Camptodactyly of finger, Cleft palate, Respiratory insufficiency, Dysphagia...	OMIM:614399
Dowling-Degos Disease 4	Epidermal acanthosis, Papule	OMIM:615696
Van Den Ende-Gupta Syndrome	Abnormal eyebrow morphology, Dental crowding, Sclerocornea, Craniosynostosis, High, narrow palate...	OMIM:600920
Glycosylphosphatidylinositol Biosynthesis Defect 25	Sparse hair, Coarse hair	OMIM:619985
Hypotrichosis With Juvenile Macular Degeneration	Sparse scalp hair, Brittle hair, Fine hair, Melanocytic nevus, Hyperkeratosis, Pili torti	ORPHA:1573
Schwartz-Jampel Syndrome	Apnea, Feeding difficulties in infancy, Low anterior hairline, Microcornea, High palate, Decrease...	ORPHA:800
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form	Sepsis, Smooth tongue, Alopecia, Scarring, Oral mucosal blisters, Anemia, Corneal opacity, Growth...	ORPHA:79396
Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis	Alopecia, Cataract, Sparse eyelashes, Sparse eyebrow, Hypohidrosis, Growth delay, Nail dysplasia,...	OMIM:615704
Chronic Graft Versus Host Disease	Fasciitis, Alopecia, Urinary bladder inflammation, Esophageal stricture, Flexion contracture, Ery...	ORPHA:99921
Gaucher Disease, Type Ii	Apnea, Splenomegaly, Dysphagia, Feeding difficulties, Anemia, Stridor, Gastroesophageal reflux, P...	OMIM:230900
Adult Syndrome	Sparse scalp hair, Alopecia, Absent nipple, Breast hypoplasia, Nail pits, Fine hair, Skin ulcer, ...	ORPHA:978
Macroglobulinemia, Waldenstrom, Susceptibility To, 1	Impaired lymphocyte transformation with phytohemagglutinin, Monoclonal immunoglobulin M proteinem...	OMIM:153600
Neutropenia, Chronic Familial	Increased circulating antibody level, Neutropenia	OMIM:162700
Pierre Robin Sequence With Facial And Digital Anomalies	Hyperconvex nail, Pierre-Robin sequence, Cleft palate, Glossoptosis, Easily subluxated first meta...	OMIM:311895
Proteasome-Associated Autoinflammatory Syndrome 1	Microcytic anemia, Adipose tissue loss, Elevated circulating thyroid-stimulating hormone concentr...	OMIM:256040
Blepharocheilodontic Syndrome 1	Nail dysplasia, Small nail, Sparse hair, Aplasia cutis congenita over the scalp vertex, High ante...	OMIM:119580
Alopecia-Contractures-Dwarfism Mental Retardation Syndrome	Generalized hypoplasia of dental enamel, Alopecia, Telecanthus, Severe short stature, Flexion con...	OMIM:203550
Adult Syndrome	Sparse scalp hair, Absent nipple, Fair hair, Eczema, Sparse axillary hair, Nasolacrimal duct obst...	OMIM:103285
Non-Epidermolytic Palmoplantar Keratoderma	Papule, Diffuse palmoplantar hyperkeratosis, Erythema, Skin ulcer	ORPHA:2337
Flynn-Aird Syndrome	Alopecia, Cataract, Cachexia, Abnormality of the thyroid gland, Kyphosis, Carious teeth, Primary ...	ORPHA:2047
Catel-Manzke Syndrome	Short stature, Camptodactyly of finger, Highly arched eyebrow, Cleft palate, Glossoptosis, Scolio...	ORPHA:1388
Rhizomelic Chondrodysplasia Punctata, Type 1	Alopecia, Severe short stature, Rhizomelia, Kyphoscoliosis, Flexion contracture, Cleft palate, De...	OMIM:215100
Agammaglobulinemia 1, Autosomal Recessive	Recurrent respiratory infections, Recurrent pneumonia, Neutropenia, Bronchiectasis, Chronic diarr...	OMIM:601495
Incontinentia Pigmenti	Ridged nail, Conical tooth, Hemivertebrae, Uveitis, Oligodontia, Coarse hair, Sparse hair, Atroph...	OMIM:308300
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques	Alopecia, Abnormal fingernail morphology, Erythema, Skin ulcer, Palmoplantar keratoderma, Skin fi...	ORPHA:659
Perching Syndrome	Respiratory distress, Dysphagia, Feeding difficulties, High palate, Scoliosis, Camptodactyly, Joi...	OMIM:617055
Autoimmune Polyendocrinopathy Type 2	Celiac disease, Alopecia, Hypopigmented skin patches	ORPHA:3143
Wiskott-Aldrich Syndrome	Sinusitis, Abnormal eosinophil morphology, Microcytic anemia, Sepsis, Inflammation of the large i...	ORPHA:906
Bone Marrow Failure Syndrome 3	Congenital hip dislocation, Aplastic anemia, Oral ulcer, Downturned corners of mouth, Hernia, Neu...	OMIM:617052
Chromomycosis	Erythematous macule, Keratitis, Subcutaneous nodule, Verrucous papule, Hypopigmented skin patches...	ORPHA:182
Ectodermal Dysplasia-Sensorineural Deafness Syndrome	Sparse hair, Hyperkeratosis, Coarse hair, Brittle hair	ORPHA:1883
Isolated Agammaglobulinemia	Recurrent cutaneous abscess formation, Sinusitis, Skin rash, Pneumonia, Short stature, Malabsorpt...	ORPHA:229717
Leukocyte Adhesion Deficiency	Sinusitis, Severe periodontitis, Recurrent staphylococcal infections, BCGosis, Sepsis, Gingivitis...	ORPHA:2968
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia	Atrophic gastritis, Chronic active hepatitis, Asplenia, Male hypogonadism, Hypothyroidism, Alopec...	OMIM:240300
Congenital Muscular Dystrophy Due To Lmna Mutation	Cachexia, Hyperlordosis, Flexion contracture, Respiratory insufficiency, Feeding difficulties	ORPHA:157973
Cohen Syndrome	Thoracic scoliosis, Lumbar hyperlordosis, Small for gestational age, Decreased response to growth...	OMIM:216550
Cartilage-Hair Hypoplasia	Fair hair, Sparse facial hair, Susceptibility to chickenpox, Neutropenia, Sparse hair, Neonatal s...	OMIM:250250
Ulnar-Mammary Syndrome	Subglottic stenosis, Ectopic posterior pituitary, Anal stenosis, Inguinal hernia, Anterior pituit...	OMIM:181450
Lipoid Proteinosis	Recurrent respiratory infections, Nasal polyposis, Acne, Scarring, Abnormal oral mucosa morpholog...	ORPHA:530
Mixed Connective Tissue Disease	Gastrointestinal hemorrhage, Hemolytic anemia, Myositis, Pericarditis, Skin rash, Gastritis, Alop...	ORPHA:809
Familial Cold Autoinflammatory Syndrome 1	Skin rash, Leukocytosis, Aphthous ulcer, Uveitis, Arthritis, Conjunctivitis	OMIM:120100
Neuropathy, Congenital Hypomyelinating, 3	Epicanthus, Limb joint contracture, Cachexia, Flexion contracture, Gingival overgrowth, Narrow pa...	OMIM:618186
Necrobiosis Lipoidica	Inflammatory abnormality of the skin, Indurated nodule, Skin nodule, Erythema, Skin ulcer, Atroph...	ORPHA:542592
Reactive Arthritis	Pericarditis, Osteomyelitis, Recurrent urinary tract infections, Abdominal pain, Pustule, Cartila...	ORPHA:29207
Rhizomelic Chondrodysplasia Punctata	Alopecia, Dry skin, Sparse body hair	ORPHA:177
Zinc Deficiency, Transient Neonatal	Alopecia	OMIM:608118
Hereditary Angioedema Type 1	Respiratory distress, Tongue edema, Intestinal edema, Pharyngeal edema, Abdominal pain, Abnormal ...	ORPHA:100050
Oligodontia-Colorectal Cancer Syndrome	Sparse scalp hair, Absent eyebrow, Sparse axillary hair, Adenomatous colonic polyposis, Colon can...	OMIM:608615
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2	Epicanthus, Pneumocystis jirovecii pneumonia, Pneumonia, Diarrhea, Recurrent upper respiratory tr...	OMIM:614069
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections	Increased circulating IgE level, Eosinophilia	OMIM:618523
Dracunculiasis	Recurrent cutaneous abscess formation, Skin rash, Flexion contracture, Subcutaneous nodule, Skin ...	ORPHA:231
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)	Respiratory distress, Cachexia, Diarrhea, Weight loss, Feeding difficulties, Vomiting, Failure to...	OMIM:612075
Lethal Osteosclerotic Bone Dysplasia	Respiratory distress, Dyspnea, Gingival fibromatosis, Gingival overgrowth, Respiratory failure, I...	ORPHA:1832
Mandibulofacial Dysostosis With Macroblepharon And Macrostomia	Smooth philtrum, Corneal opacity, Keratitis, Synophrys, Wide nasal bridge, Wide mouth, Oligodonti...	OMIM:602562
Sézary Syndrome	Alopecia, Abnormal immunoglobulin level, Splenomegaly, Dry skin, Nail dystrophy, Abnormal lymphoc...	ORPHA:3162
Basan Syndrome	Epidermal acanthosis, Hypermelanotic macule, Palmoplantar keratoderma, Nail dystrophy, Flexion co...	OMIM:129200
Autosomal Dominant Severe Congenital Neutropenia	Aplastic anemia, Recurrent viral infections, Oral ulcer, Gingivitis, Periodontitis, Neutropenia, ...	ORPHA:486
Juvenile Temporal Arteritis	Eosinophilia, Leukocytosis, Conjunctivitis, Allergic rhinitis	ORPHA:26137
Bleeding Disorder, Platelet-Type, 21	Alopecia, Increased mean platelet volume, Impaired ADP-induced platelet aggregation, Impaired pla...	OMIM:617443
Progeroid Syndrome, Petty Type	Brittle hair, Redundant skin, Abnormal hair morphology, Cutis laxa, Abnormality of the nail, Long...	ORPHA:2963
Wolman Disease	Nausea and vomiting, Adrenal calcification, Bone-marrow foam cells, Cachexia, Splenomegaly, Abdom...	ORPHA:75233
Ichthyosis, Hystrix-Like, With Deafness	Sparse scalp hair, Sparse eyelashes, Absent eyelashes, Scarring alopecia of scalp, Sparse eyebrow...	OMIM:602540
Chromosome Xq13 Duplication Syndrome	Medial flaring of the eyebrow, Ptosis, Epicanthus, Thin upper lip vermilion, Subglottic laryngiti...	OMIM:301069
Activated Pi3K-Delta Syndrome	Pneumonia, Splenomegaly, Severe varicella zoster infection, Recurrent tonsillitis, Bronchiectasis...	ORPHA:397596
Mitochondrial Complex Iv Deficiency, Nuclear Type 2	Respiratory distress, Hypoplastic toenails, Feeding difficulties, High palate, Inspiratory strido...	OMIM:604377
Pachyonychia Congenita 3	Plantar hyperkeratosis, Onychogryposis of toenails, Furrowed tongue, Palmoplantar keratoderma, Na...	OMIM:615726
Cryptogenic Organizing Pneumonia	Respiratory distress, Bronchial breath sound, Neutrophilia, Crackles, Anorexia, Nonproductive cou...	ORPHA:1302
Paternal 20Q13.2Q13.3 Microdeletion Syndrome	Respiratory distress, Lipoatrophy, Wide nasal bridge, Feeding difficulties, Thin vermilion border...	ORPHA:261304
Immunodeficiency 76	Splenomegaly, Recurrent pneumonia, Chronic diarrhea, Growth delay, T lymphocytopenia, Colitis, B ...	OMIM:619164
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections	Eosinophilia, Increased circulating IgE level, Increased circulating IgG level, Decreased circula...	OMIM:243700
Generalized Eruptive Keratoacanthoma	Abnormal cornea morphology, Keratoconjunctivitis sicca, Conjunctivitis, Papule, Ectropion	ORPHA:411777
Congenital Pulmonary Valvar Stenosis	Laryngeal stenosis	ORPHA:3189
Brooke-Spiegler Syndrome	Skin appendage neoplasm, Salivary gland neoplasm, Skin-colored papule, Skin nodule, Skin ulcer, A...	ORPHA:79493
X-Linked Intellectual Disability, Cabezas Type	Epicanthus, Inguinal hernia, Short stature, Camptodactyly of finger, Abnormal hair pattern, Cache...	ORPHA:85293
Heyn-Sproul-Jackson Syndrome	Sparse hair	OMIM:618724
Mucopolysaccharidosis-Plus Syndrome	Respiratory distress, Synophrys, Flexion contracture, Low anterior hairline, Sepsis, Leukopenia, ...	OMIM:617303
Imperforate Oropharynx-Costovertebral Anomalies Syndrome	Respiratory distress, Recurrent respiratory infections, Epicanthus, Abnormality of the philtrum, ...	ORPHA:2759
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome	Hip contracture, Thin upper lip vermilion, Tented upper lip vermilion, Short stature, Cachexia, N...	ORPHA:371364
Chung-Jansen Syndrome	Epicanthus, Cryptorchidism, Synophrys, Obesity, Feeding difficulties, Upslanted palpebral fissure...	OMIM:617991
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia	Ridged nail, Absent eyebrow, Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Facial erythema...	ORPHA:1010
Omenn Syndrome	Alopecia, Severe B lymphocytopenia, Eosinophilia, Pneumonia, Recurrent viral infections, Splenome...	OMIM:603554
Familial Cold Urticaria	Arthritis, Erythema, Conjunctivitis, Hyperhidrosis	ORPHA:47045
Chilblain Lupus 1	Skin ulcer, Chilblains, Abnormality of the nail	OMIM:610448
Laryngomalacia	Respiratory distress, Laryngomalacia, Congenital laryngeal stridor	OMIM:150280
Epidermolytic Palmoplantar Keratoderma	Epidermal acanthosis, Abnormal fingernail morphology, Interphalangeal joint contracture of finger...	ORPHA:2199
Omenn Syndrome	Alopecia, Failure to thrive, Pneumonia, Eosinophilia, Pruritus, Splenomegaly, Leukocytosis, Chron...	ORPHA:39041
Tylosis With Esophageal Cancer	Parakeratosis, Diffuse palmoplantar hyperkeratosis, Esophageal carcinoma, Follicular hyperkeratos...	OMIM:148500
Thyroid Lymphoma	Respiratory distress, Hyperthyroidism, Dyspnea, Upper airway obstruction, Stridor, Dysphagia, Hyp...	ORPHA:97285
Selective Igm Deficiency	Fasciitis, Recurrent herpes, Recurrent staphylococcal infections, Lymphadenitis, Severe varicella...	ORPHA:331235
Staphylococcal Necrotizing Pneumonia	Respiratory distress, Pharyngitis, Neutrophilia, Diabetes mellitus, Pneumonia, Cough, Nonproducti...	ORPHA:36238
Cardiocranial Syndrome, Pfeiffer Type	Contracture of the proximal interphalangeal joint of the 2nd finger, Short stature, Episodic tach...	ORPHA:2872
Pontocerebellar Hypoplasia Type 1	Congenital laryngeal stridor, Feeding difficulties, Respiratory failure, Tongue fasciculations, A...	ORPHA:2254
Immunodeficiency 67	Transient neutropenia, Increased circulating IgE level, Liver abscess	OMIM:607676
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Sinusitis, Severe B lymphocytopenia, Recurrent viral infections, Autoimmune thrombocytopenia, Chr...	OMIM:102700
Dyskeratosis Congenita, Autosomal Dominant 2	Pancytopenia, Aplastic anemia, Short stature, Abnormality of the dentition, Esophageal stricture,...	OMIM:613989
Congenital Factor Xii Deficiency	Retinal vein occlusion, Penetrating foot ulcers, Retinal arteriolar occlusion	ORPHA:330
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome	Synophrys, Palmoplantar hyperkeratosis, Sparse hair, Dystrophic fingernails, Anodontia, Alopecia,...	ORPHA:3253
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Abnormal eyelid morphology, Uveitis, Hyperconvex fingernails, Conjunctivitis, Sparse hair, Abnorm...	ORPHA:2273
Shigellosis	Anorexia, Intestinal perforation, Sepsis, Uveitis, Bloody diarrhea, Paralytic ileus, Conjunctivit...	ORPHA:810
Lymphoma, Hodgkin, Classic	Impaired lymphocyte transformation with phytohemagglutinin, Polyclonal elevation of IgM	OMIM:236000
Woolly Hair, Autosomal Dominant	Abnormal eyebrow morphology, Dry hair, Slow-growing hair, Abnormal eyelash morphology, Palmoplant...	OMIM:194300
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Respiratory distress, Parakeratosis, Severe B lymphocytopenia, Coarse hair, Cryptorchidism, Wide ...	ORPHA:83617
Ectodermal Dysplasia And Immunodeficiency 1	Dysgammaglobulinemia, Reduced natural killer cell activity, Increased circulating IgA level, Incr...	OMIM:300291
Pediatric Systemic Lupus Erythematosus	Lymphopenia, Myositis, Alopecia, Skin rash, Abdominal pain, Discoid lupus rash, Dyspnea, Diarrhea...	ORPHA:93552
Ciliary Dyskinesia, Primary, 14	Male infertility, Recurrent respiratory infections, Neonatal respiratory distress, Absent inner d...	OMIM:613807
Bardet-Biedl Syndrome 16	Respiratory distress, Recurrent respiratory infections, Short stature, Obesity, Bronchiolitis, Hy...	OMIM:615993
Lamellar Ichthyosis	Lack of skin elasticity, Hyperkeratosis, Sparse hair, Dry skin, Abnormality of the nail, Aplasia/...	ORPHA:313
Hypomelanosis Of Ito	Macular hypopigmented whorls, streaks, and patches, Alopecia	OMIM:300337
Deafness, Autosomal Dominant 34, With Or Without Inflammation	Arthritis, Conjunctivitis	OMIM:617772
Lelis Syndrome	Yellow nails, Absent lower eyelashes, Palmoplantar hyperkeratosis, Furrowed tongue, Nail dystroph...	ORPHA:140936
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome	Decreased circulating cortisol level, Severe B lymphocytopenia, Decreased response to growth horm...	ORPHA:293978
Xq27.3Q28 Duplication Syndrome	Sparse body hair	ORPHA:261483
Cyclic Neutropenia	Premature loss of permanent teeth, Sinusitis, Oral ulcer, Gingivitis, Sepsis, Periodontitis, Otit...	ORPHA:2686
Ptosis-Vocal Cord Paralysis Syndrome	Severe short stature, Laryngomalacia, Ptosis	ORPHA:2997
Immunodeficiency 15A	Recurrent respiratory infections, Decreased proportion of CD8-positive T cells, Decreased proport...	OMIM:618204
Hoyeraal-Hreidarsson Syndrome	Sparse scalp hair, Short stature, Premature graying of hair, Excessive wrinkled skin, Nail dystro...	ORPHA:3322
Pgm3-Cdg	Hemolytic anemia, Abnormal proportion of CD8-positive T cells, Eosinophilia, Increased circulatin...	ORPHA:443811
Immunodeficiency By Defective Expression Of Mhc Class Ii	Recurrent herpes, Sinusitis, Abnormal CD4:CD8 ratio, Recurrent viral infections, Acute otitis med...	ORPHA:572
Bloom Syndrome	Recurrent herpes, Poor appetite, Adipose tissue loss, Paronychia, Severe varicella zoster infecti...	ORPHA:125
Hereditary Bullous Dystrophy, Macular Type	Alopecia, Congenital abnormal hair pattern, Spotty hypopigmentation, Nail dystrophy, Atrichia	ORPHA:1867
Immunodeficiency 52	Decreased proportion of CD4-positive T cells, Failure to thrive, Persistent CMV viremia, Autoimmu...	OMIM:617514
Reticular Dysgenesis	Skin rash, Malabsorption, Skin ulcer, Weight loss, Chronic otitis media, Failure to thrive	ORPHA:33355
Whipple Disease	Gastrointestinal hemorrhage, Myositis, Pericarditis, Cachexia, Malabsorption, Anorexia, Myocardit...	ORPHA:3452
Rapp-Hodgkin Syndrome	Sparse hair, Bifid uvula, Short stature, Sparse eyebrow, Small nail, Ptosis, Absent lacrimal punc...	OMIM:129400
Proteus Syndrome	Epidermal nevus, Epidermal acanthosis, Multiple lipomas, Hyperkeratosis, Lipoma, Nevus, Limbal de...	OMIM:176920
Celiac Disease, Susceptibility To, 1	Iron deficiency anemia, Vomiting, Alopecia, Short stature, Abdominal pain, Delayed puberty, Macro...	OMIM:212750
Dyskeratosis Congenita, X-Linked	Ridged nail, Pterygium of nails, Premature graying of hair, Leukopenia, Conjunctivitis, Premature...	OMIM:305000
Acrofacial Dysostosis, Palagonia Type	Aplasia/Hypoplasia of the skin, Sparse eyelashes, High, narrow palate, Low anterior hairline, Der...	ORPHA:1787
Ectodermal Dysplasia 11A, Hypohidrotic/Hair/Tooth Type, Autosomal Dominant	Brittle hair, Absent nipple, Sparse hair, Dry skin, Absent hair	OMIM:614940
Agammaglobulinemia 3, Autosomal Recessive	Diarrhea, Abnormal T cell morphology, Recurrent bacterial infections, Absent circulating B cells,...	OMIM:613501
Keratosis Palmoplantaris Striata Ii	Palmoplantar keratoderma, Epidermal acanthosis	OMIM:612908
Trichothiodystrophy 4, Nonphotosensitive	Epicanthus, Brittle hair, Sparse eyelashes, Concave nail, Abnormality of hair texture, Microcorne...	OMIM:234050
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome	Synophrys, Low anterior hairline, Downturned corners of mouth, Oligodontia, Short philtrum, Spars...	ORPHA:391408
Johnson Neuroectodermal Syndrome	Absent eyebrow, Alopecia, Severe short stature, Absent eyelashes, Cleft palate, Multiple cafe-au-...	ORPHA:2316
Auriculocondylar Syndrome 2A	Respiratory distress, Apnea, Dental crowding, Narrow mouth, Mandibular condyle aplasia, Dental ma...	OMIM:614669
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome	Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Scarring alopecia of scalp, Sparse body hair	ORPHA:59303
Hemifacial Atrophy, Progressive	Tongue atrophy, Patchy alopecia, Poliosis	OMIM:141300
Neuropathy, Hereditary Sensory And Autonomic, Type Vi	Neonatal respiratory distress, Apnea, Flexion contracture, Corneal scarring, Feeding difficulties...	OMIM:614653
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis	Respiratory distress, Epicanthus, Macrocytic anemia, Short stature, Congenital diaphragmatic hern...	OMIM:606164
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Limited elbow movement, Long nose, T lymphocytopenia, Lumbar hyperlordosis, Gingival overgrowth, ...	ORPHA:508533
Immunodeficiency 57 With Autoinflammation	Recurrent respiratory infections, Failure to thrive, Skin rash, Gastritis, Perianal abscess, Diar...	OMIM:618108
Fg Syndrome 3	Sparse hair, Pyloric stenosis, Frontal upsweep of hair, Fine hair	OMIM:300406
Incontinentia Pigmenti	Uveitis, Orofacial cleft, Abnormal toenail morphology, Spina bifida occulta, Infectious encephali...	ORPHA:464
Myotonia, Potassium-Aggravated	Stridor, Laryngospasm, Apneic episodes in infancy	OMIM:608390
Onychotrichodysplasia And Neutropenia	Curly hair, Chronic irritative conjunctivitis, Chronic neutropenia, Curly eyelashes, Concave nail...	OMIM:258360
Biotinidase Deficiency	Alopecia, Skin rash, Recurrent skin infections, Apnea, Seborrheic dermatitis, Feeding difficultie...	OMIM:253260
Immunodeficiency 14B, Autosomal Recessive	Neutrophilia, Candida esophagitis, Leukocytosis, Recurrent pneumonia, Chronic diarrhea, Monocytos...	OMIM:619281
Igg4-Related Aortitis	Increased circulating IgG4 level, Increased circulating IgE level, Hypereosinophilia, Increased c...	ORPHA:449400
Schimke Immunoosseous Dysplasia	Bilateral cryptorchidism, Elevated circulating thyroid-stimulating hormone concentration, Abnorma...	OMIM:242900
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities	Respiratory distress, Recurrent respiratory infections, Epicanthus, Telecanthus, Tented upper lip...	OMIM:619383
Trichothiodystrophy 8, Nonphotosensitive	Sparse eyebrow, Cutis laxa, Sparse hair, Woolly hair, Trichorrhexis nodosa	OMIM:619691
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis	Alopecia, Parakeratosis, Sparse eyelashes, Thick hair, Sparse eyebrow, Sparse hair, Orthokeratosi...	OMIM:607626
X-Linked Hypohidrotic Ectodermal Dysplasia	Sparse hair, Sparse body hair, Aplasia/Hypoplasia of the eyebrow	ORPHA:181
Progressive Nodular Histiocytosis	Cachexia, Subcutaneous nodule, Papule	ORPHA:158022
Hereditary Motor And Sensory Neuropathy, Type Iic	Short stature, Stridor, Respiratory failure, Scoliosis, Intercostal muscle weakness	OMIM:606071
Tenorio Syndrome	Telecanthus, Apnea, Delayed cranial suture closure, Recurrent pneumonia, Wide mouth, Macroglossia...	OMIM:616260
Immunodeficiency 60 And Autoimmunity	Pancytopenia, Splenomegaly, Decreased circulating total IgM, Decreased circulating IgE, Decreased...	OMIM:618394
Immunodeficiency With Hyper-Igm, Type 2	Impaired Ig class switch recombination, Increased circulating IgM level, Decreased circulating Ig...	OMIM:605258
Nocardiosis	Respiratory distress, Liver abscess, Anorexia, Lymphadenitis, Nonproductive cough, Sepsis, Conjun...	ORPHA:31204
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant	Splenomegaly, Decreased proportion of class-switched memory B cells, Increased circulating IgM le...	OMIM:615513
Immunodeficiency 13	Lymphopenia, Nasal polyposis, Recurrent shingles, Recurrent pneumonia, Decreased proportion of CD...	OMIM:615518
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome	Increased circulating IgE level	ORPHA:1858
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes	T lymphocytopenia, Recurrent bacterial infections, Recurrent candida infections	OMIM:242870
Nijmegen Breakage Syndrome	Abnormal eyelid morphology, Deep philtrum, Low anterior hairline, Hemolytic anemia, Short stature...	ORPHA:647
Immunodeficiency 50	Recurrent respiratory infections, Recurrent urinary tract infections, Eczema, Neutropenia, Lympho...	OMIM:300988
Severe X-Linked Mitochondrial Encephalomyopathy	Respiratory distress, Increased connective tissue, Feeding difficulties in infancy, Respiratory i...	ORPHA:238329
Krt1-Related Diffuse Nonepidermolytic Keratoderma	Concave nail, Diffuse palmoplantar hyperkeratosis, Erythema, Nonepidermolytic palmoplantar hyperk...	ORPHA:530838
Intellectual Developmental Disorder, Autosomal Recessive 5	Smooth philtrum, Telecanthus, Small for gestational age, Eczema, Short stature, Postnatal growth ...	OMIM:611091
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis	Lymphopenia, Autoimmune hemolytic anemia, Plasmacytosis, Increased circulating antibody level	OMIM:247800
Rothmund-Thomson Syndrome	Aplastic anemia, Selective tooth agenesis, Nasogastric tube feeding in infancy, Vomiting, Neutrop...	ORPHA:2909
Braddock-Carey Syndrome 1	U-Shaped upper lip vermilion, Curly hair, Telecanthus, Hyperlordosis, Pierre-Robin sequence, Wide...	OMIM:619980
Christianson Syndrome	Cachexia, Feeding difficulties in infancy, Gastroesophageal reflux, Dysphagia, Arthrogryposis mul...	ORPHA:85278
Mandibulofacial Dysostosis With Alopecia	Preauricular pit, Alopecia, Sparse eyelashes, Cleft palate, Glossoptosis, Preauricular skin tag	OMIM:616367
Crouzon Syndrome	Hypopigmented skin patches, Narrow palate, Melanocytic nevus, Conjunctivitis, Iris coloboma, Ptosis	ORPHA:207
Combined Oxidative Phosphorylation Deficiency 19	Respiratory distress, Feeding difficulties, Stridor, Gastroesophageal reflux, Failure to thrive, ...	OMIM:615595
Acquired Hypertrichosis Lanuginosa	Abnormal eyebrow morphology, Hypopigmentation of hair, Abnormal eyelid morphology, Fine hair, Wei...	ORPHA:2221
Tricho-Retino-Dento-Digital Syndrome	Uncombable hair, Sparse hair	ORPHA:1264
Short Syndrome	Telecanthus, Alopecia, Corneal opacity, Severe short stature, Abnormal dental enamel morphology, ...	ORPHA:3163
Trichotillomania	Alopecia	OMIM:613229
Combined Oxidative Phosphorylation Defect Type 23	Feeding difficulties in infancy, Stridor, Respiratory failure, Paroxysmal dyspnea, Failure to thrive	ORPHA:444013
Riboflavin Transporter Deficiency	Iris hypopigmentation, Cachexia, Respiratory insufficiency, Hypogonadism, Dysphagia, Diabetes ins...	ORPHA:97229
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Respiratory distress, Neutrophilia, Osteomyelitis, Skin rash, Abscess, Failure to thrive in infan...	OMIM:612852
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome	Preauricular pit, Alopecia, Hyperpigmented papule	ORPHA:88630
Limb-Mammary Syndrome	Absent lacrimal punctum, Alopecia, Psoriasiform dermatitis, Chronic irritative conjunctivitis, Ab...	ORPHA:69085
H Syndrome	Microcytic anemia, Corneal arcus, Hernia, Alopecia, Psoriasiform dermatitis, Short stature, Cleft...	ORPHA:168569
Cockayne Syndrome Type 2	Scarring, Delayed eruption of primary teeth, Feeding difficulties in infancy, Kyphosis, Hypoplasi...	ORPHA:90322
Subcutaneous Panniculitis-Like T-Cell Lymphoma	Skin ulcer, Weight loss, Erythematous plaque, Panniculitis, Erythematous papule	ORPHA:86884
Hereditary Acrokeratotic Poikiloderma	Short stature, Eczema, Camptodactyly of finger, Pustule, Erythema, Xerostomia, Hypopigmented skin...	ORPHA:2907
Bacterial Toxic-Shock Syndrome	Respiratory distress, Fasciitis, Sinusitis, Myositis, Severe varicella zoster infection, Tachypne...	ORPHA:36234
Laryngeal Abductor Paralysis	Laryngomalacia, Respiratory insufficiency	ORPHA:2808
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome	Fasciitis, Pericarditis, Myositis, Skin rash, Intestinal obstruction, Abdominal pain, Orchitis, S...	ORPHA:32960
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh	Stridor, Kyphoscoliosis, Scoliosis, Dysphagia	OMIM:619574
Myotonia Fluctuans	Stridor, Laryngospasm, Apnea	ORPHA:99734
Psoriasis 14, Pustular	Parakeratosis, Neutrophilia, Psoriasiform dermatitis, Cholangitis, Pustule, Leukocytosis, Oligoar...	OMIM:614204
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies	Recurrent viral infections, Gastroesophageal reflux, Recurrent aspiration pneumonia, Neonatal res...	ORPHA:221139
Scapuloperoneal Spinal Muscular Atrophy	Hyperlordosis, Kyphosis, Respiratory insufficiency, Stridor, Scoliosis	OMIM:181405
Cockayne Syndrome Type 1	Cataract, Foot joint contracture, Scarring, Delayed eruption of primary teeth, Abnormality of the...	ORPHA:90321
Satb2-Associated Syndrome Due To A Pathogenic Variant	Thin upper lip vermilion, Abnormality of the dentition, Celiac disease, Postnatal growth retardat...	ORPHA:576283
Ichthyosis With Confetti	Short stature, Hypertrichosis, Palmoplantar hyperkeratosis, Hypoplastic nipples, Scaling skin, Er...	OMIM:609165
Hyperkeratosis Lenticularis Perstans	Papule, Aplasia/Hypoplasia of the skin, Skin ulcer, Hyperkeratosis lenticularis perstans	ORPHA:409
Biotinidase Deficiency	Respiratory distress, Alopecia, Skin rash, Apnea, Recurrent viral infections, Recurrent candida i...	ORPHA:79241
Ras-Associated Autoimmune Leukoproliferative Disorder	Hemolytic anemia, Pancytopenia, Autoimmune thrombocytopenia, Splenomegaly, Monocytosis, Increased...	OMIM:614470
Oculocerebrofacial Syndrome, Kaufman Type	Respiratory distress, High, narrow palate, Microcornea, Short philtrum, Microdontia, Absent eyebr...	ORPHA:2707
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome	Alopecia, Melanocytic nevus	OMIM:612079
Immunodeficiency 19	Recurrent respiratory infections, Chronic diarrhea, Severe viral infection, T lymphocytopenia, Ab...	OMIM:615617
Trichothiodystrophy 3, Photosensitive	Meckel diverticulum, Natal tooth, Cataract, Brittle hair, Failure to thrive, Short stature, Cario...	OMIM:616395
Eem Syndrome	Sparse scalp hair, Absent eyebrow, Sparse body hair	ORPHA:1897
Idiopathic Chronic Eosinophilic Pneumonia	Crackles, Nonproductive cough, Leukocytosis, Dyspnea, Hypereosinophilia, Atopic dermatitis, Wheez...	ORPHA:2902
Mandibuloacral Dysplasia	Loss of subcutaneous adipose tissue in limbs, Alopecia, Lipoatrophy, Increased subcutaneous trunc...	ORPHA:2457
Combined D-2- And L-2-Hydroxyglutaric Aciduria	Stridor, Dyspnea, Respiratory insufficiency, Feeding difficulties	OMIM:615182
Dyskeratosis Congenita, Autosomal Recessive 3	Oral leukoplakia, Nail dystrophy, Squamous cell carcinoma of the tongue	OMIM:613988
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Lymphadenitis, Severe varicella zoster infection, Sepsis, Leukopenia, T lymphocytopenia, Neutrope...	OMIM:618986
Filippi Syndrome	Postnatal growth retardation, Cryptorchidism, Hypertrichosis, Wide nasal bridge, Thin vermilion b...	OMIM:272440
Immunodeficiency 23	Hemolytic anemia, Abscess, Eosinophilia, Erythema, Increased circulating IgE level, Increased cir...	OMIM:615816
Gand Syndrome	Sparse hair	OMIM:615074
Immunodeficiency 85 And Autoimmunity	Tube feeding, Recurrent respiratory infections, Villous atrophy, Failure to thrive in infancy, Ec...	OMIM:619510
Mulibrey Nanism	Intrauterine growth retardation, Short stature, Wide nasal bridge, Cachexia	ORPHA:2576
Immunodeficiency 62	Recurrent herpes, Autoimmune thrombocytopenia, Severe recurrent varicella, Recurrent upper respir...	OMIM:618459
Even-Plus Syndrome	Highly arched eyebrow, Synophrys, High palate, Sparse hair, Aplasia cutis congenita, Anal atresia	OMIM:616854
Congenital Disorder Of Glycosylation, Type Iy	Joint dislocation, Respiratory distress, Feeding difficulties, Wide mouth, Widely spaced teeth, S...	OMIM:300934
Scedosporiosis	Sinusitis, Sepsis, Pulmonary tuberculosis, Cough, Abnormal jejunum morphology, Unusual skin infec...	ORPHA:449280
Fazio-Londe Disease	Progressive inspiratory stridor, Dysphagia, Ptosis	OMIM:211500
Cutaneous Telangiectasia And Cancer Syndrome, Familial	Ridged nail, Alopecia, Yellow nails, Onycholysis, Nail dystrophy, Sparse lateral eyebrow	OMIM:614564
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 1	Pancytopenia, Aplastic anemia, Crackles, Dyspnea, Premature graying of hair, Gastroesophageal ref...	OMIM:614742
Immunodeficiency With Hyper-Igm, Type 1	Hemolytic anemia, Dysgammaglobulinemia, Impaired Ig class switch recombination, Increased circula...	OMIM:308230
Atopic Keratoconjunctivitis	Corneal opacity, Abnormal eyelid morphology, Keratitis, Loss of eyelashes, Keratoconjunctivitis s...	ORPHA:163934
Sting-Associated Vasculopathy, Infantile-Onset	Nailfold capillary tortuosity, Lymphopenia, Myositis, Failure to thrive, Skin rash, Recurrent res...	OMIM:615934
Alopecia-Intellectual Disability Syndrome 4	Alopecia	OMIM:618840
Listeriosis	Respiratory distress, Liver abscess, Abnormal cellular immune system morphology, Sepsis, Granulom...	ORPHA:533
Trichohepatoenteric Syndrome 2	Villous atrophy, Brittle hair, Uncombable hair, Colitis, Sparse hair, Woolly hair, Trichorrhexis ...	OMIM:614602
Recon Progeroid Syndrome	Short stature, Hyperconvex thumb nails, Red eye, Absent lower eyelashes, Growth delay, Keratoconj...	OMIM:620370
Chromosome 19Q13.11 Deletion Syndrome, Distal	Feeding difficulties in infancy, Short philtrum, Sparse hair, Short stature, Sparse eyebrow, Cryp...	OMIM:613026
Tuberculosis	Weight loss	ORPHA:3389
Multiple System Atrophy	Stridor, Female anorgasmia, Constipation, Autonomic erectile dysfunction	ORPHA:102
Dyskeratosis Congenita, Autosomal Recessive 8	Sparse scalp hair, Esophageal stricture, Pancolitis, Inflammation of the large intestine, Nail dy...	OMIM:620133
Bainbridge-Ropers Syndrome	Dental crowding, Synophrys, Contracture of the proximal interphalangeal joint of the 4th finger, ...	OMIM:615485
Robin Sequence With Cleft Mandible And Limb Anomalies	Abnormal aryepiglottic fold morphology, Short stature, Hip subluxation, Agenesis of mandibular ce...	OMIM:268305
Rothmund-Thomson Syndrome Type 2	Joint dislocation, Aplastic anemia, Long nose, Patellar hypoplasia, High palate, Vomiting, Neutro...	ORPHA:221016
Dyskeratosis Congenita, Autosomal Dominant 1	Ridged nail, Alopecia, Aplastic anemia, Carious teeth, Thrombocytopenia, Dyspnea, Nail pits, Prem...	OMIM:127550
Multiple System Atrophy, Cerebellar Type	Neuromuscular dysphagia, Stridor, Constipation, Female anorgasmia, Autonomic erectile dysfunction	ORPHA:227510
Farber Disease	Respiratory distress, Flexion contracture, Cherry red spot of the macula, Abnormality of the wris...	ORPHA:333
Lassa Fever	Nausea and vomiting, Pharyngitis, Menometrorrhagia, Abdominal pain, Dyspnea, Diarrhea, Sepsis, Dy...	ORPHA:99824
Immunodeficiency 110 With Lymphoproliferation	Autoimmune hemolytic anemia, Recurrent skin infections, Recurrent viral infections, Recurrent pne...	OMIM:614868
Menkes Disease	Sparse hair, Alopecia, Brittle hair, Cutis laxa	OMIM:309400
Multiple System Atrophy, Parkinsonian Type	Stridor, Female anorgasmia, Constipation, Autonomic erectile dysfunction	ORPHA:98933
Premature Ovarian Failure 2B	Premature ovarian insufficiency, Female infertility, Abnormality of the dentition, Primary amenor...	OMIM:300604
Intestinal Dysmotility Syndrome	Failure to thrive, Cataract, High palate, Weight loss	OMIM:620045
Cataract-Intellectual Disability-Hypogonadism Syndrome	Cataract, Hypogonadotropic hypogonadism, Short stature, Hyperlordosis, Feeding difficulties in in...	ORPHA:1387
Liang-Wang Syndrome	Thin upper lip vermilion, Diastema, Synophrys, Gingival overgrowth, Wide nasal bridge, Downturned...	OMIM:618729
Cohen Syndrome	Abnormal eyelid morphology, Feeding difficulties in infancy, High, narrow palate, Low anterior ha...	ORPHA:193
Anauxetic Dysplasia 2	Short stature, Thoracolumbar kyphoscoliosis, Ovoid vertebral bodies, Hyperlordosis, Posterior wed...	OMIM:617396
2Q32Q33 Microdeletion Syndrome	Dental crowding, Short stature, Cleft palate, Fine hair, Growth delay, Feeding difficulties, Olig...	ORPHA:251019
Immunodeficiency 84	Perianal abscess, Splenomegaly, Persistent EBV viremia, Recurrent bacterial infections, B lymphoc...	OMIM:619437
Rothmund-Thomson Syndrome Type 1	Aplastic anemia, Patellar hypoplasia, Vomiting, Neutropenia, Sparse hair, Microdontia, Juvenile c...	ORPHA:221008
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Increased circulating a...	OMIM:615285
Congenital Disorder Of Glycosylation, Type Iic	Neutrophilia, Short stature, Pneumonia, Widow's peak, Bronchiolitis, Periodontitis, Reduction of ...	OMIM:266265
Yao Syndrome	Inflammatory abnormality of the skin, Pericarditis, Skin rash, Xerostomia, Weight loss, Arthritis...	OMIM:617321
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia	Joint dislocation, Recurrent respiratory infections, Recurrent urinary tract infections, Recurren...	OMIM:620210
Mandibuloacral Dysplasia With Type B Lipodystrophy	Loss of subcutaneous adipose tissue in limbs, Alopecia, Decreased adipose tissue around neck, Den...	OMIM:608612
Dyskeratosis Congenita, Autosomal Dominant 3	Pancytopenia, Alopecia, Aplastic anemia, Short stature, Cryptorchidism, Fine hair, Premature gray...	OMIM:613990
Insulin-Resistance Syndrome Type B	Osteoarthritis, Fasting hyperinsulinemia, Increased body weight, Leukopenia, Abnormal salivary gl...	ORPHA:2298
Congenital Disorder Of Glycosylation, Type Iig	Thoracic scoliosis, Feeding difficulties in infancy, Glossoptosis, Vertebral segmentation defect,...	OMIM:611209
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Chronic oral candidiasis, Abscess, Abnormal CD4:CD8 ratio, Splenomegaly, Diarrhea, Recurrent pneu...	OMIM:150550
Mitochondrial Dna Depletion Syndrome, Myopathic Form	Respiratory distress, Failure to thrive in infancy, Respiratory insufficiency due to muscle weakn...	ORPHA:254875
Gaucher Disease Type 2	Respiratory distress, Recurrent respiratory infections, Splenomegaly, Flexion contracture, Dyspha...	ORPHA:77260
T-Cell Immunodeficiency With Thymic Aplasia	Sinusitis, Decreased proportion of naive T cells, Sepsis, Recurrent candida infections, T lymphoc...	ORPHA:83471
Chilblain Lupus	Inflammatory abnormality of the skin, Skin rash, Discoid lupus rash, Skin ulcer, Erythematous pap...	ORPHA:90280
Lessel-Kubisch Syndrome	Sparse pubic hair, Premature graying of hair	OMIM:618681
Autoimmune Polyendocrinopathy Type 4	Atrophic gastritis, Xerostomia, Tubulointerstitial nephritis, Leukopenia, Hashimoto thyroiditis, ...	ORPHA:227990
Erythrokeratodermia Variabilis Et Progressiva 4	Hyperkeratosis, Erythema, Epidermal acanthosis, Palmoplantar hyperkeratosis	OMIM:617526
Infantile Krabbe Disease	Respiratory distress, Cachexia, Nasogastric tube feeding in infancy, Feeding difficulties, Ankle ...	ORPHA:206436
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6	Pancytopenia, Premature graying of hair, Restrictive ventilatory defect, Nail dystrophy, Bone mar...	OMIM:619767
Macs Syndrome	Irregular dentition, High palate, Sparse hair, Decreased body weight, Alopecia, Short stature, Sp...	OMIM:613075
Relapsing Polychondritis	Episcleritis, Pericarditis, Cataract, Alopecia, Chondritis of pinna, Keratitis, Myocarditis, Dysp...	ORPHA:728
Satoyoshi Syndrome	Alopecia, Alopecia universalis, Malabsorption	OMIM:600705
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea	Thin upper lip vermilion, Crackles, Dyspnea, Leukocytosis, Asthma, Wheezing, Bronchiectasis, Chro...	OMIM:620233
Mitochondrial Complex I Deficiency, Nuclear Type 33	Apnea, Small for gestational age, Bronchiectasis, Respiratory insufficiency, Dysphagia, Feeding d...	OMIM:618253
Laryngeal Neuroendocrine Tumor	Anorexia, Oral-pharyngeal dysphagia, Neoplasm of the larynx, Adrenocorticotropic hormone excess, ...	ORPHA:100083
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2	Respiratory distress, Sideroblastic anemia, Respiratory insufficiency due to muscle weakness, Gro...	OMIM:613561
Palmoplantar Keratoderma, Nonepidermolytic, Focal Or Diffuse	Plantar hyperkeratosis, Palmoplantar keratoderma, Oral leukoplakia	OMIM:615735
Alpha-1-Antitrypsin Deficiency	Dyspnea, Splenomegaly, Chronic pulmonary obstruction, Wheezing, Bronchiectasis, Panacinar emphyse...	OMIM:613490
Kury-Isidor Syndrome	Alopecia, Tented upper lip vermilion, Hypertrichosis, Feeding difficulties, Growth delay, Astigma...	OMIM:619762
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly	Thin upper lip vermilion, Epicanthus, Tented upper lip vermilion, Curly hair, Kyphoscoliosis, Spa...	OMIM:620075
Autoimmune Lymphoproliferative Syndrome	Autoimmune hemolytic anemia, Eosinophilia, Increased circulating IgA level, Autoimmune thrombocyt...	OMIM:601859
Immunodeficiency 78 With Autoimmunity And Developmental Delay	Autoimmune hemolytic anemia, Fluctuating splenomegaly, Autoimmune thrombocytopenia, Neutropenia i...	OMIM:619220
Periodic Fever, Familial, Autosomal Dominant	Gastrointestinal hemorrhage, Myositis, Skin rash, Maculopapular exanthema, Abdominal pain, Chroni...	OMIM:142680
Immunodeficiency 107, Susceptibility To Invasive Staphylococcus Aureus Infection	Chronic furunculosis, Pyoderma gangrenosum, Cutaneous abscess	OMIM:619986
Silver-Russell Syndrome	Dental crowding, Failure to thrive in infancy, Cachexia, Short stature, Precocious puberty, Postn...	ORPHA:813
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2	Epicanthus, Small for gestational age, Short stature, Kyphoscoliosis, Hyperlordosis, Increased ve...	OMIM:616817
Agel Amyloidosis	Tongue atrophy, Cataract, Bilateral ptosis, Xerostomia, Dry skin, Cutis laxa, Keratoconjunctiviti...	ORPHA:85448
Autoimmune Polyendocrinopathy Type 3	Atrophic gastritis, Autoimmune hypoparathyroidism, Xerostomia, Tubulointerstitial nephritis, Leuk...	ORPHA:227982
Corpus Callosum, Agenesis Of, With Facial Anomalies And Cerebellar Ataxia	Low anterior hairline, Hirsutism, Long eyelashes, Sparse hair, Thick eyebrow	OMIM:616819
Down Syndrome	Downturned corners of mouth, Sparse hair, Microdontia, Hypothyroidism, Obesity, Narrow mouth, Umb...	ORPHA:870
Thrombocytopenia 1	Increased circulating IgA level, Increased circulating IgE level, Decreased mean platelet volume,...	OMIM:313900
Braddock Syndrome	Epicanthus, Neonatal respiratory distress, Short stature, Laryngeal web, Abnormal hair pattern, M...	ORPHA:52047
Usmani-Riazuddin Syndrome, Autosomal Recessive	Epicanthus, High palate, Conjunctival hyperemia	OMIM:619548
Immunodeficiency 64 With Lymphoproliferation	Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos...	OMIM:618534
Dyskeratosis Congenita, Autosomal Recessive 1	Sparse scalp hair, Pancytopenia, Aplastic anemia, Sparse eyelashes, Carious teeth, Esophageal str...	OMIM:224230
Immunodeficiency 70	Celiac disease, Retinal vasculitis, Colitis, B lymphocytopenia, Recurrent sinusitis, Decreased pr...	OMIM:618969
Prolidase Deficiency	Aplasia/Hypoplasia of the skin, Abnormal fingernail morphology, Crusting erythematous dermatitis,...	ORPHA:742
Roifman Syndrome	Hip contracture, Biconvex vertebral bodies, Thin upper lip vermilion, Hypogonadotropic hypogonadi...	ORPHA:353298
Mantle Cell Lymphoma	Weight loss	ORPHA:52416
Kawasaki Disease	Nausea and vomiting, Pericarditis, Abnormality of nail color, Skin rash, Abdominal pain, Myocardi...	ORPHA:2331
Cardiofaciocutaneous Syndrome 4	Absent eyebrow, Curly hair, Sparse eyelashes, Palmoplantar hyperkeratosis, Cafe-au-lait spot, Mul...	OMIM:615280
Papillon-Lefèvre Syndrome	Liver abscess, Severe periodontitis, Gingivitis, Palmoplantar hyperkeratosis, Periodontitis, Abno...	ORPHA:678
Tooth Agenesis, Selective, 4	Sparse scalp hair, Sparse eyebrow, Short eyelashes, Thin skin, Palmar hyperkeratosis, Dry skin, D...	OMIM:150400
Felty Syndrome	Sinusitis, Sepsis, Neutropenia, Chronic otitis media, Abnormal lymphocyte morphology, Recurrent p...	ORPHA:47612
Immunodeficiency With Hyper-Igm, Type 5	Increased circulating IgM level, Decreased circulating IgG level, Impaired Ig class switch recomb...	OMIM:608106
Johanson-Blizzard Syndrome	Delayed eruption of teeth, Absent lacrimal punctum, Alopecia, Diabetes mellitus, Short stature, A...	ORPHA:2315
Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb	Thin upper lip vermilion, Epicanthus, Short stature, Pierre-Robin sequence, Short nose, Wide nasa...	OMIM:613604
Infantile-Onset X-Linked Spinal Muscular Atrophy	Respiratory distress, Hip contracture, Interphalangeal joint contracture of finger, Ankle flexion...	ORPHA:1145
Congenital Disorder Of Glycosylation, Type Ie	Respiratory distress, Ankle flexion contracture, Splenomegaly, High, narrow palate, Knee flexion ...	OMIM:608799
Autoimmune Polyendocrine Syndrome, Type Ii	Alopecia, Cataract, Hyperthyroidism, Subglottic laryngitis, Band keratopathy, Asplenia, Primary a...	OMIM:269200
Alexander Disease Type I	Cachexia, Vomiting, Scoliosis, Dysphagia, Failure to thrive	ORPHA:363717
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2	Prominent metopic ridge, Short stature, Eczema, Hyperconvex nail, Genu valgum, Chronic constipati...	OMIM:619721
Hypogonadotropic Hypogonadism 7 With Or Without Anosmia	Sparse pubic hair, Sparse axillary hair	OMIM:146110
Cernunnos-Xlf Deficiency	Recurrent viral infections, Anemia, T lymphocytopenia, Growth delay, Recurrent bacterial infectio...	ORPHA:169079
2P15P16.1 Microdeletion Syndrome	High palate, Prominent metopic ridge, Sparse eyebrow, Wide nasal bridge, Scoliosis, Narrow mouth,...	ORPHA:261349
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Respiratory distress, Nausea and vomiting, Anorexia, Abdominal pain, Splenomegaly, Feeding diffic...	ORPHA:79312
Leishmaniasis	Pancytopenia, Abnormal macrophage morphology, Thrombocytopenia, Splenomegaly, Skin ulcer, Anemia,...	ORPHA:507
Lysosomal Acid Lipase Deficiency	Adrenal calcification, Bone-marrow foam cells, Vacuolated lymphocytes, Vomiting, Abdominal pain, ...	ORPHA:275761
Laryngeal Abductor Paralysis-Intellectual Disability Syndrome	Neonatal asphyxia, Bronchiectasis, Congenital laryngeal stridor	ORPHA:2375
Autoimmune Lymphoproliferative Syndrome	Increased circulating IgG level, Lymphocytosis, Increased B cell count, Decreased circulating IgG...	ORPHA:3261
Myasthenic Syndrome, Congenital, 6, Presynaptic	Respiratory distress, Sudden episodic apnea, Respiratory insufficiency due to muscle weakness, Ap...	OMIM:254210
Myhre Syndrome	Short philtrum, Sparse hair, Broad ribs, Vertebral fusion, Short stature, Cleft lip, Cryptorchidi...	OMIM:139210
Primary Pulmonary Hypoplasia	Recurrent respiratory infections, Epicanthus, Neonatal respiratory distress, Apnea, Asthma, Tachy...	ORPHA:2257
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome	Alopecia, Severe short stature, Abnormal dental enamel morphology, Kyphosis, Abnormality of the e...	ORPHA:1005
Fanconi Anemia, Complementation Group S	Epicanthus, Macrodontia, Short stature, Dental malocclusion, Low anterior hairline, Narrow palate...	OMIM:617883
Dermatofibrosarcoma Protuberans	Subcutaneous nodule, Erythema, Skin ulcer	ORPHA:31112
Epidermolysis Bullosa Simplex 4, Localized Or Generalized Intermediate, Autosomal Recessive	Hyperkeratosis, Epidermal acanthosis	OMIM:615028
Ectodermal Dysplasia-Skin Fragility Syndrome	Chapped lip, Recurrent skin infections, Short stature, Scarring, Abnormal tongue morphology, Recu...	ORPHA:158668
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1	Epicanthus, Sinusitis, Failure to thrive, Pneumonia, Short stature, Protruding tongue, Malabsorpt...	OMIM:242860
Immunodeficiency 49	Impaired lymphocyte transformation with phytohemagglutinin, Natal tooth, Psoriasiform dermatitis,...	OMIM:617237
D-2-Hydroxyglutaric Aciduria 1	Episodic vomiting, Apnea, Inspiratory stridor	OMIM:600721
Diencephalic Syndrome	Abnormality of the hypothalamus-pituitary axis, Everted lower lip vermilion, Cachexia, Decreased ...	ORPHA:1672
Chops Syndrome	High, narrow palate, Synophrys, Downturned corners of mouth, Coarse hair, Gastroesophageal reflux...	OMIM:616368
Kaufman Oculocerebrofacial Syndrome	Congenital hip dislocation, Feeding difficulties in infancy, Microcornea, High palate, Sparse hai...	OMIM:244450
Larynx, Congenital Partial Atresia Of	Laryngeal obstruction, Laryngeal web	OMIM:150300
Primary Ciliary Dyskinesia	Male infertility, Recurrent sinopulmonary infections, Neonatal respiratory distress, Nasal polypo...	ORPHA:244
Keutel Syndrome	Recurrent respiratory infections, Alopecia, Short stature, Calcification of cartilage, Recurrent ...	ORPHA:85202
Prolidase Deficiency	Eczema, Recurrent pneumonia, Crusting erythematous dermatitis, Skin ulcer, Low posterior hairline...	OMIM:170100
Leptin Deficiency Or Dysfunction	Recurrent ear infections, Decreased serum leptin, Recurrent pneumonia, Recurrent upper respirator...	OMIM:614962
Roifman Syndrome	Hip contracture, Biconvex vertebral bodies, Thin upper lip vermilion, Short stature, Eczema, Eosi...	OMIM:616651
Lacrimal Duct Defect	Sinusitis, Dacryocystitis, Lacrimal duct atresia, Conjunctivitis, Dacryocystocele	OMIM:149700
Dyskeratosis Congenita, Digenic	Decreased testicular size, Alopecia, Sparse eyelashes, Short stature, Abnormality of the dentitio...	OMIM:620040
Obesity Due To Congenital Leptin Deficiency	Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant diabetes mellitus, Abse...	ORPHA:66628
Paramyotonia Congenita	Inspiratory stridor, Feeding difficulties	OMIM:168300
Mgat2-Cdg	Impaired lymphocyte transformation with phytohemagglutinin, Respiratory distress, Dental crowding...	ORPHA:79329
Shwachman-Diamond Syndrome 1	Acute myeloid leukemia, Respiratory distress, Pancytopenia, Neonatal respiratory distress, Small ...	OMIM:260400
Oculopharyngodistal Myopathy	Abnormal morphology of musculature of pharynx, Oral-pharyngeal dysphagia, Respiratory insufficien...	ORPHA:98897
Lymphoid Interstitial Pneumonia	Skin rash, Eczema, Crackles, Dyspnea, Wheezing, Severe viral infection, Bronchiectasis, Weight lo...	ORPHA:79128
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome	Respiratory distress, Recurrent infections	ORPHA:171703
Jansen-De Vries Syndrome	Thin upper lip vermilion, Short stature, Hyperlordosis, Central diaphragmatic hernia, Feeding dif...	OMIM:617450
Obesity Due To Leptin Receptor Gene Deficiency	Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant diabetes mellitus, Abse...	ORPHA:179494
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy	Respiratory distress, Inguinal hernia, Cataract, Flexion contracture, Sepsis, Feeding difficultie...	ORPHA:544503
Monosomy 18P	Epicanthus, Alopecia, Short stature, Kyphoscoliosis, Carious teeth, Wide nasal bridge, Cleft pala...	ORPHA:1598
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked	Respiratory distress, Short stature, Respiratory insufficiency due to muscle weakness, Decreased ...	OMIM:300580
Aspergillosis	Localized skin lesion, Increased circulating IgE level, Eosinophilia, Neutropenia	ORPHA:1163
Congenital Disorder Of Glycosylation, Type Iu	Respiratory distress, Thin upper lip vermilion, Neonatal respiratory distress, Feeding difficulti...	OMIM:615042
Noonan Syndrome 14	Curly hair, Epicanthus, Lacrimal duct stenosis, Short stature, Sparse eyebrow, High, narrow palat...	OMIM:619745
Neuropathy, Hereditary Sensory, Type Iic	Short stature, Acral ulceration	OMIM:614213
Congenital Disorder Of Glycosylation, Type Im	Alopecia, Sparse eyelashes, Sparse eyebrow, Hyperkeratosis, Dry skin	OMIM:610768
Craniofaciofrontodigital Syndrome	Respiratory distress, Large for gestational age, Gastrointestinal dysmotility, Low anterior hairl...	ORPHA:363705
Immunodeficiency 36 With Lymphoproliferation	Short stature, Persistent CMV viremia, Splenomegaly, Chronic diarrhea, Recurrent upper respirator...	OMIM:616005
Hypothyroidism, Congenital, Nongoitrous, 2	Thyroid agenesis, Feeding difficulties in infancy, Abdominal distention, Elevated circulating thy...	OMIM:218700
Werner Syndrome	Abnormal hair whorl, Premature graying of hair, Thyroid carcinoma, Short stature, Secondary ameno...	ORPHA:902
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0	Respiratory distress, Nausea and vomiting, Sepsis, Anemia, Growth delay, Neutropenia, Pancreatiti...	ORPHA:289916
Atypical Werner Syndrome	Abnormal hair whorl, Fasting hyperinsulinemia, Premature graying of hair, Fragile nails, Alopecia...	ORPHA:79474
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta	Chronic oral candidiasis, Recurrent herpes, Pneumonia, Eosinophilia, Anorexia, Diarrhea, Recurren...	ORPHA:169160
Cardiofaciocutaneous Syndrome 1	Feeding difficulties in infancy, Deep philtrum, High palate, Vomiting, Gastroesophageal reflux, S...	OMIM:115150
Ring Chromosome 10 Syndrome	Aganglionic megacolon, Cachexia, Wide nasal bridge, Thin vermilion border, Long philtrum, Intraut...	ORPHA:1438
Immunodeficiency, Common Variable, 10	Trachyonychia, Psoriasiform dermatitis, Frequent Giardia lamblia infestation, Decreased response ...	OMIM:615577
Oocyte/Zygote/Embryo Maturation Arrest 9	Oocyte arrest at metaphase I, Female infertility	OMIM:619011
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome	Recurrent respiratory infections, Short stature, Cachexia, Long philtrum, Short nose, Abnormal pa...	ORPHA:1389
Immunodeficiency 7	Recurrent respiratory infections, Autoimmune hemolytic anemia, Splenomegaly, Diarrhea, Severe var...	OMIM:615387
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency	Recurrent herpes, Decreased proportion of naive T cells, Sepsis, Recurrent cutaneous fungal infec...	ORPHA:276
Wiskott-Aldrich Syndrome	Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Absent m...	OMIM:301000
Malaria	Anemia, Respiratory distress, Thrombocytopenia, Nausea and vomiting	ORPHA:673
Xp22.13P22.2 Duplication Syndrome	Macroorchidism, Short stature, Congenital diaphragmatic hernia, Recurrent upper respiratory tract...	ORPHA:284180
Nestor-Guillermo Progeria Syndrome	Dental crowding, Limited elbow movement, Flexion contracture, Rib osteolysis, Alopecia, Short sta...	OMIM:614008
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities	Medial flaring of the eyebrow, Cataract, Tented upper lip vermilion, Exaggerated cupid's bow, Sho...	OMIM:619833
Acral Peeling Skin Syndrome	Macule, Eczema, Erythema, Scaling skin, Skin erosion, Papule, Excessive wrinkling of palmar skin	ORPHA:263534
Whistling Face Syndrome, Recessive Form	Telecanthus, Epicanthus, Inguinal hernia, Shoulder flexion contracture, Kyphoscoliosis, Narrow mo...	OMIM:277720
Laryngeal Abductor Paralysis	Stridor, Dysphagia	OMIM:150260
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome	Absent eyebrow, Alopecia, Sparse scalp hair, Sparse eyelashes, Epidermal hyperkeratosis, Absent e...	OMIM:137940
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant	Increased circulating IgE level	OMIM:618985
Orofaciodigital Syndrome Type 14	Telecanthus, Hamartoma of tongue, Accessory oral frenulum, Bilateral cryptorchidism, Supernumerar...	ORPHA:434179
Trichothiodystrophy 5, Nonphotosensitive	Brittle hair, Slow-growing hair, Sparse eyebrow, Chronic decreased circulating IgG1, Reduced hair...	OMIM:300953
Noonan Syndrome 6	Juvenile myelomonocytic leukemia, Epicanthus, Curly hair, Short stature, Long eyebrows, Bilateral...	OMIM:613224
Intellectual Developmental Disorder, Autosomal Dominant 42	Asthma, Cleft palate, Congenital hypothyroidism, Stridor, Growth delay, Feeding difficulties, Hig...	OMIM:616973
Ataxia-Telangiectasia	Recurrent respiratory infections, Hypopigmentation of hair, Diabetes mellitus, Failure to thrive,...	ORPHA:100
Pelizaeus-Merzbacher Disease	Recurrent respiratory infections, Failure to thrive in infancy, Short stature, Cachexia, Bowel in...	ORPHA:702
Arboleda-Tham Syndrome	Respiratory distress, Bilateral cryptorchidism, Downturned corners of mouth, Conjunctivitis, Shor...	OMIM:616268
Desmoplastic Small Round Cell Tumor	Nausea and vomiting, Cachexia, Abdominal pain, Testicular neoplasm, Abdominal distention, Ileus, ...	ORPHA:83469
Xeroderma Pigmentosum	Conjunctival telangiectasia, Ankyloblepharon, Pterygium, Macule, Alopecia, Short stature, Hyperme...	ORPHA:910
Vater/Vacterl Association	Laryngeal stenosis, Abnormal nasopharynx morphology, Postnatal growth retardation, Esophageal atr...	OMIM:192350
Bone Dysplasia, Lethal Holmgren Type	Joint dislocation, Nausea and vomiting, Recurrent respiratory infections, Rhizomelia, Diarrhea, A...	ORPHA:1842
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy	Telecanthus, Camptodactyly of finger, Cachexia, Wrist swelling, Wide nasal bridge, Downturned cor...	ORPHA:2774
Myasthenic Syndrome, Congenital, 4A, Slow-Channel	Respiratory distress, Sudden episodic apnea, Respiratory insufficiency due to muscle weakness, Fe...	OMIM:605809
High Altitude Pulmonary Edema	Nausea and vomiting, Orthopnea, Crackles, Anorexia, Dyspnea, Leukocytosis, Tachypnea, Hypoxemia, ...	ORPHA:330012
Acute Myelomonocytic Leukemia	Eosinophilia, Dyspnea, Leukocytosis, Abnormality of the gingiva, Weight loss, Anemia, Thrombocyto...	ORPHA:517
Ciliary Dyskinesia, Primary, 15	Recurrent respiratory infections, Neonatal respiratory distress, Nasal polyposis, Wheezing, Recur...	OMIM:613808
Mogs-Cdg	Respiratory distress, Hypoventilation, Thoracic scoliosis, Alopecia, Apnea, Short palpebral fissu...	ORPHA:79330
Lupus Erythematosus Tumidus	Urticarial plaque, Deep dermal perivascular inflammatory infiltrate, Scarring, Erythematous plaqu...	ORPHA:90283
Primary Myelofibrosis	Pancytopenia, Extramedullary hematopoiesis, Cachexia, Anorexia, Thrombocytopenia, Leukocytosis, S...	ORPHA:824
Moebius Syndrome	Respiratory distress, Decreased testicular size, Epicanthus, Abnormal nasopharynx morphology, Hyp...	OMIM:157900
Brain Dopamine-Serotonin Vesicular Transport Disease	Stridor, Ptosis	ORPHA:352649
Trisomy 18	Congenital diaphragmatic hernia, Microcornea, Hernia, Abnormal toenail morphology, Iris coloboma,...	ORPHA:3380
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones	Failure to thrive, Sparse facial hair, Small for gestational age, Sparse axillary hair, Short sta...	OMIM:608154
Chikungunya	Macule, Maculopapular exanthema, Skin rash, Erythema nodosum, Crusting erythematous dermatitis, E...	ORPHA:324625
Generalized Pseudohypoaldosteronism Type 1	Osteomyelitis, Failure to thrive in infancy, Proportionate short stature, Pustule, Glucocortocoid...	ORPHA:171876
Proteasome-Associated Autoinflammatory Syndrome 2	Increased CD4:CD8 ratio, Neutrophilic infiltration of the skin, Skin rash, Lipodystrophy, Recurre...	OMIM:618048
Immunodeficiency 31C	Villous atrophy, Protein-losing enteropathy, Cough, Disseminated histoplasmosis, Recurrent vulvov...	OMIM:614162
Ane Syndrome	Decreased serum insulin-like growth factor 1, Multiple joint contractures, Hypogonadotropic hypog...	ORPHA:157954
Orofaciodigital Syndrome Xiv	Natal tooth, Telecanthus, Hamartoma of tongue, Cleft lip, Supernumerary tooth, Cryptorchidism, Ap...	OMIM:615948
Agammaglobulinemia 10, Autosomal Dominant	Recurrent respiratory infections, Transient neutropenia, Recurrent sinusitis, Absent circulating ...	OMIM:619707
Porphyria, Congenital Erythropoietic	Absent eyebrow, Hemolytic anemia, Erythrodontia, Alopecia, Short stature, Splenomegaly, Loss of e...	OMIM:263700
Palmoplantar Keratoderma I, Striate, Focal, Or Diffuse	Epidermal acanthosis, Yellow nails, Palmoplantar hyperkeratosis, Hyperhidrosis, Orthokeratotic hy...	OMIM:148700
Donohue Syndrome	Precocious puberty, Adipose tissue loss, Postnatal growth retardation, Thick lower lip vermilion,...	OMIM:246200
Subaortic Stenosis-Short Stature Syndrome	Epicanthus, Inguinal hernia, Acne, Short stature, Abnormal vocal cord morphology, Kyphosis, Obesi...	ORPHA:3191
Solar Urticaria	Pruritus, Dyspnea, Abnormal tongue morphology, Wheezing, Abnormal lip morphology, Nausea	ORPHA:97230
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria	Short stature, Generalized hirsutism, Cachexia, Ptosis	ORPHA:1933
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
Takayasu Arteritis	Increased inflammatory response, Subcutaneous nodule, Skin ulcer, Weight loss, Hyperhidrosis, Art...	ORPHA:3287
Galactose Epimerase Deficiency	Growth delay, Cataract, Weight loss	ORPHA:79238
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
X-Linked Dominant Chondrodysplasia Punctata	Cataract, Sparse eyelashes, Short stature, Abnormal hair pattern, Sparse eyebrow, Scarring alopec...	ORPHA:35173
Wiedemann-Steiner Syndrome	Elbow hypertrichosis, Synophrys, High palate, Generalized hirsutism, Brow ptosis, Exaggerated cup...	OMIM:605130
Lymphangiectasia, Intestinal	Malabsorption, Abnormal hair morphology, Stillbirth, Intestinal lymphangiectasia, Lymphopenia, Pr...	OMIM:152800
Koolen-De Vries Syndrome	Feeding difficulties in infancy, High palate, Widely spaced teeth, Iris hypopigmentation, Vertebr...	OMIM:610443
Neurodevelopmental Disorder With Spasticity, Seizures, And Brain Abnormalities	Prominent metopic ridge, Tented upper lip vermilion, Flexion contracture, Dysphagia, High palate,...	OMIM:620001
Neurodevelopmental Disorder With Hypotonia, Microcephaly, And Seizures	Thin upper lip vermilion, Prominent metopic ridge, Short stature, Unilateral cryptorchidism, Feed...	OMIM:618862
Cranioectodermal Dysplasia	Epicanthus, Abnormal fingernail morphology, Abnormal dental enamel morphology, Craniosynostosis, ...	ORPHA:1515
Xeroderma Pigmentosum, Variant Type	Entropion, Keratitis, Growth delay, Conjunctivitis, Dermal atrophy, Ectropion	OMIM:278750
Schimke Immuno-Osseous Dysplasia	Neutropenia, Microdontia, Intrauterine growth retardation, Lumbar hyperlordosis, Short stature, M...	ORPHA:1830
Lujo Hemorrhagic Fever	Respiratory distress, Pharyngitis, Skin rash, Maculopapular exanthema, Crackles, Myocarditis, Ful...	ORPHA:319213
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency	Sinusitis, Recurrent bacterial meningitis, Recurrent bacterial upper respiratory tract infections...	ORPHA:70593
Neurogenic Arthrogryposis Multiplex Congenita	Respiratory distress, Hip contracture, Ankle flexion contracture, Respiratory insufficiency due t...	ORPHA:1143
Gomez-Lopez-Hernandez Syndrome	Alopecia, Short stature, Decreased response to growth hormone stimulation test, Craniosynostosis,...	OMIM:601853
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome	Crackles, Dyspnea, Hepatosplenomegaly, Restrictive ventilatory defect, Abnormal breath sound, Bon...	ORPHA:210136
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy	Respiratory distress, Thin upper lip vermilion, Recurrent respiratory infections, Deep philtrum, ...	ORPHA:329178
Chromosome 2P16.1-P15 Deletion Syndrome	High, narrow palate, High palate, Short stature, Cryptorchidism, Wide nasal bridge, Joint contrac...	OMIM:612513
Sarcoidosis	Abnormal nasal mucosa morphology, Increased T cell count, Uveitis, Tubulointerstitial nephritis, ...	ORPHA:797
Hypomyelination Neuropathy-Arthrogryposis Syndrome	Respiratory distress	ORPHA:2680
Diffuse Cutaneous Mastocytosis	Gastrointestinal hemorrhage, Abdominal pain, Pruritus, Abnormality of the spleen, Wheezing, Malnu...	ORPHA:79456
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome	Eunuchoid habitus, Decreased testicular size, Short stature, Abnormality of the thyroid gland, Ab...	ORPHA:2234
Polyarteritis Nodosa	Pericarditis, Subcutaneous nodule, Erythema, Skin ulcer, Weight loss	ORPHA:767
Xeroderma Pigmentosum, Complementation Group A	Entropion, Hypermelanotic macule, Keratitis, Conjunctivitis, Dermal atrophy, Verrucous epidermal ...	OMIM:278700
Rett Syndrome	Apnea, Intermittent hyperventilation, Cachexia, Abnormality of the dentition, Short stature, Kyph...	OMIM:312750
Nodular Non-Suppurative Panniculitis	Aplasia/Hypoplasia of the skin, Subcutaneous nodule, Erythema, Weight loss, Panniculitis, Inflamm...	ORPHA:33577
Ramos-Arroyo Syndrome	Respiratory distress, Sparse scalp hair, Decreased body weight, Severe short stature, Aganglionic...	ORPHA:1051
Idiopathic Localized Lipodystrophy	Reduced subcutaneous adipose tissue, Inflammatory abnormality of the skin, Lipoatrophy, Absence o...	ORPHA:90158
Kdm5C-Related Syndromic X-Linked Intellectual Disability	Multiple cafe-au-lait spots, Patchy alopecia, High palate	ORPHA:85279
Lymphedema-Distichiasis Syndrome	Recurrent urinary tract infections, Cataract, Recurrent skin infections, Ectropion, Diabetes mell...	ORPHA:33001
Autosomal Recessive Cutis Laxa Type 2, Classic Type	Inguinal hernia, Congenital hip dislocation, Lipodystrophy, Thick hair, Delayed closure of the an...	ORPHA:357074
Agammaglobulinemia 2, Autosomal Recessive	Recurrent respiratory infections, Recurrent pneumonia, Abnormal T cell morphology, Recurrent bact...	OMIM:613500
Congenital Laryngomalacia	Laryngomalacia, Non-midline cleft lip, Cleft palate	ORPHA:2373
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion	Respiratory distress, Ptosis, Telecanthus, Prominent metopic ridge, Apnea, Hypoventilation, Tente...	ORPHA:314655
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Cachexia, Diarrhea, Distal arthrogryposis, Vomiting, Decreased liver function, Exertional dyspnea	ORPHA:42
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii	Recurrent respiratory infections, Tracheal stenosis, Precocious puberty, Disproportionate short s...	ORPHA:2637
Oocyte/Zygote/Embryo Maturation Arrest 10	Female infertility	OMIM:619176
Classical-Like Ehlers-Danlos Syndrome Type 2	Joint dislocation, Thoracic scoliosis, Widened atrophic scar, Knee dislocation, Shoulder dislocat...	ORPHA:536532
Emphysema, Congenital Lobar	Respiratory distress	OMIM:130710
Dyskeratosis Congenita, Autosomal Dominant 6	Oral leukoplakia, Esophageal stenosis, Nail dystrophy	OMIM:616553
Immunodeficiency 105	Impaired lymphocyte transformation with phytohemagglutinin, Pancytopenia, Skin rash, Hepatospleno...	OMIM:619924
Adams-Oliver Syndrome 2	Aplasia cutis congenita, Alopecia, Low anterior hairline, Small nail	OMIM:614219
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Oral ulcer, Sepsis, Leukopenia, Hypoplasia of the thymus, High palate, Otitis media, Neutropenia,...	OMIM:612541
Alstrom Syndrome	Chronic active hepatitis, Decreased response to growth hormone stimulation test, Gingivitis, Tubu...	OMIM:203800
Neurodevelopmental Disorder With Speech Delay And Variable Ocular Anomalies	Sparse hair, Sparse eyebrow	OMIM:619989
Hemochromatosis, Type 1	Arthropathy, Alopecia, Diabetes mellitus, Hypogonadotropic hypogonadism, Abdominal pain, Splenome...	OMIM:235200
Noonan Syndrome 5	Curly hair, Epicanthus, Short stature, Large for gestational age, Sparse eyebrow, Cryptorchidism,...	OMIM:611553
Pulmonary Non-Tuberculous Mycobacterial Infection	Respiratory distress, Crackles, Mycobacterium abscessus abscessus infection, Dyspnea, Diarrhea, C...	ORPHA:411703
Chronic Beryllium Disease	Pharyngitis, Lymphocytic interstitial pneumonia, Dyspnea, Abnormality on pulmonary function testi...	ORPHA:133
Melkersson-Rosenthal Syndrome	Furrowed tongue	OMIM:155900
Cowden Syndrome 1	Colonic diverticula, Hyperthyroidism, Cataract, Kyphosis, Narrow mouth, Thyroiditis, Palmoplantar...	OMIM:158350
Diaphanospondylodysostosis	Delayed vertebral ossification, Respiratory distress, Epicanthus, Absent in utero ossification of...	OMIM:608022
Oocyte/Zygote/Embryo Maturation Arrest 13	Female infertility	OMIM:620154
Oocyte/Zygote/Embryo Maturation Arrest 8	Female infertility	OMIM:619009
Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation	Neonatal respiratory distress, Cataract, Protruding tongue, Recurrent viral infections, Low anter...	OMIM:618797
Chromosome 5P13 Duplication Syndrome	Epicanthus, Small for gestational age, Craniosynostosis, Blepharophimosis, Wide nasal bridge, Low...	OMIM:613174
Oocyte/Zygote/Embryo Maturation Arrest 12	Female infertility	OMIM:619697
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome	Short stature, Cachexia	ORPHA:1144
Pelizaeus-Merzbacher Disease	Short stature, Congenital laryngeal stridor, Scoliosis, Dysphagia, Failure to thrive	OMIM:312080
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome	Absent eyebrow, Inguinal hernia, Alopecia, Sparse eyelashes, Sparse scalp hair, Recurrent ear inf...	ORPHA:544488
Revesz Syndrome	Nail pits, Fine hair, Nail dystrophy, Sparse hair, Oral leukoplakia, Ridged fingernail	OMIM:268130
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome	Esophageal neoplasm, Palmoplantar keratoderma, Abnormal large intestine morphology, Weight loss	ORPHA:2198
Eosinophilic Fasciitis	Macule, Fasciitis, Myositis, Subcutaneous nodule, Weight loss, Arthritis, Cellulitis	ORPHA:3165
Bronchopulmonary Dysplasia	Respiratory distress, Central apnea, Respiratory failure requiring assisted ventilation, Small fo...	ORPHA:70589
Cockayne Syndrome	Dry hair, Feeding difficulties in infancy, Congenital contracture, Retinal arteriolar constrictio...	ORPHA:191
Autosomal Recessive Robinow Syndrome	Tented upper lip vermilion, Orofacial cleft, Downturned corners of mouth, Vertebral segmentation ...	ORPHA:1507
Immunodeficiency 21	Osteomyelitis, Aplastic anemia, Recurrent viral infections, B lymphocytopenia, Recurrent fungal i...	OMIM:614172
Rubinstein-Taybi Syndrome 1	Respiratory distress, Dental crowding, Premature thelarche, Feeding difficulties in infancy, High...	OMIM:180849
Smith-Magenis Syndrome	Everted upper lip vermilion, Short stature, Abnormality of the dentition, Abnormality of the thyr...	OMIM:182290
Buerger Disease	Skin ulcer, Hyperhidrosis	ORPHA:36258
Autoimmune Lymphoproliferative Syndrome, Type Iia	Autoimmune hemolytic anemia, Eosinophilia, Increased circulating IgA level, Autoimmune thrombocyt...	OMIM:603909
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	Villous atrophy, Recurrent herpes, T lymphocytopenia, Infectious encephalitis, Short stature, Aut...	ORPHA:391487
Autoimmune Polyendocrinopathy Type 1	Alopecia, Abnormal fingernail morphology, Hypopigmented skin patches	ORPHA:3453
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia	Macrocytic anemia, Pancytopenia, Thrombocytosis, Eczema, Anemia of inadequate production, Megalob...	OMIM:617780
Immunodeficiency 109 With Lymphoproliferation	Pancytopenia, Splenomegaly, Bronchiectasis, Persistent EBV viremia, Recurrent sinusitis, Absent c...	OMIM:620282
Schnitzler Syndrome	Macule, Splenomegaly, Leukocytosis, Increased circulating IgM level, Papule, Anemia	ORPHA:37748
Immunodeficiency 97 With Autoinflammation	Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Colitis, Elevated proportion of C...	OMIM:619802
Ichthyosis, Congenital, Autosomal Recessive 6	Parakeratosis, Epidermal acanthosis, Hypohidrosis, Hyperkeratosis, Palmoplantar keratoderma, Scal...	OMIM:612281
Aplasia Cutis Congenita	Aplasia cutis congenita over the scalp vertex, Skin ulcer, Congenital localized absence of skin	ORPHA:1114
Hypoglossia With Situs Inversus	Respiratory distress, Asplenia, Feeding difficulties in infancy, Malnutrition, Upper airway obstr...	OMIM:612776
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs	Respiratory distress, Large for gestational age, Feeding difficulties in infancy, Abdominal diste...	ORPHA:226313
Methylmalonic Aciduria And Homocystinuria, Cblf Type	Thin upper lip vermilion, Epicanthus, Pancytopenia, Skin rash, Small for gestational age, Short s...	OMIM:277380
Alport Syndrome	Cough, Dyspnea, Posterior subcapsular cataract, Abnormal corneal endothelium morphology, Dysphagi...	ORPHA:63
Leukodystrophy, Hypomyelinating, 24	Cataract, Severe short stature, Flexion contracture, B lymphocytopenia, Tongue fasciculations, Hy...	OMIM:619851
Lymphoproliferative Syndrome, X-Linked, 1	Pancytopenia, Aplastic anemia, Dysgammaglobulinemia, Reduced natural killer cell activity, Spleno...	OMIM:308240
Lead Poisoning	Anorexia, Abnormal T cell morphology, Tubulointerstitial nephritis, Vomiting, Decreased male libi...	ORPHA:330015
Agammaglobulinemia 8A, Autosomal Dominant	Recurrent otitis media, Post-vaccination polio, B lymphocytopenia, Recurrent infections	OMIM:616941
Antisynthetase Syndrome	Joint dislocation, Recurrent respiratory infections, Myositis, Skin rash, Pruritus, Myocarditis, ...	ORPHA:81
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies	Epicanthus, Exaggerated cupid's bow, Feeding difficulties, Wide mouth, Delayed eruption of perman...	OMIM:618506
Adams-Oliver Syndrome	Gastrointestinal hemorrhage, Alopecia, Cataract, Esophageal varix, Aplastic/hypoplastic toenail, ...	ORPHA:974
Gaucher Disease, Perinatal Lethal	Respiratory distress, Everted upper lip vermilion, Apnea, Splenomegaly, Hepatic failure, Short no...	OMIM:608013
Vici Syndrome	Albinism, Recurrent viral infections, Leukopenia, T lymphocytopenia, Abnormal thymus morphology, ...	OMIM:242840
Hamamy Syndrome	Microcytic anemia, High palate, Sparse hair, Abnormal number of hair whorls, Hypoparathyroidism, ...	OMIM:611174
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency	Respiratory distress, Respiratory failure requiring assisted ventilation, Nasogastric tube feedin...	ORPHA:254864
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome	Alopecia, Coarse hair, Brittle hair, Nail dystrophy	ORPHA:75389
Generalized Pustular Psoriasis	Pustule, Overweight, Leukocytosis, Cheilitis, Uveitis, Obesity, Sepsis, Arthritis, Palmoplantar p...	ORPHA:247353
Acrokeratoelastoidosis Of Costa	Yellow papule, Epidermal acanthosis, Piezogenic pedal papules, Palmoplantar hyperkeratosis, Hyper...	ORPHA:38
Infant Botulism	Ptosis, Anorexia, Abdominal pain, Respiratory insufficiency due to muscle weakness, Dyspnea, Bowe...	ORPHA:178478
Dermatoosteolysis, Kirghizian Type	Aplasia/Hypoplasia of the skin, Keratitis, Osteoarthritis, Skin ulcer, Dystrophic fingernails, Ab...	ORPHA:1657
Intellectual Developmental Disorder, X-Linked, Syndromic, 35	Contracture of the proximal interphalangeal joint of the 2nd finger, Dental crowding, Feeding dif...	OMIM:300998
Allergic Bronchopulmonary Aspergillosis	Abnormal eosinophil morphology, Abnormal fingernail morphology, Asthma, Bronchiectasis, Respirato...	ORPHA:1164
Isaacs Syndrome	Hyperhidrosis, Weight loss	ORPHA:84142
Peeling Skin Syndrome 5	Hyperkeratosis, Epidermal acanthosis, Scaling skin	OMIM:617115
Premature Ovarian Failure 19	Secondary amenorrhea, Premature ovarian insufficiency, Irregular menstruation, Female infertility	OMIM:619245
Bresek Syndrome	Decreased testicular size, Alopecia, Aganglionic megacolon, Cryptorchidism, Hemivertebrae, Cleft ...	ORPHA:85284
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy	Cachexia	ORPHA:1216
Myopathic Ehlers-Danlos Syndrome	Failure to thrive, Multiple joint contractures, Foot joint contracture, Shoulder flexion contract...	ORPHA:536516
Hydatidiform Mole, Recurrent, 3	Female infertility	OMIM:618431
Hydatidiform Mole, Recurrent, 4	Female infertility	OMIM:618432
Peeling Skin Syndrome 4	Epidermal acanthosis, Hyperkeratosis, Palmoplantar keratoderma, Scaling skin, Nail dystrophy, Ort...	OMIM:607936
Short Chain Acyl-Coa Dehydrogenase Deficiency	Respiratory distress, Intrauterine growth retardation, Failure to thrive, Feeding difficulties	ORPHA:26792
Nicolaides-Baraitser Syndrome	Dry hair, Enlarged joints, Short lingual frenulum, High, narrow palate, Low anterior hairline, Wi...	OMIM:601358
Cenani-Lenz Syndrome	Ectropion, High, narrow palate, Abnormal form of the vertebral bodies, Short philtrum, Absent fin...	ORPHA:3258
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome	Telecanthus, Alopecia, Conical tooth, Abnormality of the dentition, Cryptorchidism, Fine hair, Up...	ORPHA:228390
Vitamin D-Dependent Rickets, Type 2A	Delayed eruption of teeth, Epicanthus, Enlargement of the ankles, Carious teeth, Enlargement of t...	OMIM:277440
Basel-Vanagaite-Smirin-Yosef Syndrome	Epicanthus, Cataract, Inguinal hernia, Tented upper lip vermilion, Kyphosis, Recurrent pneumonia,...	OMIM:616449
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence	Respiratory distress, Telecanthus, Neonatal respiratory distress, Tracheomalacia, Tracheal stenos...	OMIM:217980
Spinocerebellar Ataxia 48	Cachexia, Dysphagia	OMIM:618093
Fusariosis	Fasciitis, Sinusitis, Myositis, Abnormality of the spleen, Paronychia, Neutropenia, Brain abscess...	ORPHA:228119
Cervical Hypertrichosis-Peripheral Neuropathy Syndrome	Osteomyelitis, Generalized hirsutism, Skin ulcer	ORPHA:2218
Immunodeficiency 26 With Or Without Neurologic Abnormalities	Thin upper lip vermilion, Wide nasal bridge, T lymphocytopenia, B lymphocytopenia, Recurrent apht...	OMIM:615966
Mandibuloacral Dysplasia With Type A Lipodystrophy	Abnormal eyebrow morphology, Alopecia, Absent eyelashes, Lack of skin elasticity, Breast aplasia,...	ORPHA:90153
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin	Dental crowding, Hiatus hernia, Persistence of primary teeth, Overweight, Recurrent pneumonia, Re...	OMIM:619769
Intellectual Developmental Disorder, Autosomal Dominant 65	Prominent metopic ridge, Tented upper lip vermilion, Synophrys, Wide nasal bridge, Low posterior ...	OMIM:619320
Androgen Insensitivity Syndrome	Sparse pubic hair, Absent facial hair, Sparse axillary hair	OMIM:300068
Neurodevelopmental Disorder With Spastic Quadriplegia And Brain Abnormalities With Or Without Seizures	Respiratory distress, Joint contracture, Kyphoscoliosis	OMIM:617977
Inflammatory Bowel Disease (Crohn Disease) 1	Intestinal obstruction, Ulcerative colitis, Weight loss, Growth delay, Inflammation of the large ...	OMIM:266600
Juvenile Polyposis Of Infancy	Refractory anemia, Gastrointestinal hemorrhage, Subcutaneous lipoma, Short stature, Cachexia, Abd...	ORPHA:79076
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted	Respiratory distress, Smooth philtrum, Recurrent respiratory infections, Cataract, Short stature,...	OMIM:300968
Trichorhinophalangeal Syndrome, Type I	Osteoarthritis, Deep philtrum, Sparse hair, Microdontia, Short stature, Thin nail, Hyperlordosis,...	OMIM:190350
Urban-Rogers-Meyer Syndrome	Increased circulating IgE level	ORPHA:3409
Muscular Hypertonia, Lethal	Respiratory distress, Umbilical hernia, Pneumonia	OMIM:254120
Chronic Mucocutaneous Candidiasis	Skin rash, Abnormal fingernail morphology, Abnormal dental enamel morphology, Erythema, Cheilitis...	ORPHA:1334
Alg12-Cdg	Sepsis, Short philtrum, Gastroesophageal reflux, Recurrent ear infections, Recurrent pharyngitis,...	ORPHA:79324
Hyperprolactinemia	Female infertility, Menorrhagia, Oligomenorrhea, Increased circulating prolactin concentration	OMIM:615555
Cardiofaciocutaneous Syndrome	Brittle hair, Feeding difficulties in infancy, High palate, Sparse hair, Dystrophic fingernails, ...	ORPHA:1340
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne	Acne, Elbow flexion contracture, Pyoderma gangrenosum, Sterile arthritis, Knee flexion contractur...	OMIM:604416
Adiposis Dolorosa	Sparse axillary hair, Sparse pubic hair, Subcutaneous nodule, Xerostomia, Dry skin	ORPHA:36397
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism	Sparse hair, Dry skin	OMIM:268020
Cutis Laxa, Autosomal Recessive, Type Iiia	Wide cranial sutures, Congenital hip dislocation, Cataract, Inguinal hernia, Short stature, Crypt...	OMIM:219150
Gm1 Gangliosidosis	Abnormal form of the vertebral bodies, Gastroesophageal reflux, Aspiration pneumonia, Cherry red ...	ORPHA:354
Sepsis In Premature Infants	Abnormal mucociliary clearance, Gastrointestinal dysmotility, Vomiting, Neutropenia, Meningitis, ...	ORPHA:90051
Mucopolysaccharidosis, Type Vii	Spatulate ribs, Flexion contracture, Coarse hair, Widely spaced teeth, Anterior beaking of lumbar...	OMIM:253220
Reynolds Syndrome	Skin rash, Abnormal gastric mucosa morphology, Xerostomia, Skin ulcer, Arthritis, Keratoconjuncti...	ORPHA:779
Joubert Syndrome 37	Prominent metopic ridge, Lumbar hyperlordosis, Short stature, Cryptorchidism, Wide nasal bridge, ...	OMIM:619185
X-Linked Centronuclear Myopathy	Respiratory distress, Respiratory failure requiring assisted ventilation, Recurrent respiratory i...	ORPHA:596
Stickler Syndrome	Joint dislocation, Feeding difficulties in infancy, Osteoarthritis, Uveitis, Abnormal form of the...	ORPHA:828
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia	Foot osteomyelitis, Acral ulceration, Skin ulcer	ORPHA:139578
Macrocephaly/Autism Syndrome	Epicanthus, Large for gestational age, Splenomegaly, Obesity, Recurrent infections, Hydrocele tes...	OMIM:605309
Noonan Syndrome 12	11 pairs of ribs, Decreased response to growth hormone stimulation test, Feeding difficulties in ...	OMIM:618624
Xeroderma Pigmentosum, Complementation Group D	Cataract, Entropion, Keratitis, Keratoconjunctivitis sicca, Conjunctivitis, Dermal atrophy, Corne...	OMIM:278730
Nijmegen Breakage Syndrome	Conjunctival telangiectasia, Sinusitis, Long nose, Deep philtrum, T lymphocytopenia, Premature ov...	OMIM:251260
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Abnormal B cell count, Abnormal T cell count, Skin rash, Autoimmune hemolytic anemia, Eosinophili...	ORPHA:331206
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
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
Progeroid Short Stature With Pigmented Nevi	Irregular dentition, Thoracic scoliosis, Diabetes mellitus, Cataract, Allergic rhinitis, Lack of ...	OMIM:176690
Desbuquois Syndrome	Severe short stature, Genu recurvatum, Camptodactyly of finger, Abnormal eyelash morphology, Elbo...	ORPHA:1425
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia	Recurrent respiratory infections, B lymphocytopenia, Failure to thrive in infancy, Abnormally low...	OMIM:618987
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome	Sparse facial hair, Decreased serum estradiol, Alopecia, Streak ovary, Lumbar hyperlordosis, Spar...	ORPHA:2232
Giant Cell Arteritis	Pericarditis, Alopecia, Diabetes insipidus, Epistaxis, Anorexia, Abdominal pain, Meningitis, Recu...	ORPHA:397
Meier-Gorlin Syndrome 3	Patellar hypoplasia, Gastroesophageal reflux, Genu varum, Short stature, Cryptorchidism, Thick ve...	OMIM:613803
Immunodeficiency 54	Recurrent respiratory infections, Failure to thrive, Short stature, Recurrent viral infections, P...	OMIM:609981
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome	Premature ovarian insufficiency, Short stature, Kyphoscoliosis, Abnormality of the dentition, Syn...	ORPHA:391307
Autoinflammatory Syndrome, Familial, Behcet-Like 1	Anterior uveitis, Hemolytic anemia, Skin rash, Oral ulcer, Colitis, Polyarticular arthritis, Ilea...	OMIM:616744
Ectodermal Dysplasia 10B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive	Sparse hair, Sparse eyelashes, Periorbital wrinkles, Sparse eyebrow	OMIM:224900
Cerebroretinal Microangiopathy With Calcifications And Cysts 1	Short stature, Retinal telangiectasia, Postnatal growth retardation, Genu valgum, Anemia, Prematu...	OMIM:612199
Developmental And Epileptic Encephalopathy 30	Respiratory distress, Feeding difficulties	OMIM:616341
Microlissencephaly-Micromelia Syndrome	Hypoparathyroidism, 11 pairs of ribs, Respiratory distress, Palpebral edema, Generalized hypertri...	ORPHA:50810
Dyskeratosis Congenita, Autosomal Recessive 2	Oral leukoplakia, Nail dystrophy	OMIM:613987
Acute Promyelocytic Leukemia	Pancytopenia, Metrorrhagia, Epistaxis, Anorexia, Productive cough, Abdominal pain, Thrombocytopen...	ORPHA:520
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Lymphadenitis, Oral ulcer, Hemolytic anemia, Short stature, Abscess, Perianal abscess, Hepatosple...	OMIM:618935
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Recurrent viral infections, T lymphocytopenia, Recurrent abscess formation, Cough, Abnormal natur...	ORPHA:79124
Seckel Syndrome	Sparse scalp hair, Short stature, Abnormal dental enamel morphology, Craniosynostosis, Cachexia, ...	ORPHA:808
Premature Aging Syndrome, Penttinen Type	Hyperextensibility of the knee, Elevated circulating thyroid-stimulating hormone concentration, P...	OMIM:601812
Tetramelic Deficiencies, Ectodermal Dysplasia, Deformed Ears, And Other Abnormalities	Sparse hair, Hypoplastic nipples, Small nail	OMIM:273400
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia	Congenital hip dislocation, Decreased response to growth hormone stimulation test, Flexion contra...	OMIM:616007
Bullous Pemphigoid	Macule, Psoriasiform dermatitis, Eczema, Erythema, Weight loss	ORPHA:703
Pfapa Syndrome	Nausea and vomiting, Malabsorption, Abdominal pain, Splenomegaly, Recurrent pharyngitis, Weight l...	ORPHA:42642
Mandibuloacral Dysplasia With Type A Lipodystrophy	Dental crowding, Flexion contracture, High palate, Premature loss of teeth, Alopecia, Hypoplasia ...	OMIM:248370
Ebola Hemorrhagic Fever	Gastrointestinal hemorrhage, Pharyngitis, Acute pancreatitis, Maculopapular exanthema, Poor appet...	ORPHA:319218
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type	Smooth philtrum, Thin upper lip vermilion, Recurrent respiratory infections, Short stature, Diast...	OMIM:300534
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6	Respiratory distress, Paradoxical respiration, Plantar flexion contracture, Arthrogryposis-like h...	OMIM:620011
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome	Craniosynostosis, Cryptorchidism, Obesity, Radioulnar synostosis, Thin vermilion border, Laryngom...	ORPHA:171839
Congenital Enterovirus Infection	Respiratory distress, Abnormal macrophage morphology, Skin rash, Myocarditis, Leukocytosis, Throm...	ORPHA:292
3-Methylglutaconic Aciduria, Type Viib	Respiratory distress, Cataract, Rhizomelia, Recurrent pneumonia, Flexion contracture, Feeding dif...	OMIM:616271
Idiopathic Hypereosinophilic Syndrome	Respiratory distress, Cholangitis, Pulmonary embolism, Feeding difficulties in infancy, Colitis, ...	ORPHA:3260
Hallermann-Streiff Syndrome	High, narrow palate, Uveitis, Glossoptosis, Rib exostoses, Sparse hair, Hypothyroidism, Alopecia,...	ORPHA:2108
Infantile Myofibromatosis	Intestinal obstruction, Abnormal hair morphology, Subcutaneous nodule, Tracheoesophageal fistula,...	ORPHA:2591
Eosinophilic Gastroenteritis	Eosinophilia, Allergic rhinitis, Malabsorption, Abdominal pain, Leukocytosis, Asthma, Diarrhea, A...	ORPHA:2070
Immunodeficiency 98 With Autoinflammation, X-Linked	Chronic oral candidiasis, Autoimmune hemolytic anemia, Pneumocystis jirovecii pneumonia, Splenome...	OMIM:301078
Rodrigues Blindness	Sparse hair, Fine hair	OMIM:268320
Intellectual Developmental Disorder, Autosomal Dominant 54	Apnea, Eczema, Dental crowding, Delayed eruption of primary teeth, Thin nail, Small for gestation...	OMIM:617799
Autoimmune Hypoparathyroidism	Abdominal symptom, Cataract, Autoimmune hypoparathyroidism, Dyspnea, Chronic mucocutaneous candid...	ORPHA:36913
Opitz Gbbb Syndrome	Abnormal nasopharynx morphology, Rectourethral fistula, High palate, Gastroesophageal reflux, Asp...	OMIM:300000
Oculocerebrocutaneous Syndrome	Skin tags, Alopecia, Aplasia/Hypoplasia of the skin, Abnormal fingernail morphology, Hypopigmente...	ORPHA:1647
Congenital Disorder Of Glycosylation, Type Iie	Smooth philtrum, Short stature, Protruding tongue, Splenomegaly, Neonatal asphyxia, Low anterior ...	OMIM:608779
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Hepatit...	ORPHA:444463
Slc35A1-Cdg	Respiratory distress, Pneumonia, Giant platelets, Hypoxemia, Neutropenia, Cellulitis, Abnormal pl...	ORPHA:238459
Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema	Respiratory distress, Tongue edema, Palpebral edema, Pharyngeal edema, Swollen lip, Pruritus, Lar...	ORPHA:100057
Congenital Disorder Of Glycosylation, Type Ix	Respiratory distress, Cryptorchidism, Feeding difficulties, Intrauterine growth retardation, Fail...	OMIM:615597
Stt3B-Cdg	Respiratory distress, Cryptorchidism, Feeding difficulties, Intrauterine growth retardation, Fail...	ORPHA:370924
Rothmund-Thomson Syndrome, Type 2	Congenital hip dislocation, Microcornea, Anteriorly placed anus, Premature graying of hair, High ...	OMIM:268400
Glass Syndrome	Inguinal hernia, Apnea, Dental crowding, Short stature, Conical tooth, Long nose, Narrow mouth, P...	OMIM:612313
Prader-Willi Syndrome Due To Translocation	Respiratory distress, Decreased response to growth hormone stimulation test, Anterior pituitary h...	ORPHA:177907
Bryant-Li-Bhoj Neurodevelopmental Syndrome 1	Tented upper lip vermilion, Deep philtrum, Flexion contracture, Low anterior hairline, Downturned...	OMIM:619720
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy	Respiratory distress, Kyphoscoliosis	OMIM:619099
Huntington Disease-Like 2	Weight loss	ORPHA:98934
Koolen-De Vries Syndrome Due To A Point Mutation	Joint dislocation, Decreased response to growth hormone stimulation test, Nasogastric tube feedin...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Joint dislocation, Decreased response to growth hormone stimulation test, Nasogastric tube feedin...	ORPHA:363958
Adult Idiopathic Neutropenia	Helicobacter pylori infection, Abnormal neutrophil count, Recurrent infections, Monocytosis, Recu...	ORPHA:2688
Hermansky-Pudlak Syndrome 2	Fair hair, Albinism, Periodontitis, Gastroesophageal reflux, Recurrent abscess formation, Neutrop...	OMIM:608233
Abnormal Hair, Joint Laxity, And Developmental Delay	Alopecia, Fragile nails, Small nail, Pili torti, Trichorrhexis nodosa, Sparse lateral eyebrow	OMIM:261990
Vulvovaginal Gingival Syndrome	Ridged nail, Parakeratosis, Epidermal acanthosis, Erythema, Skin erosion	ORPHA:83453
Chromosome 6Q24-Q25 Deletion Syndrome	Medial flaring of the eyebrow, Respiratory distress, Smooth philtrum, Thin upper lip vermilion, S...	OMIM:612863
Oculogastrointestinal Neurodevelopmental Syndrome	Unilateral ptosis, Short stature, Hemivertebrae, Anal atresia, Laryngeal cleft, Hirsutism	OMIM:619318
Neurodevelopmental Disorder With Spasticity And Poor Growth	Recurrent respiratory infections, Epicanthus, Tented upper lip vermilion, Short stature, High, na...	OMIM:618076
Sialuria	Thin upper lip vermilion, Epicanthus, Inguinal hernia, Splenomegaly, Synophrys, Hirsutism, Wide n...	OMIM:269921
Rhizomelic Limb Shortening With Dysmorphic Features	Rhizomelia, Wide nasal bridge, Obesity, Patellar dislocation, Laryngomalacia, Long philtrum, Down...	OMIM:618821
Oculodentodigital Dysplasia, Autosomal Recessive	Dental crowding, Long nose, Microcornea, Persistent pupillary membrane, Sparse hair, Hypoplasia o...	OMIM:257850
Nasopalpebral Lipoma-Coloboma Syndrome	Absent lacrimal punctum, Lipomas of eyelids, Telecanthus, Sparse eyebrow, Widow's peak, Upper eye...	OMIM:167730
Combined Cellular And Humoral Immune Defects With Granulomas	T lymphocytopenia, B lymphocytopenia, Recurrent respiratory infections	OMIM:233650
Myasthenic Syndrome, Congenital, 10	Respiratory insufficiency due to muscle weakness, Tongue atrophy, Reduced vital capacity, Ptosis	OMIM:254300
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency	Impaired lymphocyte transformation with phytohemagglutinin, Recurrent respiratory infections, Abs...	ORPHA:35078
Cartilage-Hair Hypoplasia	Abnormal form of the vertebral bodies, Neutropenia, Sparse hair, Abnormally ossified vertebrae, R...	ORPHA:175
T-Cell Immunodeficiency With Thymic Aplasia	Failure to thrive, Aplasia of the thymus, Recurrent viral infections, Recurrent bronchopulmonary ...	OMIM:242700
Developmental Delay, Hypotonia, And Impaired Language	Cryptorchidism, Recurrent pneumonia, Feeding difficulties, Astigmatism, Constipation, Gastroesoph...	OMIM:620012
Adult-Onset Still Disease	Pericarditis, Neutrophilia, Skin rash, Abdominal pain, Cartilage destruction, Myocarditis, Leukoc...	ORPHA:829
Xeroderma Pigmentosum, Complementation Group E	Entropion, Keratitis, Conjunctivitis, Dermal atrophy, Ectropion	OMIM:278740
Aggressive Systemic Mastocytosis	Gastrointestinal hemorrhage, Pancytopenia, Maculopapular exanthema, Anorexia, Malabsorption, Hype...	ORPHA:98850
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)	Colonic diverticula, Intestinal pseudo-obstruction, Gastroparesis, Cachexia, Malabsorption, Intes...	OMIM:603041
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency	Alopecia, Iridocyclitis, Ankle clonus, Hypogonadism, Type II diabetes mellitus, Oligomenorrhea, D...	ORPHA:412057
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans	Respiratory distress, Brain abscess, Central apnea, Lumbar hyperlordosis, Rhizomelia, Severe shor...	OMIM:616482
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities	11 pairs of ribs, Telecanthus, Precocious puberty, Cryptorchidism, Hirsutism, Wide nasal bridge, ...	OMIM:620073
Kagami-Ogata Syndrome	Omphalocele, Inguinal hernia, Kyphoscoliosis, Splenomegaly, Flexion contracture, Thin ribs, Laryn...	OMIM:608149
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy	Perianal abscess, Leukocytosis, Increased circulating IgE level, Increased circulating IgG level,...	OMIM:618213
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Atrophic gastritis, Psoriasiform dermatitis, Autoimmune hemolytic anemia, Eczema, Autoimmune thro...	OMIM:616100
Chanarin-Dorfman Syndrome	Alopecia	OMIM:275630
Leigh Syndrome	Alopecia, Cataract, Multiple joint contractures, Eczema, Gastrointestinal dysmotility, Hepatic fa...	ORPHA:506
Hermansky-Pudlak Syndrome	Gastrointestinal hemorrhage, Hypopigmentation of hair, Cataract, Menometrorrhagia, Abnormal denta...	ORPHA:79430
Poems Syndrome	Diabetes mellitus, Lipodystrophy, Abnormality of the endocrine system, Hypothyroidism, Respirator...	ORPHA:2905
Blepharophimosis, Ptosis, And Epicanthus Inversus	Telecanthus, Premature ovarian insufficiency, Highly arched eyebrow, Female infertility, Sparse p...	OMIM:110100
Kaposi Sarcoma	Macule, Skin rash, Hypermelanotic macule, Skin nodule, Weight loss, Skin plaque, Papule	ORPHA:33276
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome	Nonproductive cough, Dyspnea, Chronic pulmonary obstruction, Wheezing, Bronchiectasis, Inspirator...	ORPHA:79127
Lymphedema-Distichiasis Syndrome	Ectropion, Yellow nails, Cleft palate, Distichiasis, Conjunctivitis, Recurrent corneal erosions, ...	OMIM:153400
Gapo Syndrome	Keratoconus, Delayed eruption of teeth, Alopecia, Palpebral edema, Sparse eyelashes, Short statur...	ORPHA:2067
Hereditary Folate Malabsorption	Nausea and vomiting, Recurrent respiratory infections, Pancytopenia, Recurrent urinary tract infe...	ORPHA:90045
Mucolipidosis Ii Alpha/Beta	Brittle hair, Sparse hair, Megalocornea, Progressive alveolar ridge hypertropy, Thoracolumbar kyp...	OMIM:252500
Bartsocas-Papas Syndrome 1	Skin tags, Cicatricial lagophthalmos, Flexion contracture, Ankyloblepharon, Pterygium, Absent eye...	OMIM:263650
Kniest Dysplasia	Respiratory distress, Hip contracture, Inguinal hernia, Cataract, Enlarged joints, Rhizomelia, Tr...	OMIM:156550
Tarp Syndrome	Failure to thrive, Extramedullary hematopoiesis, Apnea, Abnormal hair pattern, Cryptorchidism, Pi...	ORPHA:2886
Degcags Syndrome	Oral-pharyngeal dysphagia, Synophrys, Low anterior hairline, Premature graying of hair, Leukopeni...	OMIM:619488
Leukodystrophy, Hypomyelinating, 26, With Chondrodysplasia	Short stature, Elbow dislocation, Pierre-Robin sequence, Advanced ossification of carpal bones, C...	OMIM:620269
Marfanoid-Progeroid-Lipodystrophy Syndrome	Reduced subcutaneous adipose tissue, Lipoatrophy, Ectopia lentis, High, narrow palate, Absence of...	OMIM:616914
Cholestasis, Progressive Familial Intrahepatic, 1	Short stature, Epistaxis, Pruritus, Splenomegaly, Wheezing, Diarrhea, Fat malabsorption, Failure ...	OMIM:211600
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome	Eczema, Abnormality of the endocrine system, Dacryocystitis, Cryptorchidism, Pseudohypoparathyroi...	ORPHA:464288
Odontochondrodysplasia 1	Respiratory distress, Delayed eruption of teeth, Biconvex vertebral bodies, Recurrent respiratory...	OMIM:184260
Kyphoscoliosis-Lateral Tongue Atrophy-Hereditary Spastic Paraplegia Syndrome	Tongue atrophy, Dysphagia, Kyphoscoliosis, Knee flexion contracture	ORPHA:496689
Hallermann-Streiff Syndrome	Selective tooth agenesis, High, narrow palate, High palate, Sparse hair, Iris coloboma, Hyperlord...	OMIM:234100
Immunodeficiency 27A	Increased inflammatory response, Abnormal bronchus physiology, Pneumonia, Anorexia, Splenomegaly,...	OMIM:209950
Robin Sequence-Oligodactyly Syndrome	Glossoptosis, Abnormality of the dentition, Cleft palate, Abnormal form of the vertebral bodies	ORPHA:3104
Xfe Progeroid Syndrome	Severe short stature, Premature ovarian insufficiency, Cachexia, Absence of subcutaneous fat, Pre...	OMIM:610965
Insulin Autoimmune Syndrome	Arthralgia/arthritis, Weight loss	ORPHA:411593
Ravine Syndrome	Apnea, Anorexia, Abnormality of the larynx, Decreased body weight, Failure to thrive	ORPHA:99852
Bone Marrow Failure Syndrome 5	Short stature, Pure red cell aplasia, Erythroid hypoplasia, Growth delay, Hypogonadism, Nail dyst...	OMIM:618165
Boutonneuse Fever	Macule, Thrombocytopenia, Skin nodule, Increased circulating IgG level, Increased circulating IgM...	ORPHA:83313
Shukla-Vernon Syndrome	Sparse hair	OMIM:301029
Chromosome Xq27.3-Q28 Duplication Syndrome	Decreased testicular size, Small for gestational age, Short stature, Cryptorchidism, Increased ci...	OMIM:300869
Meier-Gorlin Syndrome 1	Respiratory distress, Genu recurvatum, Feeding difficulties in infancy, Flexion contracture, Hemi...	OMIM:224690
Leprosy	Urticarial plaque, Absent eyebrow, Alopecia, Hypopigmented macule, Skin nodule, Loss of eyelashes...	ORPHA:548
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy	Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Diabetes melli...	ORPHA:280365
De Sanctis-Cacchione Syndrome	Parakeratosis, Severe short stature, Entropion, Hypermelanotic macule, Keratitis, Conjunctivitis,...	OMIM:278800
Chondrodysplasia Punctata, Autosomal Dominant	Sparse hair, Hyperkeratosis with erythema, Coarse hair	OMIM:118650
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly	Respiratory distress, Telecanthus, Short stature, Carious teeth, Wide nasal bridge, Flat acetabul...	OMIM:617102
Camurati-Engelmann Disease	Delayed eruption of teeth, Cachexia, Hyperlordosis, Carious teeth, Splenomegaly, Kyphosis, Abnorm...	ORPHA:1328
Epidermolysis Bullosa, Junctional 2C, Laryngoonychocutaneous	Symblepharon, Recurrent loss of toenails and fingernails, Skin ulcer, Nail dystrophy, Enamel hypo...	OMIM:245660
Pneumocystosis	Respiratory failure requiring assisted ventilation, Pneumocystis jirovecii pneumonia, Abnormal ne...	ORPHA:723
Chiari Malformation Type Ii	Feeding difficulties, Inspiratory stridor, Dysphagia	OMIM:207950
Ataxia-Telangiectasia	Conjunctival telangiectasia, Failure to thrive, Sinusitis, Diabetes mellitus, Female hypogonadism...	OMIM:208900
Buratti-Harel Syndrome	Epicanthus, Cryptorchidism, Velopharyngeal insufficiency, Recurrent pneumonia, Submucous cleft ha...	OMIM:619314
Congenital Disorder Of Glycosylation, Type Ih	Abdominal distention, Diarrhea, Cryptorchidism, Anemia, Protein-losing enteropathy, Vomiting, Dec...	OMIM:608104
Immunodeficiency 32B	Recurrent respiratory infections, Neutrophilia, Sinusitis, Pneumonia, Eosinophilia, Thrombocytope...	OMIM:226990
Combined Oxidative Phosphorylation Deficiency 30	Respiratory distress, Feeding difficulties, Gastroesophageal reflux, Decreased liver function, Fa...	OMIM:616974
Congenital Erythropoietic Porphyria	Anisocytosis, Scarring alopecia of scalp, Leukopenia, Erythroid hyperplasia, Hemolytic anemia, Re...	ORPHA:79277
Erythrokeratodermia Variabilis Et Progressiva 3	Epidermal acanthosis, Erythema, Leukonychia, Hyperkeratosis, Palmoplantar keratoderma, Orthokerat...	OMIM:617525
White-Sutton Syndrome	Congenital diaphragmatic hernia, Downturned corners of mouth, High palate, Short philtrum, Gastro...	OMIM:616364
Crimean-Congo Hemorrhagic Fever	Anorexia, Leukopenia, Conjunctivitis, Cholecystitis, Morbilliform rash, Neutrophilia, Abdominal p...	ORPHA:99827
Short Stature, Microcephaly, And Endocrine Dysfunction	Inguinal hernia, Diabetes mellitus, Cataract, Short stature, Long nose, Cryptorchidism, Truncal o...	OMIM:616541
Kikuchi-Fujimoto Disease	Alopecia, Skin rash, Palpebral edema, Anorexia, Pustule, Myocarditis, Thrombocytopenia, Splenomeg...	ORPHA:50918
Schinzel-Giedion Syndrome	Respiratory distress, Abnormality of the gingiva, Anteriorly placed anus, High palate, Short phil...	ORPHA:798
Undifferentiated Pleomorphic Sarcoma	Weight loss	ORPHA:2023
Immunodeficiency 40	Rectal fistula, Severe varicella zoster infection, Recurrent pneumonia, Chronic diarrhea, Eosinop...	OMIM:616433
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome	Premature ovarian insufficiency, Short stature, Female infertility, Reduced forced vital capacity...	OMIM:619518
Proteus Syndrome	Central heterochromia, Pulmonary embolism, Neoplasm of the thymus, Abnormal form of the vertebral...	ORPHA:744
De Barsy Syndrome	Congenital hip dislocation, High palate, Sparse hair, Emphysema, Short stature, Cryptorchidism, N...	ORPHA:2962
Erythermalgia, Primary	Keratoconjunctivitis sicca, Xerostomia, Hyperhidrosis	OMIM:133020
Coenzyme Q10 Deficiency, Primary, 8	Respiratory distress, Small for gestational age, Postnatal growth retardation, Flexion contractur...	OMIM:616733
Bartsocas-Papas Syndrome	Median cleft lip, Corneal opacity, Alopecia totalis, Hypoplastic toenails, Ankyloblepharon, Cleft...	ORPHA:1234
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement	Dental crowding, Feeding difficulties in infancy, Nasogastric tube feeding in infancy, High palat...	ORPHA:251028
Pleural Mesothelioma	Respiratory distress, Dyspnea, Abnormal respiratory system physiology, Dysphagia, Weight loss, Co...	ORPHA:50251
Immunodeficiency 92	Recurrent oral herpes, Osteomyelitis, Pneumonia, Cholangitis, Persistent CMV viremia, Leukocytosi...	OMIM:619652
Fryns-Smeets-Thiry Syndrome	Short stature, Cachexia, Thick lower lip vermilion, Patellar aplasia, Hip dislocation, Wide mouth...	ORPHA:2058
Cryoglobulinemic Vasculitis	Viral hepatitis, Skin ulcer, Arthritis, Keratoconjunctivitis sicca, Petechiae, Purpura	ORPHA:91138
Autosomal Dominant Robinow Syndrome	High, narrow palate, Abnormality of the gingiva, Hemivertebrae, Abnormal form of the vertebral bo...	ORPHA:3107
Methylmalonate Semialdehyde Dehydrogenase Deficiency	Epicanthus, Tented upper lip vermilion, Cataract, Feeding difficulties, High palate, Short philtr...	OMIM:614105
Treacher-Collins Syndrome	Low anterior hairline, Glossoptosis, Eyelid coloboma, Hypoplasia of the thymus, High palate, Iris...	ORPHA:861
Borjeson-Forssman-Lehmann Syndrome	Decreased testicular size, Cataract, Short stature, Feeding difficulties in infancy, Cryptorchidi...	ORPHA:127
Microcephaly 26, Primary, Autosomal Dominant	Short stature, Protruding tongue, Recurrent pneumonia, Prominent eyelashes, Gingival overgrowth, ...	OMIM:619179
Immunodeficiency 22	Abscess, Thrombocytopenia, Decreased circulating total IgM, Decreased circulating IgE, Decreased ...	OMIM:615758
Mirage Syndrome	Adrenal hypoplasia, Sepsis, Leukopenia, Gastroesophageal reflux, Aspiration pneumonia, Achalasia,...	OMIM:617053
Immunodeficiency 91 And Hyperinflammation	Acute hepatic failure, Neutrophilia, Membranoproliferative glomerulonephritis, Maculopapular exan...	OMIM:619644
Bronchial Neuroendocrine Tumor	Pneumonia, Elevated circulating growth hormone concentration, Anorexia, Poor appetite, Nonproduct...	ORPHA:97287
Congenital Disorder Of Glycosylation, Type Iia	Macrodontia, Thoracolumbar kyphoscoliosis, Short stature, Protruding tongue, Diastema, Postnatal ...	OMIM:212066
Adnp Syndrome	Respiratory distress, Oral-pharyngeal dysphagia, Vomiting, Gastroesophageal reflux, Advanced erup...	ORPHA:404448
2Q37 Microdeletion Syndrome	Sparse scalp hair, Short stature, Eczema, Highly arched eyebrow, Congenital diaphragmatic hernia,...	ORPHA:1001
Mulibrey Nanism	Dental crowding, Corneal dystrophy, Short stature, Absent frontal sinuses, Enamel hypoplasia, Hyp...	OMIM:253250
Peripartum Cardiomyopathy	Orthopnea, Diabetes mellitus, Abnormality of thyroid physiology, Crackles, Abdominal pain, Myocar...	ORPHA:563
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome	Respiratory distress, Craniosynostosis, Cryptorchidism, Cleft palate, Narrow palate, Anteriorly p...	ORPHA:1555
Congenital Myopathy 22B, Severe Fetal	Respiratory distress, Thoracic scoliosis, Tented upper lip vermilion, Dental crowding, Synophrys,...	OMIM:620369
Bazex Syndrome	Parakeratosis, Yellow nails, Hyperkeratosis, Palmoplantar keratoderma, Scaling skin, Nail dystrop...	ORPHA:166113
X-Linked Creatine Transporter Deficiency	Aganglionic megacolon, Short stature, Cachexia, Ileus, Constipation, Open mouth, Ptosis	ORPHA:52503
Infantile Digital Fibromatosis	Hyperkeratosis, Skin nodule, Parakeratosis, Epidermal acanthosis	ORPHA:199267
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome	Thin upper lip vermilion, Epicanthus, Neonatal respiratory distress, Lacrimal duct stenosis, Inte...	ORPHA:457193
Pseudohypoparathyroidism Type 1C	Delayed eruption of teeth, Abdominal symptom, Cataract, Hypergonadotropic hypogonadism, Decreased...	ORPHA:79444
Pigmented Nodular Adrenocortical Disease, Primary, 4	Alopecia, Hirsutism	OMIM:615830
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Respiratory distress, Tubulointerstitial nephritis, Leukopenia, Vomiting, Neutropenia, Failure to...	OMIM:251000
Congenital Disorder Of Glycosylation, Type Ig	Respiratory distress, Thin upper lip vermilion, Epicanthus, Small for gestational age, Rhizomelia...	OMIM:607143
Nodular Lymphocyte Predominant Hodgkin Lymphoma	Hyperhidrosis, Weight loss	ORPHA:86893
Imerslund-Gräsbeck Syndrome	Reticulocytosis, Macrocytic anemia, Pancytopenia, Angular cheilitis, Poor appetite, Megaloblastic...	ORPHA:35858
Nasopalpebral Lipoma-Coloboma Syndrome	Lipomas of eyelids, Telecanthus, Cataract, Corneal opacity, Abnormal eyelash morphology, Sparse e...	ORPHA:2399
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1	Curly hair, Epicanthus, Inguinal hernia, Sparse scalp hair, Eczema, Short stature, Large for gest...	OMIM:607721
Ichthyosis, Congenital, Autosomal Recessive 14	Hyperkeratosis, Orthokeratotic hyperkeratosis, Erythema, Scaling skin	OMIM:617571
Dubowitz Syndrome	Abnormality of neutrophils, Hypoplastic toenails, Rectal prolapse, Low anterior hairline, High pa...	ORPHA:235
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome	Sparse eyelashes, Hyperconvex nail, Supernumerary nipple, Submucous cleft soft palate, Sparse eye...	ORPHA:1071
Hutchinson-Gilford Progeria Syndrome	Alopecia	OMIM:176670
Peroxisome Biogenesis Disorder 8A (Zellweger)	Feeding difficulties in infancy, Glossoptosis, Cataract	OMIM:614876
Immunodeficiency 68	Recurrent skin infections, Abscess, Lymphadenitis, Sepsis, T lymphocytopenia, B lymphocytopenia, ...	OMIM:612260
Agnathia-Otocephaly Complex	Respiratory distress, Laryngeal hypoplasia, Aglossia, Cleft palate, Hypoplasia of the epiglottis,...	OMIM:202650
Bannayan-Riley-Ruvalcaba Syndrome	Neoplasm of the adrenal cortex, Intestinal polyposis, Short stature, Abnormal large intestine mor...	ORPHA:109
Cutis Laxa, Autosomal Recessive, Type Iiib	Pyloric stenosis, Cutis laxa, Fine hair, Excessive wrinkled skin, Thin skin, Sparse hair, Dermal ...	OMIM:614438
Schimmelpenning-Feuerstein-Mims Syndrome	Linear nevus sebaceous, Alopecia, Nevus sebaceous, Nevus	OMIM:163200
Rabson-Mendenhall Syndrome	Dental crowding, Onychauxis, Fasting hyperinsulinemia, Low anterior hairline, Premature graying o...	ORPHA:769
X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome	Thin upper lip vermilion, Dental crowding, Ankle flexion contracture, Cryptorchidism, Knee flexio...	ORPHA:435938
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form	Flexion contracture, Gastroesophageal reflux, Constipation, Narrow mouth, Delayed puberty, Anemia...	ORPHA:89842
Methylmalonic Acidemia With Homocystinuria Type Cblf	Skin rash, Megaloblastic anemia, Cleft palate, Feeding difficulties, Growth delay, Recurrent infe...	ORPHA:79284
Icf Syndrome	Recurrent respiratory infections, Epicanthus, Short stature, Abnormality of neutrophils, Protrudi...	ORPHA:2268
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked	Respiratory distress, Brittle hair, Abnormal oral mucosa morphology, Conical tooth, Microdontia, ...	OMIM:305100
Crouzon Syndrome	Dental crowding, Sagittal craniosynostosis, Keratitis, High palate, Conjunctivitis, Lambdoidal cr...	OMIM:123500
Kagami-Ogata Syndrome	Omphalocele, Respiratory failure requiring assisted ventilation, Inguinal hernia, Pursed lips, Ky...	ORPHA:254519
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency	Aplasia/Hypoplasia of the skin, Thin skin, Skin ulcer, Purpura	ORPHA:743
Oculogastrointestinal Muscular Dystrophy	Spontaneous esophageal perforation, Intestinal pseudo-obstruction, Gastroparesis, Cachexia, Malab...	ORPHA:1876
Xeroderma Pigmentosum, Complementation Group C	Entropion, Keratitis, Conjunctivitis, Dermal atrophy, Ectropion	OMIM:278720
Primary Sjögren Syndrome	Normocytic anemia, Myositis, Chronic active hepatitis, Nonproductive cough, Xerostomia, Tubuloint...	ORPHA:289390
Diaphanospondylodysostosis	Respiratory distress, Missing ribs, Cleft palate, Absent or minimally ossified vertebral bodies, ...	ORPHA:66637
Lissencephaly Syndrome, Norman-Roberts Type	Respiratory distress, Wide nasal bridge, Feeding difficulties, Dysphagia, Intrauterine growth ret...	ORPHA:89844
Aplasia Cutis-Myopia Syndrome	Aplasia cutis congenita, Skin ulcer	ORPHA:1117
Combined Immunodeficiency-Enteropathy Spectrum	Omphalocele, Absent eyebrow, Autoimmune hemolytic anemia, Psoriasiform dermatitis, Intestinal mal...	ORPHA:436252
Wiedemann-Rautenstrauch Syndrome	Flexion contracture, Downturned corners of mouth, Hypoplasia of the thymus, Genu varum, Absent ey...	OMIM:264090
Pontocerebellar Hypoplasia, Type 1B	Tongue atrophy, Flexion contracture, Hip dislocation, Respiratory insufficiency, Feeding difficul...	OMIM:614678
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction	Respiratory distress, Recurrent respiratory infections, Neonatal respiratory distress, Decreased ...	OMIM:610978
Hartnup Disorder	Glossitis, Short stature	OMIM:234500
Coccidioidomycosis	Respiratory distress, Abnormality of the spleen, Cough, Morbilliform rash, Broad ribs, Abscess, A...	ORPHA:228123
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1	Abnormal nasopharynx morphology, Absence of Stensen duct, Decreased response to growth hormone st...	OMIM:129900
Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia	Juvenile myelomonocytic leukemia, Epicanthus, Short stature, Highly arched eyebrow, Postnatal gro...	OMIM:613563
Mandibuloacral Dysplasia With Type B Lipodystrophy	Alopecia, Abnormal hair morphology, Dermal atrophy, Nail dystrophy, Thin skin	ORPHA:90154
Mitochondrial Pyruvate Carrier Deficiency	Respiratory distress, Thin upper lip vermilion, Epicanthus, Long philtrum	OMIM:614741
Chondrodysplasia Punctata 2, X-Linked Dominant	Cataract, Sparse eyelashes, Rhizomelia, Kyphoscoliosis, Tracheal stenosis, Sparse eyebrow, Postna...	OMIM:302960
Holocarboxylase Synthetase Deficiency	Alopecia, Skin rash, Feeding difficulties in infancy, Tachypnea, Vomiting, Thrombocytopenia, Hype...	OMIM:253270
Epidermolytic Hyperkeratosis 1	Epidermal acanthosis, Scaling skin, Palmoplantar hyperkeratosis, Erythroderma	OMIM:113800
Myalgia-Eosinophilia Syndrome Associated With Tryptophan	Arthritis, Lymphopenia, Eosinophilia	ORPHA:2582
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion	Omphalocele, Epicanthus, Inguinal hernia, Exaggerated cupid's bow, Postnatal growth retardation, ...	ORPHA:254528
Hemochromatosis, Type 3	Hypogonadotropic hypogonadism, Arthritis, Impotence, Neutropenia, Lymphopenia, Anemia, Amenorrhea	OMIM:604250
Auriculocondylar Syndrome	Respiratory distress, Dental crowding, Hamartoma of tongue, Narrow mouth, Mandibular condyle apla...	ORPHA:137888
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome	Delayed eruption of teeth, Cataract, Short stature, Eczema, Thrombocytopenia, Recurrent upper res...	ORPHA:508542
Deafness-Lymphedema-Leukemia Syndrome	Nausea and vomiting, Recurrent respiratory infections, Abnormal neutrophil count, Splenomegaly, L...	ORPHA:3226
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome	Absent eyebrow, Inguinal hernia, Alopecia, Short stature, Craniosynostosis, Absent eyelashes, Abn...	ORPHA:166035
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2	Feeding difficulties in infancy, Deep philtrum, Coarse hair, High palate, Widely spaced teeth, Sp...	OMIM:617506
Tetrasomy 5P	Respiratory distress, Pericallosal lipoma, Epicanthus, Recurrent respiratory infections, Postnata...	ORPHA:3309
Chronic Hiccup	Weight loss	ORPHA:396
15Q14 Microdeletion Syndrome	Inguinal hernia, Acne, Short stature, Abnormality of the dentition, Kyphosis, Cleft palate, Short...	ORPHA:261190
Ectodermal Dysplasia/Short Stature Syndrome	Short stature, Epidermal acanthosis, Esophageal stricture, Hyperkeratosis, Palmoplantar keratoder...	OMIM:616029
Distal Deletion 19P	Keloids, Alopecia, Cleft palate, Thick eyebrow	ORPHA:96129
Keratoendotheliitis Fugax Hereditaria	Keratitis, Conjunctival hyperemia, Opacification of the corneal stroma	OMIM:148200
Free Sialic Acid Storage Disease	Failure to thrive in infancy, Skin ulcer, Iris hypopigmentation	ORPHA:834
Mu-Heavy Chain Disease	Splenomegaly, Abnormal B cell count, Increased circulating antibody level, Anemia	ORPHA:100024
African Trypanosomiasis	Conjunctivitis, Vomiting, Iritis, Nausea, Alopecia, Abnormality of the endocrine system, Hepatosp...	ORPHA:3385
Gapo Syndrome	High, narrow palate, Eruption failure, Sparse hair, Megalocornea, Keratoconus, Alopecia, Sparse e...	OMIM:230740
Trichorhinophalangeal Syndrome Type 1	Sparse eyelashes, Sparse eyebrow, Leukonychia, High palate, Sparse hair, Fragile nails	ORPHA:77258
Cerebellar-Facial-Dental Syndrome	Inguinal hernia, Cataract, Foot joint contracture, Severe short stature, Infancy onset short-trun...	ORPHA:444072
Hypocalcemic Vitamin D-Resistant Rickets	Joint dislocation, Hyperparathyroidism, Alopecia, Short stature, Premature loss of primary teeth,...	ORPHA:93160
Eosinophilic Granulomatosis With Polyangiitis	Nausea and vomiting, Increased inflammatory response, Myositis, Sinusitis, Skin rash, Eosinophili...	ORPHA:183
Congenital Disorder Of Glycosylation With Defective Fucosylation 1	Short stature, Kyphoscoliosis, Short nose, Hip dislocation, Wide nasal bridge, Feeding difficulti...	OMIM:618005
Bare Lymphocyte Syndrome, Type Ii	Viral hepatitis, Villous atrophy, Chronic lymphocytic meningitis, Recurrent urinary tract infecti...	OMIM:209920
Stuve-Wiedemann Syndrome 1	Enlarged joints, Apnea, Knee flexion contracture, Smooth tongue, Sparse hair, Pursed lips, Short ...	OMIM:601559
Hirschsprung Disease	Intestinal polyposis, Intestinal obstruction, Short stature, Failure to thrive in infancy, Agangl...	ORPHA:388
Pseudohypoparathyroidism Type 1A	Delayed eruption of teeth, Abdominal symptom, Cataract, Hypergonadotropic hypogonadism, Decreased...	ORPHA:79443
Severe Acute Respiratory Syndrome	Respiratory distress, Respiratory failure requiring assisted ventilation, Pharyngitis, Diabetes m...	ORPHA:140896
Drug Reaction With Eosinophilia And Systemic Symptoms	Acute hepatic failure, Skin rash, Eosinophilia, Pustule, Myocarditis, Cough, Dyspnea, Enanthema, ...	ORPHA:139402
Cleidocranial Dysplasia	Delayed eruption of teeth, Recurrent respiratory infections, Sinusitis, Wormian bones, Abnormal d...	ORPHA:1452
Reticular Dysgenesis	Congenital agranulocytosis, Sepsis, Leukopenia, Hypoplasia of the thymus, Lymphopenia	OMIM:267500
Pseudohypoparathyroidism Type 1B	Delayed eruption of teeth, Abdominal symptom, Cataract, Short stature, Decreased response to grow...	ORPHA:94089
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome	Hypogonadotropic hypogonadism, Short stature, Hyperlordosis, Abnormal rib morphology, Tracheoesop...	ORPHA:3068
Limited Cutaneous Systemic Sclerosis	Joint contracture of the hand, Foot joint contracture, Hypopigmented skin patches, Skin ulcer	ORPHA:220402
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Ileal atresia, Bloody diarrhea, Hypoplasia of the thymus, Psoriasiform dermatitis, Leukocytosis, ...	OMIM:243150
Idiopathic Pulmonary Hemosiderosis	Glomerulonephritis, Crackles, Dyspnea, Hepatosplenomegaly, Iron deficiency anemia, Restrictive ve...	ORPHA:99931
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor	Alopecia	OMIM:600785
Ruijs-Aalfs Syndrome	Thoracic kyphoscoliosis, Cataract, Lipodystrophy, Short stature, Posterior subcapsular cataract, ...	OMIM:616200
Qazi-Markouizos Syndrome	High, narrow palate, Abdominal distention, Cryptorchidism, Hypoplasia of teeth, Recurrent infecti...	ORPHA:3010
Myopathy And Diabetes Mellitus	Type I diabetes mellitus, Achilles tendon contracture, Respiratory distress	ORPHA:2596
Facioscapulohumeral Muscular Dystrophy 1	Restrictive ventilatory defect, Tongue atrophy, Dysphagia, Retinal telangiectasia	OMIM:158900
Hereditary Sensory And Autonomic Neuropathy Type 1	Hyperkeratosis, Osteomyelitis, Penetrating foot ulcers, Skin ulcer	ORPHA:36386
Lymphatic Filariasis	Glomerulonephritis, Ankle swelling, Orchitis, Lymphadenitis, Wheezing, Knee osteoarthritis, Epidi...	ORPHA:2035
Pseudomyxoma Peritonei	Inflammation of the large intestine, Intestinal obstruction, Hernia, Weight loss	ORPHA:26790
Autosomal Recessive Multiple Pterygium Syndrome	Multiple pterygia, Abnormal eyelid morphology, Orofacial cleft, Vertebral segmentation defect, Hi...	ORPHA:2990
Ciliary Dyskinesia, Primary, 47, And Lissencephaly	Respiratory distress, Recurrent respiratory infections, Abnormal mucociliary clearance, Bronchiec...	OMIM:619466
Psoriasis 2	Parakeratosis, Psoriasiform dermatitis, Epidermal acanthosis, Hyperkeratosis, Scaling skin	OMIM:602723
Focal Facial Dermal Dysplasia Type Iv	Abnormal epidermal morphology, Scarring, Cleft palate, Nevus	ORPHA:398189
Ciliary Dyskinesia, Primary, 2	Respiratory distress, Recurrent respiratory infections, Sinusitis, Nasal polyposis, Bronchiectasi...	OMIM:606763
Odontochondrodysplasia	Respiratory distress, Delayed eruption of teeth, Short stature, Platyspondyly, Scoliosis, Short n...	ORPHA:166272
Epilepsy, Progressive Myoclonic, 9	Microglossia, Scoliosis	OMIM:616540
Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome	Intestinal pseudo-obstruction, Lacrimal duct stenosis, Sparse eyebrow, Cryptorchidism, Constipati...	ORPHA:73246
Hepatoerythropoietic Porphyria	Facial hypertrichosis, Recurrent bacterial skin infections, Hemolytic anemia, Erythrodontia, Scar...	ORPHA:95159
Deafness-Genital Anomalies-Metacarpal And Metatarsal Synostosis Syndrome	Alopecia, Supernumerary nipple	ORPHA:3224
Hennekam Syndrome	Mild postnatal growth retardation, Abnormal oral mucosa morphology, Short philtrum, Abnormal dent...	ORPHA:2136
Larsen-Like Syndrome, Lethal Type	Joint dislocation, Multiple joint dislocation, Abnormal cartilage matrix, Respiratory insufficien...	OMIM:245650
Encephalocraniocutaneous Lipomatosis	Alopecia, Sclerocornea, Nevus psiloliparus, Hypoplasia of the iris, Eyelid coloboma, Lipoma, Limb...	OMIM:613001
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Absent frontal sinuses, Hemivertebrae, Widely-spaced maxillary central incisors, Gastroesophageal...	OMIM:301040
Marshall Syndrome	Cataract, Sparse eyelashes, Short stature, Ectopia lentis, Sparse eyebrow, Abnormality of the den...	ORPHA:560
Arthrogryposis, Distal, Type 5D	Tongue atrophy, Congenital hip dislocation, Short stature, Limited elbow movement, Highly arched ...	OMIM:615065
Thymic Neuroendocrine Tumor	Pituitary null cell adenoma, Pancreatic islet cell adenoma, Neoplasm of the thymus, Pituitary ade...	ORPHA:97289
Blepharophimosis With Facial And Genital Anomalies And Impaired Intellectual Development	Telecanthus, Small for gestational age, Supernumerary nipple, Feeding difficulties in infancy, Lo...	OMIM:604314
Immunodeficiency 82 With Systemic Inflammation	Villous atrophy, Decreased proportion of naive T cells, Anorexia, Oral ulcer, T lymphocytopenia, ...	OMIM:619381
Oculodentodigital Dysplasia	Brittle hair, Abnormal form of the vertebral bodies, Microcornea, Sparse hair, Abnormality of the...	ORPHA:2710
Focal Dermal Hypoplasia	Congenital diaphragmatic hernia, Subcutaneous nodule, Hypoplasia of the iris, Hernia, Abnormality...	ORPHA:2092
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly	Epicanthus, Short lingual frenulum, Short stature, Short uvula, Flat acetabular roof, Cleft palat...	OMIM:614091
Immunodeficiency, Common Variable, 13	Acute lymphoblastic leukemia, Recurrent bacterial infections, Pancytopenia, B lymphocytopenia	OMIM:616873
Cerebrooculofacioskeletal Syndrome 2	Cataract, Small for gestational age, Camptodactyly of finger, Kyphoscoliosis, Developmental catar...	OMIM:610756
Legionnaires Disease	Nausea and vomiting, Pericarditis, Anorexia, Abdominal pain, Cough, Myocarditis, Splenomegaly, Di...	ORPHA:549
Fibrodysplasia Ossificans Progressiva	Small cervical vertebral bodies, Progressive cervical vertebral spine fusion, Alopecia, Respirato...	OMIM:135100
Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits	Sparse hair, Hirsutism	OMIM:618087
Igg4-Related Submandibular Gland Disease	Eosinophilia, Increased circulating IgG4 level, Increased circulating IgE level, Increased circul...	ORPHA:449432
Ifap Syndrome 1, With Or Without Bresheck Syndrome	Atrichia, Periungual erythema, Neonatal death, Dystrophic fingernails, Absent eyebrow, Alopecia, ...	OMIM:308205
Isolated Congenital Alacrima	Keratitis, Corneal erosion, Lacrimal gland hypoplasia, Conjunctivitis, Lacrimal punctal atresia, ...	ORPHA:91416
Nablus Mask-Like Facial Syndrome	Low anterior hairline, High palate, Sparse hair, Highly arched eyebrow, Absent eyelashes, Sparse ...	OMIM:608156
Satoyoshi Syndrome	Abnormality of the knee, Short stature, Hyperlordosis, Nephrogenic diabetes insipidus, Abnormal h...	ORPHA:3130
Acute Monoblastic/Monocytic Leukemia	Acute monocytic leukemia, Ankle swelling, Anorexia, Leukocytosis, Central hypothyroidism, Weight ...	ORPHA:514
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease	Increased urinary cortisol level, Alopecia, Acne, Paradoxical increased cortisol secretion on dex...	ORPHA:189427
Congenital Pulmonary Lymphangiectasia	Respiratory distress, Splenomegaly, Chronic pulmonary obstruction, Growth delay, Gastroesophageal...	ORPHA:2414
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Spontaneous, recurrent epistaxis, Pancytopenia, Corneal opacity, Cachexia, Abnormality of the spl...	ORPHA:2072
Classic Hodgkin Lymphoma	Skin rash, Anorexia, Poor appetite, Pruritus, Splenomegaly, Respiratory insufficiency, Weight los...	ORPHA:391
Sjogren Syndrome	Tubulointerstitial nephritis, Keratoconjunctivitis sicca, Xerostomia, Rheumatoid arthritis	OMIM:270150
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects	Alopecia, Congenital hip dislocation, Parakeratosis, Short stature, Adrenal hypoplasia, Cleft upp...	OMIM:308050
Spondylocostal Dysostosis 1, Autosomal Recessive	Vertebral fusion, Recurrent respiratory infections, Severe short stature, Block vertebrae, Short ...	OMIM:277300
Bare Lymphocyte Syndrome, Type I	Ectopia lentis, Bronchiectasis, Skin ulcer, Chronic otitis media, Chronic sinusitis	OMIM:604571
Turner Syndrome Due To Structural X Chromosome Anomalies	Hypoplastic toenails, High, narrow palate, Gastrointestinal inflammation, Hyperconvex fingernails...	ORPHA:99413
Mosaic Monosomy X	Hypoplastic toenails, High, narrow palate, Gastrointestinal inflammation, Hyperconvex fingernails...	ORPHA:99228
Monosomy X	Hypoplastic toenails, High, narrow palate, Gastrointestinal inflammation, Hyperconvex fingernails...	ORPHA:99226
Turner Syndrome	Hypoplastic toenails, High, narrow palate, Gastrointestinal inflammation, Hyperconvex fingernails...	ORPHA:881
Female Infertility Due To Oocyte Meiotic Arrest	Abnormal spermatogenesis, Oocyte arrest at metaphase I, Abnormal meiosis, Female infertility	ORPHA:488191
Idiopathic Pulmonary Fibrosis	Crackles, Bronchiectasis, Gastroesophageal reflux, Cough, Exertional dyspnea	ORPHA:2032
Osteopathia Striata With Cranial Sclerosis	Apnea, Dental crowding, High palate, Gastroesophageal reflux, Broad ribs, Spina bifida occulta, B...	OMIM:300373
Synaptic Congenital Myasthenic Syndromes	Respiratory distress, Abnormality of the knee, Hypoventilation, Neonatal respiratory distress, Li...	ORPHA:98915
Lethal Recessive Chondrodysplasia	Respiratory distress, Macroglossia, Flared elbow metaphyses	ORPHA:1423
Lysinuric Protein Intolerance	Short stature, Nausea, Protein avoidance, Splenomegaly, Diarrhea, Malnutrition, Respiratory insuf...	OMIM:222700
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Peripheral retinal avascularization, Tented upper lip vermilion, Large for gestational age, Deep ...	ORPHA:96334
Microcephaly-Lymphedema-Chorioretinopathy Syndrome	Melanonychia, Epicanthus, Cataract, Abnormal nasolacrimal system morphology, Severe short stature...	ORPHA:2526
Juvenile Sialidosis Type 2	Inguinal hernia, Cataract, Corneal opacity, Protruding tongue, Gingival overgrowth, Abnormal form...	ORPHA:93399
Pomt1-Related Limb-Girdle Muscular Dystrophy R11	Respiratory distress, Lumbar hyperlordosis, Abdominal pain, Dyspnea, Scoliosis, Cough	ORPHA:86812
Doors Syndrome	Respiratory distress, Adrenal hyperplasia, Short lingual frenulum, Hemivertebrae, Low anterior ha...	ORPHA:79500
Juvenile Amyotrophic Lateral Sclerosis	Cachexia, Upper-limb joint contracture, Lower-limb joint contracture, Scoliosis, Dysphagia, Gastr...	ORPHA:300605
Scarf Syndrome	Epicanthus, Inguinal hernia, Craniosynostosis, Cryptorchidism, Abnormal form of the vertebral bod...	ORPHA:3134
Nipah Virus Disease	Respiratory distress, Nausea and vomiting, Anorexia, Recurrent pharyngitis, Cough, Infectious enc...	ORPHA:99825
Mandibuloacral Dysplasia Progeroid Syndrome	Short stature, Elevated hemoglobin A1c, Sparse eyebrow, Intra-oral hyperpigmentation, Narrow mout...	OMIM:619127
Craniolenticulosutural Dysplasia	Brittle hair, Coarse hair, High palate, Gastroesophageal reflux, Sparse hair, Bifid uvula, Short ...	OMIM:607812
Dubowitz Syndrome	Aplastic anemia, Feeding difficulties in infancy, Hypoplasia of the iris, High palate, Gastroesop...	OMIM:223370
Purine Nucleoside Phosphorylase Deficiency	Autoimmune hemolytic anemia, Sinusitis, Failure to thrive, Pneumonia, Pure red cell aplasia, Auto...	OMIM:613179
Plummer-Vinson Syndrome	Tongue atrophy, Poor appetite, Concave nail, Abdominal pain, Intra-oral hyperpigmentation, Cheili...	ORPHA:54028
Achondrogenesis, Type Ib	Inguinal hernia, Abdominal distention, Respiratory insufficiency, Stillbirth, Short ribs, Absent ...	OMIM:600972
Kindler Syndrome	Ridged nail, Anal stenosis, Esophageal stenosis, Spotty hypopigmentation, Palmoplantar hyperkerat...	OMIM:173650
Juvenile Dermatomyositis	Gastrointestinal hemorrhage, Myositis, Pericarditis, Palpebral edema, Skin rash, Alopecia, Abdomi...	ORPHA:93672
Shwachman-Diamond Syndrome	Normocytic anemia, Sinusitis, Aplastic anemia, Transient neutropenia, Decreased response to growt...	ORPHA:811
Systemic Sclerosis	Flexion contracture, Intestinal bleeding, Gastroesophageal reflux, Abnormal small intestine morph...	ORPHA:90291
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome	Large for gestational age, Palmoplantar hyperkeratosis, Short philtrum, Widely spaced teeth, Spar...	OMIM:280000
Smith-Lemli-Opitz Syndrome	Sclerocornea, Congenital diaphragmatic hernia, Feeding difficulties in infancy, Abnormal form of ...	ORPHA:818
Kinsship Syndrome	Synophrys, Downturned corners of mouth, Short philtrum, Widely spaced teeth, Gastroesophageal ref...	OMIM:619297
Hereditary Pulmonary Alveolar Proteinosis	Respiratory distress, Respiratory failure requiring assisted ventilation, Failure to thrive in in...	ORPHA:264675
22Q11.2 Deletion Syndrome	Abnormal eyelid morphology, Feeding difficulties in infancy, Hypoplasia of the thymus, Short phil...	ORPHA:567
Frontonasal Dysplasia 2	Telecanthus, Sparse eyelashes, Alopecia totalis, Craniosynostosis, Conical tooth, Sparse eyebrow,...	OMIM:613451
Trichorhinophalangeal Syndrome, Type Iii	Thin upper lip vermilion, Dental crowding, Short stature, Supernumerary tooth, Scoliosis, Long ph...	OMIM:190351
Jaberi-Elahi Syndrome	Cataract, Sparse eyelashes, Brittle hair, Sparse eyebrow, Kyphosis, Fine hair, Scoliosis, Sparse ...	OMIM:617988
Fucosidosis	Cervical platyspondyly, Recurrent respiratory infections, Absent/hypoplastic paranasal sinuses, L...	OMIM:230000
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2	Chronic gastritis, Recurrent respiratory infections, Skin rash, Abdominal pain, Perianal abscess,...	OMIM:301074
Polyendocrine-Polyneuropathy Syndrome	Decreased testicular size, Alopecia, Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia...	ORPHA:453533
Behçet Disease	Myositis, Anorexia, Pulmonary embolism, Oral ulcer, Infectious encephalitis, Meningitis, Acne, Ab...	ORPHA:117
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome	Premature ovarian insufficiency, Short stature, Camptodactyly of finger, Furrowed tongue, Truncal...	ORPHA:2928
Thrombocytopenia With Elevated Serum Iga And Renal Disease	Thrombocytopenia, Increased circulating IgA level	OMIM:314000
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome	Abnormal hair quantity, Lymphopenia, Malabsorption	ORPHA:1116
Meige Disease	Recurrent bacterial skin infections, Recurrent skin infections, Skin ulcer, Atypical scarring of ...	ORPHA:90186
Chime Syndrome	Epicanthus, Corneal opacity, Abnormal dental morphology, Abnormality of the dentition, Supernumer...	ORPHA:3474
Ciliary Dyskinesia, Primary, 37	Female infertility, Goiter, Wheezing, Bronchiectasis, Chronic rhinitis, Hypothyroidism, Rhinorrhea	OMIM:617577
Meier-Gorlin Syndrome 6	Recurrent respiratory infections, Entropion, Small for gestational age, Decreased response to gro...	OMIM:616835
Opitz-Kaveggia Syndrome	Multiple joint contractures, Dental crowding, Anteriorly placed anus, Sparse hair, Lumbar hyperlo...	OMIM:305450
Non-Functioning Paraganglioma	Episodic hyperhidrosis, Hypertensive retinopathy, Pallor, Weight loss	ORPHA:94080
Mosaic Variegated Aneuploidy Syndrome 2	Epicanthus, Small for gestational age, Decreased response to growth hormone stimulation test, Cra...	OMIM:614114
Oculodentodigital Dysplasia	Dry hair, Selective tooth agenesis, Uveitis, Microcornea, High palate, Joint contracture of the 5...	OMIM:164200
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis	Psoriasiform dermatitis, Acne, Osteomyelitis, Skin rash, Poor appetite, Pruritus, Abnormal sacroi...	ORPHA:324964
Normosmic Congenital Hypogonadotropic Hypogonadism	Male hypogonadism, Hypogonadotropic hypogonadism, Cryptorchidism, Absence of secondary sex charac...	ORPHA:432
Scarf Syndrome	Epicanthus, Inguinal hernia, Cryptorchidism, Low anterior hairline, Wide nasal bridge, Abnormal f...	OMIM:312830
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language	Thin upper lip vermilion, Feeding difficulties, Upslanted palpebral fissure, Lobulated tongue, Do...	OMIM:613443
Kasabach-Merritt Syndrome	Respiratory distress, Reticulocytosis, Abdominal pain, Thrombocytopenia, Abdominal distention, Hy...	ORPHA:2330
Otofaciocervical Syndrome 2, With T-Cell Deficiency	Preauricular pit, Periorbital dermoid cyst, Conjunctivitis, Lacrimal duct stenosis	OMIM:615560
Follicular Lymphoma	Skin nodule, Weight loss	ORPHA:545
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1	Decreased response to growth hormone stimulation test, Large for gestational age, Synophrys, Hemi...	OMIM:213980
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Alopecia, Hypoplasia of eyelid, Intestinal malrotation, Cleft soft palate, Short stature, Leukocy...	OMIM:619321
Papa Syndrome	Increased inflammatory response, Myositis, Acne, Pustule, Skin ulcer, Arthritis, Crohn's disease	ORPHA:69126
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative	Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Intestin...	OMIM:600802
Digeorge Syndrome	Sclerocornea, High, narrow palate, Parathyroid hypoplasia, Abnormal thymus morphology, Hypoplasia...	OMIM:188400
Orofaciodigital Syndrome Type 1	Brittle hair, Lobulated tongue, Coarse hair, High palate, Chronic otitis media, Sparse hair, Alop...	ORPHA:2750
Clark-Baraitser syndrome	Exaggerated median tongue furrow, Genu recurvatum, Kyphosis, Thick lower lip vermilion, Obesity, ...	OMIM:300602
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3	High, narrow palate, Deep philtrum, Low anterior hairline, Downturned corners of mouth, Short phi...	OMIM:619950
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency	Decreased circulating cortisol level, Premature pubarche, Acne, Alopecia, Premature thelarche, Is...	ORPHA:90795
Primary Intestinal Lymphangiectasia	Abdominal pain, Cryptococcal meningitis, Chronic diarrhea, Functional abnormality of the gastroin...	ORPHA:90362
Familial Keratoacanthoma	Papule, Hyperkeratosis, Subcutaneous nodule, Skin ulcer	ORPHA:493
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation	Intestinal pseudo-obstruction, Feeding difficulties in infancy, High, narrow palate, Gastrointest...	ORPHA:453504
Orofaciodigital Syndrome I	Dry hair, Lobulated tongue, High palate, Sparse hair, Alopecia, Short stature, Hamartoma of tongu...	OMIM:311200
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion	Intestinal pseudo-obstruction, Feeding difficulties in infancy, High, narrow palate, Gastrointest...	ORPHA:352665
Lacrimoauriculodentodigital Syndrome 2	Absent lacrimal punctum, Conjunctivitis, Lacrimal duct atresia, Lacrimal duct aplasia	OMIM:620192
Basel-Vanagaite-Smirin-Yosef Syndrome	Tented upper lip vermilion, High, narrow palate, Microcornea, Short philtrum, Exaggerated cupid's...	ORPHA:464738
Lacrimoauriculodentodigital Syndrome	Xerostomia, Orofacial cleft, Hypoplasia of the epiglottis, Microdontia, Abnormal salivary gland m...	ORPHA:2363
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type	Respiratory distress, Disc-like vertebral bodies, Rhizomelia, Ovoid vertebral bodies, Flat acetab...	OMIM:151210
Achalasia, Familial Esophageal	Keratoconjunctivitis sicca, Xerostomia, Rheumatoid arthritis	OMIM:200400
Trichohepatoenteric Syndrome 1	Villous atrophy, Brittle hair, Intractable diarrhea, Sparse hair, Intrauterine growth retardation...	OMIM:222470
Cranioectodermal Dysplasia 2	Unilateral ptosis, Cholangitis, Fused teeth, High palate, Widely spaced teeth, Microdontia, Spars...	OMIM:613610
Amoebiasis Due To Entamoeba Histolytica	Intestinal obstruction, Liver abscess, Acute colitis, Lung abscess, Abdominal pain, Dyspnea, Leuk...	ORPHA:67
Spinal muscular atrophy, type I, with congenital bone fractures	Respiratory distress, Congenital hip dislocation, Flexion contracture, High palate, Hypertrichosis	OMIM:271225
Bone Marrow Failure Syndrome 6	Squamous cell carcinoma of the tongue, Persistence of hemoglobin F, Increased mean corpuscular vo...	OMIM:618849
Hypomandibular Faciocranial Dysostosis	Recurrent respiratory infections, Aplasia/Hypoplasia of the tongue, Craniosynostosis, Laryngeal h...	ORPHA:1790
Athyreosis	Short stature, Thyroid agenesis, Abdominal distention, Feeding difficulties, Growth delay, Macrog...	ORPHA:95713
Codas Syndrome	Delayed eruption of teeth, Epicanthus, Congenital hip dislocation, Cataract, Abnormal dental enam...	ORPHA:1458
Myotonic Dystrophy 1	Respiratory distress, Cataract, Frontal balding, Feeding difficulties in infancy, Hypogonadism, D...	OMIM:160900
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures	Dental crowding, Rectal prolapse, High palate, Gastroesophageal reflux, Sparse hair, Frontal hirs...	OMIM:617157
9Q21.13 Microdeletion Syndrome	Craniosynostosis, Postnatal growth retardation, Cryptorchidism, Abnormal tongue morphology, Gastr...	ORPHA:531151
Ménétrier Disease	Gastrointestinal hemorrhage, Helicobacter pylori infection, Anorexia, Poor appetite, Nausea, Abno...	ORPHA:2494
Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies	Thin upper lip vermilion, Short stature, Corneal dystrophy, Upslanted palpebral fissure, Patchy a...	OMIM:617763
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome	Respiratory distress, Failure to thrive	ORPHA:91130
Orofaciodigital Syndrome Type 4	Joint dislocation, Abnormal oral mucosa morphology, Hypoplastic toenails, High, narrow palate, Ab...	ORPHA:2753
Insensitivity To Pain, Congenital, With Anhidrosis	Sparse scalp hair, Anhidrosis, Osteomyelitis, Keratitis, Corneal scarring, Nail dystrophy, Recurr...	OMIM:256800
Interstitial Pneumonitis, Desquamative, Familial	Respiratory distress, Tachypnea, Recurrent upper respiratory tract infections, Respiratory failur...	OMIM:263000
Ichthyosis, Annular Epidermolytic, 2	Erythema, Palmoplantar hyperkeratosis, Palmoplantar keratoderma, Scaling skin, Orthokeratosis, Sk...	OMIM:620148
Spondyloenchondrodysplasia With Immune Dysregulation	Recurrent respiratory infections, Lumbar hyperlordosis, Short stature, Pneumonia, Kyphoscoliosis,...	OMIM:607944
Carey-Fineman-Ziter Syndrome 1	Flexion contracture, Glossoptosis, High palate, Gastroesophageal reflux, Lagophthalmos, Cryptorch...	OMIM:254940
Acute Interstitial Pneumonia	Crackles, Nonproductive cough, Dyspnea, Tachypnea, Bronchiectasis, Hypoxemia, Respiratory failure...	ORPHA:79126
Glucagonoma	Anorexia, Poor appetite, Lack of bowel sounds, Acanthocytosis, Episodic abdominal pain, Increased...	ORPHA:97280
Immunodeficiency 17	Recurrent respiratory infections, Autoimmune hemolytic anemia, Eczema, Decreased proportion of CD...	OMIM:615607
Hereditary Central Diabetes Insipidus	Growth delay, Weight loss	ORPHA:30925
Immunodeficiency 93 And Hypertrophic Cardiomyopathy	Bronchiectasis, Decreased proportion of class-switched memory B cells, B lymphocytopenia, Crohn's...	OMIM:619705
Asbestos Intoxication	Reduced vital capacity, Reduced forced vital capacity, Nonproductive cough, Dyspnea, Wheezing, La...	ORPHA:2302
Pallister-Hall Syndrome	Thyroid dysgenesis, Decreased circulating cortisol level, Bifid epiglottis, Decreased response to...	OMIM:146510
Hawkinsinuria	Sparse hair	OMIM:140350
Dermatomyositis	Abnormal hair quantity, Pericarditis, Aplasia/Hypoplasia of the skin, Abnormal eyelid morphology,...	ORPHA:221
Osteogenesis Imperfecta, Type X	Respiratory distress, Multiple rib fractures, Thoracic scoliosis, Inguinal hernia, Short stature,...	OMIM:613848
Diffuse Alveolar Hemorrhage	Respiratory failure requiring assisted ventilation, Dyspnea, Leukocytosis, Increased DLCO, Weight...	ORPHA:90060
Ulnar-Mammary Syndrome	Abnormal fingernail morphology, Camptodactyly of finger, Short stature, Hypoplastic toenails, Pyl...	ORPHA:3138
Cushing Syndrome Due To Ectopic Acth Secretion	Adrenal hyperplasia, Neoplasm of the stomach, Anorexia, Pituitary corticotropic cell adenoma, Neo...	ORPHA:99889
Combined Immunodeficiency Due To Partial Rag1 Deficiency	Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ...	ORPHA:231154
Meconium Aspiration Syndrome	Respiratory distress, Maternal diabetes, Neonatal asphyxia, Wheezing, Pneumothorax, Hypoxemia, As...	ORPHA:70588
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2	Short stature, Kyphoscoliosis, Long upper lip, Hip dislocation, Advanced ossification of carpal b...	OMIM:615349
Neutropenia, Severe Congenital, 2, Autosomal Dominant	Monocytosis, B lymphocytopenia, Neutropenia	OMIM:613107
Cardiomyopathy, Dilated, 1Gg	Respiratory distress	OMIM:613642
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Oral ulcer, Leukopenia, Hashimoto thyroiditis, Abdominal pain, Leukocytosis, Aphthous ulcer, Hepa...	OMIM:615688
Oocyte/Zygote/Embryo Maturation Arrest 17	Female infertility, Amenorrhea	OMIM:620319
Oocyte/Zygote/Embryo Maturation Arrest 20	Female infertility, Amenorrhea	OMIM:620383
Craniolenticulosutural Dysplasia	Delayed eruption of teeth, Brittle hair, Short stature, Carious teeth, Posterior wedging of verte...	ORPHA:50814
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome	Duodenal ulcer, Cachexia, Malabsorption, Chronic diarrhea, Steatorrhea, Abnormality of the pharyn...	ORPHA:3217
Mitochondrial Complex Iv Deficiency, Nuclear Type 1	Respiratory distress, Ptosis, Respiratory insufficiency due to muscle weakness, Respiratory failu...	OMIM:220110
Syndromic Diarrhea	Villous atrophy, Brittle hair, Bloody diarrhea, Colitis, Hypoplasia of the thymus, Intractable di...	ORPHA:84064
Atypical Pantothenate Kinase-Associated Neurodegeneration	Tongue atrophy, Dysphagia	ORPHA:216873
Neutral Lipid Storage Disease With Ichthyosis	Ptosis, Alopecia, Short stature, Obesity, Abnormal granulocyte morphology, Eclabion, Subcapsular ...	ORPHA:98907
Japanese Encephalitis	Respiratory distress, Neutrophilia, Genu recurvatum, Anorexia, Abdominal pain, Meningitis, Diarrh...	ORPHA:79139
Monosomy 22	Epicanthus, Aplasia of the thymus, Seborrheic dermatitis, Synophrys, Hypochromic microcytic anemi...	ORPHA:96123
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome	Nasogastric tube feeding in infancy, Gastrointestinal dysmotility, Downturned corners of mouth, V...	ORPHA:453499
Ectodermal Dysplasia And Immunodeficiency 2	Sparse scalp hair, Defective production of NFKB1-dependent cytokines, Splenomegaly, Aplasia of th...	OMIM:612132
Adiposis Dolorosa	Abdominal distention, Constipation, Obesity, Painful subcutaneous lipomas	OMIM:103200
Acute Radiation Syndrome	Inflammatory abnormality of the skin, Cataract, Diarrhea, Hyperkeratosis, Interstitial pneumoniti...	ORPHA:454831
Trehalase Deficiency	Abdominal pain, Malabsorption, Abdominal distention, Diarrhea, Vomiting	ORPHA:103909
Wilson Disease	Acute hepatic failure, Abnormality of the menstrual cycle, Pruritus, Thrombocytopenia, Splenomega...	ORPHA:905
Cushing Disease	Adrenal hyperplasia, Pituitary corticotropic cell adenoma, Increased body weight, Recurrent cutan...	ORPHA:96253
Helsmoortel-Van Der Aa Syndrome	Decreased response to growth hormone stimulation test, High, narrow palate, Ectropion of lower ey...	OMIM:615873
Thyroid Hemiagenesis	Thyroid agenesis, Abdominal distention, Growth delay, Macroglossia, Constipation, Umbilical hernia	ORPHA:95719
Graves Disease, Susceptibility To, 1	Hyperhidrosis, Onycholysis, Weight loss	OMIM:275000
Autoinflammation, Panniculitis, And Dermatosis Syndrome	Neutrophilia, Skin rash, Lipodystrophy, Failure to thrive in infancy, Abdominal pain, Leukocytosi...	OMIM:617099
Refractory Celiac Disease	Normocytic anemia, Inflammatory abnormality of the skin, Macrocytic anemia, Villous atrophy, Micr...	ORPHA:398063
Asthma, Short Stature, And Elevated Iga	Increased circulating IgA level	OMIM:208600
Sunct Syndrome	Palpebral edema, Episodic hyperhidrosis, Facial erythema, Hyperhidrosis, Conjunctival hyperemia, ...	ORPHA:57145
Cerebral Arteriopathy, Autosomal Recessive, With Subcortical Infarcts And Leukoencephalopathy	Alopecia	OMIM:600142
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency	Respiratory distress, Poor appetite, Reye syndrome-like episodes, Diarrhea, Feeding difficulties,...	ORPHA:927
Neonatal Inflammatory Skin And Bowel Disease	Recurrent bacterial skin infections, Chapped lip, Psoriasiform dermatitis, Anal fissure, Pustule,...	ORPHA:294023
Transketolase Deficiency	Cataract, Proportionate short stature, Seborrheic dermatitis, Uveitis, Conjunctivitis	ORPHA:488618
Late-Onset Isolated Acth Deficiency	Normocytic anemia, Decreased circulating cortisol level, Anorexia, Sepsis, Hashimoto thyroiditis,...	ORPHA:199299
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Thin upper lip vermilion, Inguinal hernia, Thyroid lymphangiectasia, Splenomegaly, Abdominal dist...	OMIM:235255
Ollier Disease	Subcutaneous nodule, Skin ulcer	ORPHA:296
Chronic Actinic Dermatitis	Late onset atopic dermatitis, Epidermal acanthosis, Eczema, Allergic rhinitis, Hypopigmented skin...	ORPHA:330064
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome	Central apnea, Thin upper lip vermilion, Epicanthus, Lumbar hyperlordosis, Abnormal location of t...	ORPHA:522077
Mitochondrial Complex Iii Deficiency, Nuclear Type 10	Small for gestational age, Alopecia totalis, Feeding difficulties in infancy, Normochromic anemia...	OMIM:618775
Q Fever	Respiratory distress, Anorexia, Cholecystitis, Cough, Meningitis, Infectious encephalitis, Maculo...	ORPHA:781
Porphyria Due To Ala Dehydratase Deficiency	Ankle flexion contracture, Abdominal pain, Abnormal erythrocyte enzyme level, Abdominal distentio...	ORPHA:100924
Hypermobile Ehlers-Danlos Syndrome	Joint dislocation, Apnea, Osteoarthritis, Abnormality of the gingiva, Gastrointestinal dysmotilit...	ORPHA:285
Eec Syndrome	Xerostomia, Coarse hair, Aplasia/Hypoplasia of the skin, Short stature, Abnormal dental enamel mo...	ORPHA:1896
Folinic Acid-Responsive Seizures	Respiratory distress, Abdominal distention, Apnea	ORPHA:79097
Whim Syndrome	Pharyngitis, Abnormal small intestine morphology, Sinusitis, Severe periodontitis, Pneumonia, Lym...	ORPHA:51636
Rat-Bite Fever	Lymphadenitis, Sepsis, Vomiting, Morbilliform rash, Meningitis, Pharyngitis, Maculopapular exanth...	ORPHA:31205
Hutchinson-Gilford Progeria Syndrome	Dental crowding, Short lingual frenulum, Osteoarthritis, High palate, Shallow orbits, Dystrophic ...	ORPHA:740
Microcephaly, Developmental Delay, And Brittle Hair Syndrome	Brittle hair, Small for gestational age, Failure to thrive in infancy, Short stature, Feeding dif...	OMIM:618891
Plague	Respiratory distress, Chapped lip, Anorexia, Lymphadenitis, Sepsis, Bloody diarrhea, Acute infect...	ORPHA:707
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus	Decreased serum estradiol, Short philtrum, Streak ovary, Premature ovarian insufficiency, Duplica...	ORPHA:572333
Viss Syndrome	Chronic gastritis, High, narrow palate, High palate, Gastroesophageal reflux, Broad uvula, Emphys...	OMIM:619472
Ear-Patella-Short Stature Syndrome	Respiratory distress, High, narrow palate, Bifid uvula, Cryptorchidism, Abnormal rib morphology, ...	ORPHA:2554
Microscopic Polyangiitis	Episcleritis, Increased inflammatory response, Pericarditis, Sinusitis, Skin rash, Abnormal retin...	ORPHA:727
Cowden Syndrome 5	Colonic diverticula, Hyperthyroidism, Cataract, Kyphosis, Narrow mouth, Thyroiditis, Palmoplantar...	OMIM:615108
Orofaciodigital Syndrome Type 6	Epicanthus, Failure to thrive, Apnea, Episodic tachypnea, Highly arched eyebrow, Hamartoma of ton...	ORPHA:2754
Hurler Syndrome	Flexion contracture, Hernia, Microdontia, Short stature, Gingival overgrowth, Wide nasal bridge, ...	OMIM:607014
Ichthyosis, Congenital, Autosomal Recessive 5	Parakeratosis, Epidermal acanthosis, Palmoplantar keratoderma, Erythroderma, Orthokeratosis, Whit...	OMIM:604777
Immunodeficiency 44	Post-vaccination measles, Lymphopenia, Severe viral infection	OMIM:616636
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome	Thoracic scoliosis, Downturned corners of mouth, Gastroesophageal reflux, Sparse hair, Intrauteri...	OMIM:620186
Hyperparathyroidism, Transient Neonatal	Respiratory distress, Hyperparathyroidism, Wide cranial sutures, Inguinal hernia, Undulate ribs, ...	OMIM:618188
Intellectual Developmental Disorder, Autosomal Dominant 66	Sparse hair	OMIM:619910
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction	Hypoparathyroidism, Epicanthus, Aplasia of the thymus, Decreased response to growth hormone stimu...	OMIM:618223
Chronic Granulomatous Disease	Macule, Sinusitis, Eczema, Hypermelanotic macule, Malabsorption, Pyloric stenosis, Tracheoesophag...	ORPHA:379
Epithelial Recurrent Erosion Dystrophy	Subepithelial corneal opacities, Corneal dystrophy, Irregular astigmatism, Corneal scarring, Kera...	ORPHA:293381
Necrotizing Enterocolitis	Neonatal sepsis, Apnea, Small for gestational age, Abdominal distention, Leukocytosis, Peritoniti...	ORPHA:391673
Intellectual Developmental Disorder, X-Linked, Syndromic 33	Thin upper lip vermilion, Eczema, Oral-pharyngeal dysphagia, Toenail dysplasia, High, narrow pala...	OMIM:300966
Diamond-Blackfan Anemia 10	Respiratory distress, Macrocytic anemia, Short stature, Congenital diaphragmatic hernia, Morgagni...	OMIM:613309
Orofaciodigital Syndrome Xix	Epicanthus, Cleft soft palate, Accessory oral frenulum, Carious teeth, Wide nasal bridge, Narrow ...	OMIM:620107
Khan-Khan-Katsanis Syndrome	Failure to thrive, Tented upper lip vermilion, Short stature, Trichiasis, Highly arched eyebrow, ...	OMIM:618460
Infantile Systemic Hyalinosis	Severe short stature, Camptodactyly of finger, Malabsorption, Subcutaneous nodule, Skin ulcer, Gr...	ORPHA:2176
Ichthyosis Prematurity Syndrome	Epidermal acanthosis, Allergic rhinitis, Follicular hyperkeratosis, Erythroderma, Alopecia of scalp	OMIM:608649
Colchicine Poisoning	Respiratory distress, Alopecia, Myocarditis, Leukocytosis, Diarrhea, Cardiorespiratory arrest, Vo...	ORPHA:31824
Angelman Syndrome	Keratoconus, Iris hypopigmentation, Precocious puberty in females, Protruding tongue, Gastrostomy...	ORPHA:72
Keppen-Lubinsky Syndrome	Tented upper lip vermilion, Lack of facial subcutaneous fat, Decreased serum leptin, Recurrent pn...	OMIM:614098
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome	Ptosis, Short stature, Cachexia, Anorexia, Abnormality of the thyroid gland, Kyphosis, Scoliosis,...	ORPHA:1969
Idiopathic Neonatal Atrial Flutter	Respiratory distress, Maternal diabetes, Large for gestational age, Feeding difficulties in infan...	ORPHA:45452
Neuropathy, Hereditary Sensory And Autonomic, Type Ic	Anhidrosis, Osteomyelitis, Skin ulcer	OMIM:613640
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome	Joint dislocation, Short stature, Camptodactyly of finger, High, narrow palate, Submucous cleft h...	ORPHA:3201
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis	Psoriasiform dermatitis, Short stature, Developmental cataract, Delayed puberty, Failure to thriv...	OMIM:616834
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome	Telecanthus, Prominent metopic ridge, Corneal opacity, Tented upper lip vermilion, Exaggerated cu...	ORPHA:364577
Lenz-Majewski Hyperostotic Dwarfism	Anterior pituitary hypoplasia, Hemivertebrae, Knee flexion contracture, Anteriorly placed anus, S...	OMIM:151050
Osteogenesis Imperfecta, Type Xx	Highly arched eyebrow, Narrow palate, High palate, Sparse hair, Sparse lateral eyebrow	OMIM:618644
Rhabdoid Tumor	Nausea and vomiting, Poor appetite, Abdominal pain, Respiratory insufficiency, Weight loss, Anemi...	ORPHA:69077
Familial Nasal Acilia	Respiratory distress, Dyspnea, Recurrent upper respiratory tract infections, Bronchiectasis, Chro...	ORPHA:922
17Q23.1Q23.2 Microdeletion Syndrome	Epicanthus, Short stature, Highly arched eyebrow, Dyspnea, Narrow mouth, Patellar hypoplasia, Con...	ORPHA:261279
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation	Respiratory distress, Thin upper lip vermilion, Epicanthus, Telecanthus, Tented upper lip vermili...	ORPHA:438216
Cogan Syndrome	Episcleritis, Keratitis, Leukocytosis, Uveitis, Scleritis, Conjunctivitis, Thrombocytosis, Inflam...	ORPHA:1467
Fontaine Progeroid Syndrome	High, narrow palate, Synophrys, Low anterior hairline, Anteriorly placed anus, Oligodontia, Coars...	OMIM:612289
Neuropathy, Hereditary Sensory And Autonomic, Type Iib	Episodic hyperhidrosis, Osteomyelitis, Acral ulceration	OMIM:613115
Graft Versus Host Disease	Fasciitis, Myositis, Maculopapular exanthema, Pneumonia, Inflammatory abnormality of the skin, Du...	ORPHA:39812
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias	Recurrent sinopulmonary infections, Decreased proportion of CD4+CD25+ regulatory T cells, Autoimm...	OMIM:619846
Hajdu-Cheney Syndrome	Synophrys, Low anterior hairline, Coarse hair, Periodontitis, Hernia, Generalized hirsutism, Iris...	ORPHA:955
Abetalipoproteinemia	Reticulocytosis, Failure to thrive, Kyphoscoliosis, Acanthocytosis, Chronic diarrhea, Keratoconju...	ORPHA:14
N-Acetylglutamate Synthase Deficiency	Respiratory distress, Failure to thrive, Vomiting	OMIM:237310
Primary Dystonia, Dyt4 Type	Respiratory distress, Eunuchoid habitus, Kyphoscoliosis, Blepharospasm, Dysphagia, Movement abnor...	ORPHA:98805
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Respiratory distress, Multiple joint contractures, Multiple joint dislocation, Microcornea, High ...	ORPHA:536467
Au-Kline Syndrome	Downturned corners of mouth, Vertebral segmentation defect, Oligodontia, High palate, Gastroesoph...	OMIM:616580
Cranioectodermal Dysplasia 1	High, narrow palate, Tubulointerstitial nephritis, High palate, Widely spaced teeth, Microdontia,...	OMIM:218330
Plasminogen Deficiency, Type I	Duodenal ulcer, Recurrent upper respiratory tract infections, Gingival overgrowth, Gingivitis, Co...	OMIM:217090
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Omphalocele, Natal tooth, Rhizomelia, Hamartoma of tongue, Unicoronal synostosis, Sparse eyebrow,...	OMIM:616300
Acquired Methemoglobinemia	Respiratory distress, Abdominal pain, Dyspnea, Hypoxemia, Vomiting, Methemoglobinemia	ORPHA:464453
Intellectual Developmental Disorder, Autosomal Dominant 58	Inguinal hernia, Dental crowding, Short stature, Protruding tongue, Submucous cleft hard palate, ...	OMIM:618106
Cowden Syndrome 6	Colonic diverticula, Hyperthyroidism, Cataract, Kyphosis, Narrow mouth, Thyroiditis, Palmoplantar...	OMIM:615109
Omphalocele Syndrome, Shprintzen-Goldberg Type	Omphalocele, Thin upper lip vermilion, Telecanthus, Neonatal respiratory distress, Laryngeal hypo...	ORPHA:3164
Cranioectodermal Dysplasia 3	Short nail, Broad nail, Cutis laxa, Fine hair, Sparse hair, Dry skin	OMIM:614099
Myotubular Myopathy With Abnormal Genital Development	Respiratory distress, Unilateral cryptorchidism, Bilateral cryptorchidism, Feeding difficulties, ...	OMIM:300219
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked	Smooth philtrum, Intestinal pseudo-obstruction, Intestinal malrotation, Increased mean platelet v...	OMIM:300048
Retinitis Pigmentosa With Or Without Skeletal Anomalies	Sparse eyelashes, Sparse eyebrow, Small nail, Sparse hair, High anterior hairline, Cafe-au-lait spot	OMIM:250410
Systemic Mastocytosis With Associated Hematologic Neoplasm	Normocytic anemia, Acute myeloid leukemia, Neutrophilia, Eosinophilia, Peptic ulcer, Abdominal pa...	ORPHA:98849
Orofaciodigital Syndrome Type 2	Apnea, Central retinal vessel vascular tortuosity, Tachypnea, High palate, Hypoplasia of the epig...	ORPHA:2751
Marfan Syndrome	Cachexia, Inguinal hernia, Arthralgia/arthritis, Flat cornea, Protrusio acetabuli, Limited elbow ...	ORPHA:558
Methylmalonic Aciduria, Cblb Type	Respiratory distress, Pancytopenia, Feeding difficulties in infancy, Anemia, Vomiting, Neutropeni...	OMIM:251110
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency	Respiratory distress, Flexion contracture, Esophageal varix, Respiratory insufficiency, Hepatospl...	ORPHA:367
Huntington Disease-Like 2	Weight loss	OMIM:606438
Wiedemann-Rautenstrauch Syndrome	Decreased response to growth hormone stimulation test, Synophrys, Hypoplastic vertebral bodies, D...	ORPHA:3455
Addison Disease	Normocytic anemia, Decreased circulating cortisol level, Adrenal calcification, Adrenal hypoplasi...	ORPHA:85138
Mandibulofacial Dysostosis, Guion-Almeida Type	Respiratory distress, Epicanthus, Telecanthus, Short stature, Feeding difficulties in infancy, Es...	OMIM:610536
Squamous Cell Carcinoma Of The Anal Canal	Anal stenosis, Rectal prolapse, Skin ulcer, Neoplasm of the rectum, Intestinal bleeding, Anal can...	ORPHA:424019
Chilton-Okur-Chung Neurodevelopmental Syndrome	Hooded eyelid, Anterior pituitary hypoplasia, Synophrys, Low anterior hairline, Episodic vomiting...	OMIM:619841
Localized Scleroderma	Fasciitis, Abnormal skin adnexa morphology, Cutaneous sclerotic plaque, Localized skin lesion, Fl...	ORPHA:90289
Short-Rib Thoracic Dysplasia 12	Omphalocele, Natal tooth, Epicanthus, Inguinal hernia, Median cleft lip, Intestinal malrotation, ...	OMIM:269860
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia	Tongue atrophy, Tongue fasciculations, Respiratory failure, Dysphagia	OMIM:613435
Cleidocranial Dysplasia 1	Respiratory distress, Persistent open anterior fontanelle, Absent frontal sinuses, High, narrow p...	OMIM:119600
Familial Multiple Nevi Flammei	Nevus flammeus, Skin ulcer, Hypermelanotic macule, Papule	ORPHA:624
Adrenoleukodystrophy	Alopecia	OMIM:300100
Succinic Acidemia	Respiratory distress	OMIM:600335
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities	Eosinophilia, Kyphoscoliosis, Disproportionate short stature, Recurrent infections, Platyspondyly...	OMIM:617425
Immunodeficiency 33	Decreased circulating total IgM, Increased circulating IgA level	OMIM:300636
Progressive Supranuclear Palsy-Parkinsonism Syndrome	Respiratory distress, Neuromuscular dysphagia	ORPHA:240085
Flotch Syndrome	Sparse eyelashes, Abnormal eyelid morphology, Abnormal eyelash morphology, Blepharitis, Inflammat...	ORPHA:2045
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability	Respiratory distress, Congenital hip dislocation, Abnormal periodontium morphology, High palate, ...	ORPHA:480880
Secondary Short Bowel Syndrome	Abnormal small intestine morphology, Villous atrophy, Aganglionic megacolon, Small intestinal dys...	ORPHA:95427
Tumoral Calcinosis, Normophosphatemic, Familial	Conjunctivitis	OMIM:610455
Congenital Tufting Enteropathy	Villous atrophy, Cataract, Abnormal small intestinal mucosa morphology, Malabsorption, Corneal er...	ORPHA:92050
Igg4-Related Dacryoadenitis And Sialadenitis	Myositis, Palpebral edema, Enlarged lacrimal glands, Thyroiditis, Xerostomia, Abnormality of the ...	ORPHA:79078
Frontorhiny	Pericallosal lipoma, Epicanthus, Cataract, Lumbar hyperlordosis, Camptodactyly of finger, Widow's...	ORPHA:391474
Pelvis-Shoulder Dysplasia	Aplasia/Hypoplasia of the ribs, Lumbar hyperlordosis, Short stature, Camptodactyly of finger, Mes...	ORPHA:2839
Orofaciodigital Syndrome Type 3	Irregular dentition, Hamartoma of tongue, Abnormality of the dentition, Abnormality of hair textu...	ORPHA:2752
Beare-Stevenson Cutis Gyrata Syndrome	Respiratory distress, Natal tooth, Hypoplastic fingernail, Craniosynostosis, Feeding difficulties...	OMIM:123790
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type	Abnormally ossified vertebrae, Maternal diabetes, Carious teeth, Abnormal respiratory system phys...	ORPHA:93346
Deafness-Craniofacial Syndrome	Short lingual frenulum, Abnormality of the dentition, Wide nasal bridge, Upslanted palpebral fiss...	ORPHA:3241
Thymic Carcinoma	Hyperhidrosis, Palpebral edema, Weight loss	ORPHA:99868
Isolated Polycystic Liver Disease	Gastrointestinal hemorrhage, Abdominal pain, Feeding difficulties in infancy, Abdominal distentio...	ORPHA:2924
Kleefstra Syndrome 1	U-Shaped upper lip vermilion, Natal tooth, Recurrent respiratory infections, Protruding tongue, P...	OMIM:610253
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Impaired lymphocyte transformation with phytohemagglutinin, Diarrhea, Severe cytomegalovirus infe...	OMIM:619313
Small Bowel Atresia	Intestinal hypoplasia, Jejunal atresia, Intestinal malrotation, Short stature, Abdominal distenti...	ORPHA:1201
Common Variable Immunodeficiency	Hemolytic anemia, Recurrent respiratory infections, Failure to thrive in infancy, Pneumonia, Recu...	ORPHA:1572
Robinow Syndrome, Autosomal Recessive 1	Tented upper lip vermilion, Dental crowding, Hemivertebrae, Thoracic hemivertebrae, Dislocated ra...	OMIM:268310
Kleefstra Syndrome Due To 9Q34 Microdeletion	Inguinal hernia, Femoral hernia, Highly arched eyebrow, Protruding tongue, Cryptorchidism, Synoph...	ORPHA:96147
Anterior Cutaneous Nerve Entrapment Syndrome	Inguinal hernia, Recurrent urinary tract infections, Anorexia, Abdominal pain, Abdominal distenti...	ORPHA:51890
Osteoglophonic Dysplasia	Respiratory distress, Delayed eruption of teeth, Telecanthus, Inguinal hernia, Rhizomelia, Campto...	OMIM:166250
Acute Adrenal Insufficiency	Normocytic anemia, Nausea and vomiting, Decreased circulating cortisol level, Decreased female li...	ORPHA:95409
Cockayne Syndrome Type 3	Dry hair, Cataract, Mild postnatal growth retardation, Carious teeth, Splenomegaly, Kyphosis, Fle...	ORPHA:90324
Ophthalmoplegia, Progressive, With Scrotal Tongue And Mental Deficiency	Furrowed tongue	OMIM:165150
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)	T lymphocytopenia	DECIPHER:16
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities	Thin upper lip vermilion, Highly arched eyebrow, Downturned corners of mouth, Growth delay, Short...	OMIM:619121
Mitochondrial Complex I Deficiency, Nuclear Type 37	Respiratory distress, Inguinal hernia, Growth delay, High palate, Pulmonary arterial hypertension...	OMIM:619272
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Respiratory distress, Smooth philtrum, Megaloblastic anemia, Pulmonary embolism, Feeding difficul...	ORPHA:79282
Punctate Palmoplantar Keratoderma Type 1	Epidermal acanthosis, Esophageal neoplasm, Abnormal epidermal morphology, Verrucous papule, Palmo...	ORPHA:79501
Bloom Syndrome	Small for gestational age, Elevated hemoglobin A1c, Decreased fertility in females, Postnatal gro...	OMIM:210900
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion	Limitation of movement at ankles, Hypopigmentation of hair, Protruding tongue, Obesity, Feeding d...	ORPHA:98794
Cerebellofaciodental Syndrome	Cataract, Short stature, Sparse eyebrow, Cryptorchidism, Dental malocclusion, Genu valgum, Fine h...	OMIM:616202
Teebi-Shaltout Syndrome	Telecanthus, Slow-growing hair, Short stature, Highly arched eyebrow, High, narrow palate, Narrow...	OMIM:272950
Robinow Syndrome	Dental crowding, Hemivertebrae, Orofacial cleft, Fused thoracic vertebrae, Short stature, Persist...	ORPHA:97360
Fibrochondrogenesis 1	Hypoplastic toenails, Megalocornea, Widely patent sagittal suture, Posterior vertebral hypoplasia...	OMIM:228520
Autosomal Dominant Otospondylomegaepiphyseal Dysplasia	Glossoptosis, Osteoarthritis, Cleft palate, Long philtrum	ORPHA:166100
Gm1-Gangliosidosis, Type Ii	Protruding tongue, Splenomegaly, Narrow mouth, Gingival overgrowth, Dysphagia, Hypoplastic verteb...	OMIM:230600
Diarrhea 8, Secretory Sodium, Congenital	Abdominal distention, Inflammation of the large intestine, Secretory diarrhea	OMIM:616868
Ophthalmoplegia-Intellectual Disability-Lingua Scrotalis Syndrome	Furrowed tongue, Ptosis	ORPHA:2743
Pallister-Hall-Like Syndrome	Median cleft lip, Short stature, Microglossia, Hip dislocation, Cleft palate, Short ribs, Anterio...	OMIM:241800
Cole Disease	Hypopigmented macule, Epidermal acanthosis, Punctate palmoplantar hyperkeratosis, Hyperkeratosis,...	OMIM:615522
Systemic Capillary Leak Syndrome	Pericarditis, Abdominal pain, Myocarditis, Leukocytosis, Diarrhea, Cardiorespiratory arrest, Weig...	ORPHA:188
Phosphoribosylpyrophosphate Synthetase Superactivity	Epicanthus, Small for gestational age, Short stature, Cryptorchidism, Gout, Recurrent infections,...	OMIM:300661
Isolated Succinate-Coq Reductase Deficiency	Severe short stature, Proportionate short stature, Weight loss, Knee flexion contracture, Intraut...	ORPHA:3208
Systemic Lupus Erythematosus	Hemolytic anemia, Alopecia, Lupus nephritis, Discoid lupus rash, Cheilitis, Oral ulcer, Abnormal ...	ORPHA:536
Pulmonary Alveolar Proteinosis, Acquired	Brain abscess, Recurrent respiratory infections, Lung abscess, Pneumonia, Dyspnea, Inspiratory cr...	OMIM:610910
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Thin upper lip vermilion, Inguinal hernia, Postnatal growth retardation, Splenomegaly, Abdominal ...	ORPHA:1655
Progressive Supranuclear Palsy-Corticobasal Syndrome	Respiratory distress, Dysphagia	ORPHA:240103
Auriculocondylar Syndrome 3	Glossoptosis, Laryngeal cleft, Bifid uvula, Ectropion	OMIM:615706
Agammaglobulinemia 9, Autosomal Recessive	Seborrheic dermatitis, Recurrent bacterial infections, Eczematoid dermatitis, Absent circulating ...	OMIM:619693
Wrinkly Skin Syndrome	Congenital hip dislocation, High palate, Sparse hair, Emphysema, Short stature, Cryptorchidism, U...	ORPHA:2834
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive	Respiratory distress, Severe short stature, Lymphocytic interstitial pneumonia, Decreased respons...	OMIM:245590
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb	Thin upper lip vermilion, Failure to thrive, Sparse eyelashes, Short stature, Sparse eyebrow, Bil...	OMIM:618874
46,Xy Sex Reversal 6	Hirsutism, Sparse axillary hair	OMIM:613762
Immunodeficiency 43	Recurrent respiratory infections, Lung abscess, Bronchiectasis, B lymphocytopenia, Reduced natura...	OMIM:241600
Xanthoma Disseminatum	Abnormality of the pharynx, Abnormal lip morphology, Diabetes insipidus, Abnormality of the larynx	ORPHA:158003
Congenital Heart Block	Feeding difficulties in infancy, Intrauterine growth retardation, Pleural effusion, Crackles	ORPHA:60041
Scalp-Ear-Nipple Syndrome	Anisocoria, Multiple lipomas, Sparse hair, Iris coloboma, Bifid uvula, Short stature, Pyelonephri...	OMIM:181270
Menke-Hennekam Syndrome 1	Deep philtrum, Flexion contracture, High palate, Short philtrum, Gastroesophageal reflux, Sparse ...	OMIM:618332
Transcobalamin Deficiency	Pancytopenia, Lymphopenia, Thrombocytopenia, Neutropenia	ORPHA:859
Paramyotonia Congenita Of Von Eulenburg	Neonatal inspiratory stridor, Dysphagia, Feeding difficulties	ORPHA:684
Robinow Syndrome, Autosomal Dominant 3	Anteriorly placed anus, Downturned corners of mouth, Short stature, Cleft lip, Cryptorchidism, Gi...	OMIM:616894
Granulomatosis With Polyangiitis	Sinusitis, Granulomatosis, Otitis media, Abnormal oral cavity morphology, Cough, Chronic otitis m...	ORPHA:900
Auriculocondylar Syndrome 1	Apnea, Dental crowding, Dental malocclusion, Cleft palate, Mandibular condyle hypoplasia, Anterio...	OMIM:602483
Focal Myositis	Myositis, Weight loss	ORPHA:48918
Isolated Atp Synthase Deficiency	Respiratory distress, Cataract, Short stature, Hypogonadism, Hypothyroidism, Ptosis	ORPHA:254913
Orofaciodigital Syndrome V	Unilateral ptosis, Thin upper lip vermilion, Recurrent respiratory infections, Median cleft lip, ...	OMIM:174300
Ring Chromosome Y Syndrome	Male infertility, Streak ovary, Short stature, Unilateral cryptorchidism, Female infertility, Cry...	ORPHA:261529
Blau Syndrome	Nongranulomatous uveitis, Pericarditis, Cataract, Eczema, Camptodactyly of finger, Band keratopat...	OMIM:186580
Arachnodactyly-Abnormal Ossification-Intellectual Disability Syndrome	Apnea, Feeding difficulties, Aplasia/Hypoplasia of the Epiglottis, Shallow orbits, Short nose, Do...	ORPHA:1129
Dyskeratosis, Hereditary Benign Intraepithelial	Oral leukoplakia, Red eye	OMIM:127600
Peeling Skin Syndrome 6	Parakeratosis, Atopic dermatitis, Scaling skin, Orthokeratosis, Dry skin	OMIM:618084
Mucopolysaccharidosis Type 3	Adenoiditis, Synophrys, Flexion contracture, Abnormal form of the vertebral bodies, Coarse hair, ...	ORPHA:581
Autoinflammatory Disease, Systemic, X-Linked	Anterior uveitis, Osteomyelitis, Conical tooth, Hepatosplenomegaly, Panuveitis, Panniculitis, Opt...	OMIM:301081
Adrenocortical Carcinoma	Increased urinary cortisol level, Diabetes mellitus, Paradoxical increased cortisol secretion on ...	ORPHA:1501
Pancreatic Triacylglycerol Lipase Deficiency	Abdominal pain, Abdominal distention, Diarrhea, Weight loss, Growth delay, Iron deficiency anemia...	ORPHA:309031
Triosephosphate Isomerase Deficiency	Normocytic anemia, Hemolytic anemia, Macrocytic anemia, Respiratory distress, Failure to thrive, ...	OMIM:615512
Ichthyosis, Congenital, Autosomal Recessive 8	Orthokeratosis, Hyperkeratosis, Erythema, Epidermal acanthosis	OMIM:613943
Methylmalonic Aciduria, Cbla Type	Respiratory distress, Pancytopenia, Feeding difficulties in infancy, Anemia, Vomiting, Neutropeni...	OMIM:251100
Spondyloepiphyseal Dysplasia Congenita	Respiratory distress, Lumbar hyperlordosis, Ovoid vertebral bodies, Limited elbow movement, Kypho...	OMIM:183900
Bamforth-Lazarus Syndrome	Thyroid agenesis, Bifid epiglottis, Cleft palate, Congenital hypothyroidism	OMIM:241850
Arterial Tortuosity Syndrome	Keratoconus, Respiratory distress, Inguinal hernia, Femoral hernia, Craniosynostosis, Hiatus hern...	ORPHA:3342
8P23.1 Microdeletion Syndrome	Epicanthus, Short stature, Congenital diaphragmatic hernia, Obesity, Weight loss, Upslanted palpe...	ORPHA:251071
Liposarcoma	Subcutaneous nodule, Weight loss	ORPHA:69078
Inflammatory Bowel Disease 11	Inflammation of the large intestine, Weight loss	OMIM:191390
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria	Respiratory distress, Multiple joint contractures, Nasogastric tube feeding in infancy, Sepsis, I...	ORPHA:99646
Vacterl/Vater Association	Omphalocele, Congenital diaphragmatic hernia, Cryptorchidism, Non-midline cleft lip, Abnormal rib...	ORPHA:887
Neurodevelopmental Disorder With Variable Motor And Language Impairment	Epicanthus, Protruding tongue, Prominent crus of helix, Synophrys, Widow's peak, Upper eyelid ede...	OMIM:617804
Brain-Lung-Thyroid Syndrome	Thyroid dysgenesis, Hypoparathyroidism, Thyroid hemiagenesis, Respiratory distress, Neonatal resp...	ORPHA:209905
Autosomal Dominant Hypocalcemia	Alopecia, Dry skin, Abnormal fingernail morphology, Abnormality of the nail	ORPHA:428
Greenberg Dysplasia	Laryngeal calcification, Beaded ribs, Hypoplastic vertebral bodies, Absent or minimally ossified ...	OMIM:215140
Orofaciodigital Syndrome Xv	Lobulated tongue, Wide nasal bridge, Midline notch of upper alveolar ridge	OMIM:617127
Achondrogenesis Type 1A	Multiple rib fractures, Severe short stature, Femoral hernia, Abdominal distention, Long philtrum...	ORPHA:93299
Panbronchiolitis, Diffuse	Crackles, Rhonchi, Wheezing, Bronchiectasis, Hypoxemia, Cough	OMIM:604809
Epidermodysplasia Verruciformis, Susceptibility To, 3	Palmar pits, Epidermal acanthosis	OMIM:618267
Developmental And Speech Delay Due To Sox5 Deficiency	Exaggerated median tongue furrow, Thoracic kyphoscoliosis, Lumbar hyperlordosis, Vertebral fusion...	ORPHA:313892
Trichinellosis	Skin rash, Central retinal artery occlusion, Anisocoria, Conjunctivitis, Dysphagia, Conjunctival ...	ORPHA:863
Cidec-Related Familial Partial Lipodystrophy	Loss of subcutaneous adipose tissue in limbs, Lipodystrophy, Decreased adiponectin level, Decreas...	ORPHA:435651
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome	Respiratory distress, Epicanthus, Supernumerary nipple, Cryptorchidism, Abnormal rib morphology, ...	ORPHA:2519
8Q24.3 Microdeletion Syndrome	Respiratory distress, Ectopic posterior pituitary, Thoracic scoliosis, Congenital hip dislocation...	ORPHA:508488
Acrocallosal Syndrome	Downturned corners of mouth, High palate, Short philtrum, Prominent palatine ridges, Bifid uvula,...	OMIM:200990
Joubert Syndrome 18	Trident pelvis, Kyphoscoliosis, Cleft palate, Lobulated tongue, Camptodactyly, Intrauterine growt...	OMIM:614815
Acro-Renal-Mandibular Syndrome	Aplasia/Hypoplasia of the tongue, Congenital diaphragmatic hernia, Kyphosis, Hemivertebrae, Trach...	ORPHA:958
Intellectual Developmental Disorder, Autosomal Dominant 29	Thin upper lip vermilion, Lumbar hyperlordosis, Dental crowding, Hyperlordosis, Cryptorchidism, S...	OMIM:616078
Angelman Syndrome	Protruding tongue, Feeding difficulties in infancy, Blue irides, Obesity, Wide mouth, Macroglossi...	OMIM:105830
Cerebrocostomandibular Syndrome	Congenital hip dislocation, Anteriorly placed anus, Glossoptosis, High palate, Gastroesophageal r...	OMIM:117650
Neutrophilic Dermatosis, Acute Febrile	Erythema, Pyoderma gangrenosum, Panniculitis, Cystic acne, Acne inversa	OMIM:608068
Developmental And Epileptic Encephalopathy 80	Tented upper lip vermilion, Protruding tongue, Wide nasal bridge, Feeding difficulties, Upslanted...	OMIM:618580
Weaver Syndrome	Deep-set nails, Epicanthus, Inguinal hernia, Thin nail, Kyphosis, Cryptorchidism, Limited elbow e...	OMIM:277590
Thymoma	Myositis, Aplastic anemia, Glomerulonephritis, Pure red cell aplasia, Dyspnea, Imbalanced hemoglo...	ORPHA:99867
Myoectodermal Gonadal Dysgenesis Syndrome	Omphalocele, Epicanthus, Short stature, Small for gestational age, Highly arched eyebrow, Sparse ...	OMIM:618419
Lipe-Related Familial Partial Lipodystrophy	Loss of subcutaneous adipose tissue in limbs, Lipodystrophy, Decreased adiponectin level, Decreas...	ORPHA:435660
Diffuse Cutaneous Systemic Sclerosis	Malabsorption, Flexion contracture, Xerostomia, Skin ulcer, Arthritis	ORPHA:220393
Letterer-Siwe Disease	Seborrheic dermatitis, Thrombocytopenia, Dyspnea, Abdominal distention, Hepatosplenomegaly, Neutr...	OMIM:246400
Alternating Hemiplegia Of Childhood	Respiratory distress, Apnea, Exaggerated cupid's bow, Anorexia, Oral-pharyngeal dysphagia, Abdomi...	ORPHA:2131
Angelman Syndrome Due To A Point Mutation	Hypopigmentation of hair, Protruding tongue, Obesity, Feeding difficulties, Wide mouth, Widely sp...	ORPHA:411511
White Sponge Nevus 1	Oral leukoplakia	OMIM:193900
Marshall-Smith Syndrome	Craniosynostosis, Protruding tongue, Gingival overgrowth, Scoliosis, Open mouth, Failure to thriv...	ORPHA:561
Sheehan Syndrome	Decreased circulating cortisol level, Reduced circulating prolactin concentration, Poor appetite,...	ORPHA:91355
Ablepharon Macrostomia Syndrome	Absent eyebrow, Redundant skin, Abnormal hair pattern, Absent eyelashes, Fine hair, Excessive wri...	ORPHA:920
Familial Mediterranean Fever	Acute hepatic failure, Nausea and vomiting, Pericarditis, Intestinal obstruction, Skin rash, Mala...	ORPHA:342
Otopalatodigital Syndrome Type 2	Omphalocele, Failure to thrive, Cataract, Tarsal synostosis, Camptodactyly of finger, Elbow dislo...	ORPHA:90652
Juvenile Huntington Disease	Weight loss	ORPHA:248111
Interstitial Lung Disease 1	Nonspecific interstitial pneumonia, Crackles, Dyspnea, Restrictive ventilatory defect, Cough, Dec...	OMIM:619611
Amyotrophic Lateral Sclerosis 27, Juvenile	Tongue atrophy, Hyperlordosis, Respiratory insufficiency, Tongue fasciculations, Scoliosis	OMIM:620285
Pallister-Killian Syndrome	Congenital hip dislocation, Tented upper lip vermilion, Congenital diaphragmatic hernia, Flexion ...	OMIM:601803
Myeloma, Multiple	Paraproteinemia	OMIM:254500
Lmna-Related Cardiocutaneous Progeria Syndrome	Absent eyebrow, Absent eyelashes, Premature graying of hair, Sparse hair, Premature skin wrinklin...	ORPHA:363618
Lipodystrophy, Congenital Generalized, Type 2	Reduced subcutaneous adipose tissue, Acute pancreatitis, Lipodystrophy, Elevated hemoglobin A1c, ...	OMIM:269700
Ovarian Fibrothecoma	Metrorrhagia, Abdominal pain, Abdominal distention, Peritonitis, Abnormal circulating hormone con...	ORPHA:314478
Congenital Sialidosis Type 2	Inguinal hernia, Cataract, Corneal opacity, Protruding tongue, Gingival overgrowth, Hepatosplenom...	ORPHA:93400
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia	Skin rash, Meningitis, Recurrent pneumonia, Decreased mean platelet volume, Bloody diarrhea, Hema...	OMIM:617718
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly	Omphalocele, Respiratory distress, Respiratory failure, Short ribs, Long philtrum, Horizontal ribs	OMIM:617895
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Flexion contracture, Knee flexion contracture, Short philtrum, Gastroesophageal reflux, Sparse ha...	OMIM:210710
Immunodeficiency 55	Absent natural killer cells, Recurrent skin infections, Eczema, Short stature, Postnatal growth r...	OMIM:617827
Shprintzen Omphalocele Syndrome	Omphalocele, Epicanthus, Lumbar hyperlordosis, Neonatal respiratory distress, Short stature, Lary...	OMIM:182210
Beta-Thalassemia	Pallor, Hepatitis, Skin ulcer	ORPHA:848
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant	Respiratory distress, Thoracic scoliosis, Gastrostomy tube feeding in infancy, Knee contracture, ...	OMIM:620278
Achondroplasia	Respiratory distress, Lumbar hyperlordosis, Rhizomelia, Upper airway obstruction, Feeding difficu...	OMIM:100800
Carnitine Deficiency, Systemic Primary	Respiratory distress, Diarrhea, Failure to thrive, Vomiting	OMIM:212140
Congenital Sucrase-Isomaltase Deficiency	Abdominal distention, Abdominal colic, Vomiting, Diarrhea	ORPHA:35122
Cockayne Syndrome A	Dry hair, Sparse hair, Loss of facial adipose tissue, Short stature, Cryptorchidism, Hypoplasia o...	OMIM:216400
Fanconi Anemia	Abnormal eyelid morphology, Leukopenia, High palate, Abnormality of the hypothalamus-pituitary ax...	ORPHA:84
Neuroendocrine Tumor Of Stomach	Nausea and vomiting, Anorexia, Poor appetite, Bowel urgency, Hematemesis, Lack of bowel sounds, I...	ORPHA:100075
Muscular Dystrophy, Congenital, With Or Without Seizures	Respiratory distress, Abdominal pain, Feeding difficulties, Respiratory failure, Dysphagia, Type ...	OMIM:620166
Cutis Laxa, Autosomal Recessive, Type Ic	Accessory spleen, Posterolateral diaphragmatic hernia, Inguinal hernia, Adrenal hypoplasia, Morga...	OMIM:613177
Cockayne Syndrome B	Dry hair, Microcornea, Hypoplasia of the iris, Sparse hair, Loss of facial adipose tissue, Crypto...	OMIM:133540
Diarrhea 12, With Microvillus Atrophy	Villous atrophy, Microvillus inclusions, Abdominal distention, Secretory diarrhea, Bronchiectasis...	OMIM:619445
Immunodeficiency 87 And Autoimmunity	Atrophic gastritis, Villous atrophy, Recurrent viral infections, Secretory diarrhea, Sepsis, Intr...	OMIM:619573
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3	Abnormal nasopharynx morphology, Absence of Stensen duct, Decreased response to growth hormone st...	OMIM:604292
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Respiratory distress, Inflammatory abnormality of the skin, Small for gestational age, Pneumonia,...	ORPHA:26793
Brucellosis	Liver abscess, Anorexia, Knee osteoarthritis, Leukopenia, Vomiting, Infectious encephalitis, Naus...	ORPHA:1304
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7	Cryptorchidism, Anemia, Premature graying of hair, Nail dystrophy, Type I diabetes mellitus, Emph...	OMIM:620365
Acquired Purpura Fulminans	Macule, Erythematous macule, Skin rash, Pyoderma gangrenosum, Macular purpura	ORPHA:49566
Dyskeratosis Congenita, Autosomal Recessive 5	Esophageal stenosis, Postnatal growth retardation, Leukopenia, Colitis, Bone marrow hypocellulari...	OMIM:615190
Al Amyloidosis	Gastrointestinal hemorrhage, Howell-Jolly bodies, Gastroparesis, Nonproductive cough, Dyspnea, Ab...	ORPHA:85443
Tarp Syndrome	Failure to thrive, Wide nasal bridge, Cleft palate, Tongue nodules, Glossoptosis, High palate, Sh...	OMIM:311900
Central Diabetes Insipidus	Failure to thrive, Weight loss	ORPHA:178029
Encephalocraniocutaneous Lipomatosis	Alopecia, Corneal opacity, Abnormal nasolacrimal system morphology, Lipodystrophy, Abnormal eyeli...	ORPHA:2396
Palmoplantar Carcinoma, Multiple Self-Healing	Parakeratosis, Epidermal acanthosis, Palmoplantar keratoderma, Nail dystrophy, Chronic rhinitis, ...	OMIM:615225
Riddle Syndrome	Conjunctival telangiectasia, Short stature, Pneumonia, Recurrent pneumonia, Erythema, Weight loss...	ORPHA:420741
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia	Respiratory distress, Tachypnea, Respiratory insufficiency, Respiratory failure, Vomiting	OMIM:614299
Chronic Diarrhea Due To Glucoamylase Deficiency	Dyspepsia, Abnormal small intestinal mucosa morphology, Abdominal pain, Malabsorption, Decreased ...	ORPHA:103907
Relapsing Fever	Neutrophilia, Epistaxis, Abdominal pain, Leukocytosis, Diarrhea, Anemia, Leukopenia, Vomiting, Co...	ORPHA:91547
Episodic Ataxia Type 1	Respiratory distress, Kyphoscoliosis, Nausea, Scoliosis	ORPHA:37612
Marburg Hemorrhagic Fever	Anorexia, Nonproductive cough, Odynophagia, Uveitis, Bloody diarrhea, Leukopenia, Vomiting, Conju...	ORPHA:99826
Steinert Myotonic Dystrophy	Tented upper lip vermilion, Intestinal pseudo-obstruction, Decreased response to growth hormone s...	ORPHA:273
Autoimmune Pulmonary Alveolar Proteinosis	Abnormality of the upper respiratory tract, Crackles, Dyspnea, Weight loss, Hypoxemia, Restrictiv...	ORPHA:747
Hemorrhagic Fever-Renal Syndrome	Respiratory distress, Acute tubulointerstitial nephritis, Tubulointerstitial nephritis, Vomiting,...	ORPHA:340
Chitayat Syndrome	Respiratory distress, Recurrent respiratory infections, Short stature, Thick vermilion border, Tr...	OMIM:617180
Tetanus	Respiratory distress, Laryngospasm, Bowel incontinence, Abdominal pain, Tachypnea, Dysphagia	ORPHA:3299
Roberts Syndrome	Cataract, Progressive flexion contractures, Craniosynostosis, Cleft upper lip, Postnatal growth r...	ORPHA:3103
Tempi Syndrome	Increased circulating IgG level, Increased hematocrit, Polycythemia, Facial erythema	ORPHA:284227
Volvulus Of Midgut	Telecanthus, Intestinal malrotation, Abdominal distention, Neonatal intestinal obstruction, Const...	OMIM:193250
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	High, narrow palate, Synophrys, High palate, Short philtrum, Otitis media, Vomiting, Juvenile cat...	OMIM:619475
Intellectual Developmental Disorder, Autosomal Dominant 68	Epicanthus, Feeding difficulties, Wide mouth, Recurrent infections, Astigmatism, High palate, Joi...	OMIM:619934
Toriello-Carey Syndrome	Telecanthus, Neonatal respiratory distress, Aganglionic megacolon, Short stature, Sparse eyebrow,...	ORPHA:3338
Moebius Syndrome	Epicanthus, Corneal opacity, Hypogonadotropic hypogonadism, Aplasia/Hypoplasia of the tongue, Fee...	ORPHA:570
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome	Thin upper lip vermilion, Epicanthus, Synophrys, Asthma, Nasal flaring, Wide nasal bridge, Obesit...	ORPHA:466943
Acute Lung Injury	Respiratory distress, Acute pancreatitis, Pneumonia, Dyspnea, Tachypnea, Sepsis, Hypoxemia, Respi...	ORPHA:178320
Ichthyosis, Congenital, Autosomal Recessive 9	Epidermal acanthosis, Hypohidrosis, Hyperkeratosis, Erythroderma, Orthokeratosis, Ectropion	OMIM:615023
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii	Abnormally ossified vertebrae, Alopecia, Severe short stature, Long nose, Dyspnea, Cryptorchidism...	ORPHA:2636
Oculopharyngodistal Myopathy 1	Respiratory distress, Hypercapnia, Reduced forced vital capacity, Bilateral ptosis, Respiratory i...	OMIM:164310
Ring Chromosome 22 Syndrome	Epicanthus, Protruding tongue, Growth delay, Azoospermia, Thick vermilion border, Pleural effusio...	ORPHA:1446
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15	Hypopigmentation of hair, Protruding tongue, Feeding difficulties, Wide mouth, Widely spaced teet...	ORPHA:98795
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly	Small for gestational age, Short stature, Cryptorchidism, Feeding difficulties, Respiratory failu...	OMIM:619847
Aromatase Deficiency	Eunuchoid habitus, Male infertility, Macroorchidism, postpubertal, Hypergonadotropic hypogonadism...	ORPHA:91
Hereditary Amyloidosis With Primary Renal Involvement	Dyspepsia, Gastrointestinal hemorrhage, Intestinal obstruction, Male infertility, Primary testicu...	ORPHA:85450
Attrv30M Amyloidosis	Weight loss	ORPHA:85447
Malignant Atrophic Papulosis	Intestinal fistula, Cataract, Intestinal perforation, Peritonitis, Weight loss, Arteritis, Dermal...	ORPHA:679
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome	Corneal opacity, Corneal dystrophy, Sparse eyebrow, Cryptorchidism, Synophrys, Tented philtrum, L...	ORPHA:495875
Growth Retardation, Developmental Delay, And Facial Dysmorphism	Protruding tongue, Hypoplastic toenails, Cryptorchidism, Alveolar ridge overgrowth, Cleft palate,...	OMIM:612938
Symptomatic Form Of Hfe-Related Hemochromatosis	Arthropathy, Diabetes mellitus, Hypogonadotropic hypogonadism, Abdominal pain, Splenomegaly, Amen...	ORPHA:465508
Toriello-Lacassie-Droste Syndrome	Epicanthus, Telecanthus, Aganglionic megacolon, Blepharophimosis, Laryngeal hypoplasia, Feeding d...	ORPHA:3339
Agnathia-Holoprosencephaly-Situs Inversus Syndrome	Respiratory distress, Microglossia, Aplasia/Hypoplasia of the eyebrow, Narrow mouth	ORPHA:990
Lipodystrophy, Congenital Generalized, Type 1	Reduced subcutaneous adipose tissue, Acute pancreatitis, Diabetes mellitus, Lipodystrophy, Reduce...	OMIM:608594
Goldberg-Shprintzen Syndrome	Telecanthus, Aganglionic megacolon, Highly arched eyebrow, Synophrys, Corneal erosion, Wide nasal...	OMIM:609460
Pfeiffer Syndrome Type 2	Respiratory distress, Intestinal malrotation, Cleft palate, High palate, Laryngomalacia, Tracheom...	ORPHA:93259
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features	Parakeratosis, Epidermal acanthosis, Xerostomia, Hyperkeratosis, Dry skin	OMIM:618527
Radio-Renal Syndrome	Respiratory distress, Severe short stature, High, narrow palate, Dyspnea, Abnormality of the elbo...	ORPHA:3015
Otospondylomegaepiphyseal Dysplasia	Abnormally ossified vertebrae, Cataract, Enlarged joints, Lumbar hyperlordosis, Osteoarthritis, A...	ORPHA:1427
Cholesteryl Ester Storage Disease	Acute hepatic failure, Adrenal calcification, Bone-marrow foam cells, Hypersplenism, Thrombocytop...	OMIM:278000
Hyper-Igd Syndrome	Neutrophilia, Skin rash, Abdominal pain, Lymphadenitis, Leukocytosis, Splenomegaly, Chronic diarr...	OMIM:260920
Linear Nevus Sebaceus Syndrome	Alopecia, Melanocytic nevus	ORPHA:2612
Trichorhinophalangeal Syndrome, Type Ii	Chronic gastritis, Mild postnatal growth retardation, Bilateral cryptorchidism, Deep philtrum, Ri...	OMIM:150230
Charcot-Marie-Tooth Disease, Axonal, Type 2S	Tongue atrophy, Scoliosis	OMIM:616155
Erythrokeratodermia Variabilis Et Progressiva 1	Generalized hyperkeratosis, Epidermal acanthosis, Patchy palmoplantar hyperkeratosis, Erythroderma	OMIM:133200
X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome	Thin upper lip vermilion, Epicanthus, Inguinal hernia, Narrow mouth, Cryptorchidism, Hirsutism, R...	ORPHA:459070
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Splenomegaly, Increased circulating IgG level, Autoimmune hemolytic anemia, Decreased CD4:CD8 ratio	OMIM:618495
Menkes Disease	Nausea and vomiting, Gastrointestinal hemorrhage, Inguinal hernia, Osteomyelitis, Hypopigmentatio...	ORPHA:565
Ritscher-Schinzel Syndrome 2	Intestinal malrotation, Camptodactyly of finger, Protruding tongue, Postnatal growth retardation,...	OMIM:300963
Kabuki Syndrome 1	Joint dislocation, Congenital hip dislocation, Premature thelarche, Feeding difficulties in infan...	OMIM:147920
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Oral ulcer, Gingivitis, Inflammation of the large intestine, Periodontitis, Hypothyroidism, Short...	ORPHA:79259
Alveolar Echinococcosis	Liver abscess, Cholangitis, Eosinophilia, Abdominal pain, Dyspnea, Weight loss, Abnormal spleen m...	ORPHA:284
Cap Polyposis	Atrophic gastritis, Colorectal polyposis, Weight loss	ORPHA:160148
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy	Hypoventilation, Myositis, Protruding tongue, Hyperlordosis, Increased connective tissue, Flexion...	ORPHA:258
Familial Mediterranean Fever	Pericarditis, Neutrophilia, Abdominal pain, Orchitis, Splenomegaly, Peritonitis, Leukocytosis, Ap...	OMIM:249100
Myopathy, Myofibrillar, 7	Tongue atrophy, Lumbar hyperlordosis, Multiple joint contractures, Shoulder flexion contracture, ...	OMIM:617114
Charge Syndrome	Feeding difficulties in infancy, Hemivertebrae, Eyelid coloboma, Gastroesophageal reflux, Iris co...	ORPHA:138
Polymyositis	Gastrointestinal hemorrhage, Pericarditis, Anorexia, Abdominal pain, Respiratory insufficiency, W...	ORPHA:732
Distal 22Q11.2 Microdeletion Syndrome	Thin upper lip vermilion, Inguinal hernia, Recurrent urinary tract infections, Short stature, Cam...	ORPHA:261330
Congenital Fiber-Type Disproportion Myopathy	Congenital hip dislocation, Dental crowding, Poor appetite, Nasogastric tube feeding in infancy, ...	ORPHA:2020
Premature Ovarian Failure 20	Secondary amenorrhea, Female infertility, Elevated circulating follicle stimulating hormone level...	OMIM:619938
Premature Ovarian Failure 6	Premature ovarian insufficiency, Streak ovary, Female infertility, Elevated circulating luteinizi...	OMIM:612310
Tsh-Secreting Pituitary Adenoma	Elevated circulating thyroid-stimulating hormone concentration, Vomiting, Male hypogonadism, Hype...	ORPHA:91347
Developmental And Epileptic Encephalopathy 100	Recurrent respiratory infections, Tented upper lip vermilion, Protruding tongue, Microdontia, Syn...	OMIM:619777
Burning Mouth Syndrome	Abnormality of taste sensation, Parageusia, Abnormality of the gingiva, Strawberry tongue, Xerost...	ORPHA:353253
Hydrolethalus	Tracheal atresia, Cryptorchidism, Submucous cleft hard palate, Gingival cleft, Cleft palate, Unil...	ORPHA:2189
Igg4-Related Kidney Disease	Eosinophilia, Increased circulating IgG4 level, Increased circulating IgE level, Increased circul...	ORPHA:449395
Glycogen Storage Disease Due To Acid Maltase Deficiency	Respiratory distress, Orthopnea, Bowel incontinence, Hyperlordosis, Respiratory insufficiency due...	ORPHA:365
Malignant Peritoneal Mesothelioma	Peritonitis, Ileus, Weight loss	ORPHA:168811
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form	Flexion contracture, Gastrointestinal inflammation, Iron deficiency anemia, Gastroesophageal refl...	ORPHA:79408
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Dental crowding, Feeding difficulties in infancy, Nasogastric tube feeding in infancy, High palat...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Dental crowding, Feeding difficulties in infancy, Nasogastric tube feeding in infancy, High palat...	ORPHA:353277
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency	Decreased circulating cortisol level, Abnormal ovarian physiology, Vomiting, Premature adrenarche...	ORPHA:90794
Inhalational Anthrax	Respiratory distress, Abnormal sweat gland morphology, Dyspnea, Sepsis, Vomiting	ORPHA:247257
Restrictive Dermopathy 2	Respiratory distress, Rectal prolapse, Feeding difficulties, Gastroesophageal reflux, Intrauterin...	OMIM:619793
Limbal Stem Cell Deficiency	Opacification of the corneal epithelium, Generalized opacification of the cornea, Keratitis, Corn...	ORPHA:171673
Robin Sequence With Distinctive Facial Appearance And Brachydactyly	Tented upper lip vermilion, Synophrys, Oligodontia, High palate, Exaggerated median tongue furrow...	OMIM:608670
Simpson-Golabi-Behmel Syndrome	Supernumerary nipple, Splenomegaly, Increased circulating IgE level, Nail dysplasia, Polysplenia,...	ORPHA:373
Restrictive Dermopathy	Multiple joint contractures, Sparse hair, Sparse eyebrow, Sparse or absent eyelashes, Narrow mout...	ORPHA:1662
Pfeiffer Syndrome Type 3	Respiratory distress, Intestinal malrotation, Cleft palate, High palate, Laryngomalacia, Tracheom...	ORPHA:93260
Corticosteroid-Sensitive Aseptic Abscess Syndrome	Brain abscess, Neutrophilia, Liver abscess, Abdominal pain, Diarrhea, Weight loss, Abnormal testi...	ORPHA:54251
Tetraamelia-Multiple Malformations Syndrome	Abnormally ossified vertebrae, Cataract, Missing ribs, Cryptorchidism, Abnormal rib morphology, O...	ORPHA:3301
Lipodystrophy, Familial Partial, Type 7	Lack of facial subcutaneous fat, Vomiting, Sparse hair, Decreased adipose tissue around neck, Abs...	OMIM:606721
Surfactant Metabolism Dysfunction, Pulmonary, 2	Respiratory distress, Nonspecific interstitial pneumonia, Spontaneous pneumothorax, Reduced force...	OMIM:610913
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis	Mild postnatal growth retardation, Iridocyclitis, Knee osteoarthritis, Oligoarthritis, Flexion co...	ORPHA:85408
Campomelic Dysplasia	11 pairs of ribs, Poorly ossified cervical vertebrae, Short stature, Kyphosis, Hip dislocation, C...	ORPHA:140
Orofaciodigital Syndrome Iii	Hyperconvex nail, Kyphosis, Supernumerary tooth, Tongue nodules, Short sternum, Microdontia, Bifi...	OMIM:258850
Aicardi-Goutieres Syndrome 9	Hemolytic anemia, Acute pancreatitis, Pericarditis, Recurrent urinary tract infections, Chilblain...	OMIM:619487
Polycystic Liver Disease 1 With Or Without Kidney Cysts	Dyspnea, Abdominal distention	OMIM:174050
Paroxysmal Hemicrania	Nausea and vomiting, Diabetes mellitus, Palpebral edema, Rhinorrhea, Rhinitis, Conjunctival hyper...	ORPHA:157835
O'Sullivan-Mcleod Syndrome	Increased circulating antibody level, Eosinophilia	ORPHA:99965
Liver Disease, Severe Congenital	Chronic gastritis, Dry hair, Sepsis, Leukopenia, Protein-losing enteropathy, Lymphocytosis, Vomit...	OMIM:619991
Okur-Chung Neurodevelopmental Syndrome	Thin upper lip vermilion, Epicanthus, Inguinal hernia, Highly arched eyebrow, Protruding tongue, ...	OMIM:617062
Cystic Echinococcosis	Abdominal symptom, Invasive parasitic infection, Eosinophilia, Abscess, Unusual infection, Abnorm...	ORPHA:400
Combined Oxidative Phosphorylation Deficiency 53	Osteomyelitis, Short stature, Abdominal distention, Hypochromic microcytic anemia, Arthritis, Sep...	OMIM:619423
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Sideroblastic anemia, Brittle hair, Splenomegaly, Schistocytosis, Hypochromic microcytic anemia, ...	OMIM:616084
Nephrotic Syndrome, Type 1	Neonatal respiratory distress, Small for gestational age, Pyloric stenosis, Abdominal distention,...	OMIM:256300
Oromandibular Dystonia	Respiratory distress, Weight loss, Blepharospasm, Abnormal lip morphology, Dysphagia	ORPHA:93958
Dominant Beta-Thalassemia	Failure to thrive in infancy, Skin ulcer, Chronic hepatitis, Upslanted palpebral fissure, Growth ...	ORPHA:231226
9q subtelomeric deletion syndrome	Synophrys, Short nose, Protruding tongue	DECIPHER:52
Cowden Syndrome	Cataract, Generalized hyperkeratosis, Conjunctival hamartoma, Follicular thyroid carcinoma, Short...	ORPHA:201
Vipoma	Anorexia, Poor appetite, Secretory diarrhea, Follicular thyroid carcinoma, Episodic abdominal pai...	ORPHA:97282
Spondyloepimetaphyseal Dysplasia, Shohat Type	Lumbar hyperlordosis, Splenomegaly, Abdominal distention, Genu varum, Platyspondyly, Thin vermili...	OMIM:602557
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency	Alopecia	OMIM:210210
Phakomatosis Pigmentokeratotica	Melanocytic nevus, Linear nevus sebaceous, Patchy alopecia, Blue nevus, Nevus spilus	ORPHA:2874
Akt2-Related Familial Partial Lipodystrophy	Lipodystrophy, Decreased adiponectin level, Decreased serum leptin, Insulin-resistant diabetes me...	ORPHA:79085
Aicardi-Goutieres Syndrome 7	Atrophic gastritis, Bloody diarrhea, Hypothyroidism, Hemolytic anemia, Chilblains, Hepatitis, Hem...	OMIM:615846
Familial Glucocorticoid Deficiency	Decreased circulating cortisol level, Anorexia, Vomiting, Leydig cell neoplasia, Impaired cortiso...	ORPHA:361
Cryptococcosis	Respiratory distress, Osteomyelitis, Lymphoid leukemia, Pneumonia, Dyspnea, Peritonitis, Meningit...	ORPHA:1546
Ahdc1-Related Intellectual Disability-Obstructive Sleep Apnea-Mild Dysmorphism Syndrome	Respiratory failure requiring assisted ventilation, Craniosynostosis, Upper airway obstruction, F...	ORPHA:412069
Mast Cell Sarcoma	Weight loss	ORPHA:66661
Loeffler Endocarditis	Pericarditis, Eosinophilia, Dyspnea, Weight loss, Cough	ORPHA:75566
Wrinkly Skin Syndrome	Congenital hip dislocation, High palate, Microdontia, Sparse hair, Short stature, Cryptorchidism,...	OMIM:278250
Cousin Syndrome	Rhizomelia, Humeroradial synostosis, Low anterior hairline, Alveolar ridge overgrowth, Cleft pala...	OMIM:260660
Unilateral Ocular Duplication	Abnormal eyebrow morphology, Median cleft lip, Abnormal pupil morphology, Cleft palate, Microcorn...	ORPHA:3374
Hypercalcemia, Infantile, 1	Failure to thrive, Weight loss	OMIM:143880
Distal Deletion 15Q	Thin upper lip vermilion, Decreased serum insulin-like growth factor 1, Failure to thrive, Small ...	ORPHA:1596
Simple Cryoglobulinemia	Purpura, Monoclonal elevation of circulating IgA, Monoclonal immunoglobulin M proteinemia, Parapr...	ORPHA:91139
Contractures-Developmental Delay-Pierre Robin Syndrome	Inguinal hernia, Thoracolumbar scoliosis, High, narrow palate, Cleft palate, Glossoptosis, Wrist ...	ORPHA:436003
Blau Syndrome	Pericarditis, Cataract, Skin rash, Camptodactyly of finger, Keratitis, Retrobulbar optic neuritis...	ORPHA:90340
Premature Ovarian Failure 13	Amenorrhea, Elevated circulating follicle stimulating hormone level, Female infertility, Oligomen...	OMIM:617442
Erdheim-Chester Disease	Nausea and vomiting, Osteomyelitis, Skin rash, Hypogonadotropic hypogonadism, Abdominal pain, Dys...	ORPHA:35687
Congenital Pancreatic Cyst	Anorexia, Abdominal pain, Abdominal distention, Vomiting, Pancreatitis	ORPHA:313906
Congenital Diaphragmatic Hernia	Respiratory distress, Intestinal malrotation, Congenital diaphragmatic hernia, Hypoxemia	ORPHA:2140
Neuropathy, Hereditary Sensory And Autonomic, Type Iia	Episodic hyperhidrosis, Paronychia, Anhidrosis, Acral ulceration	OMIM:201300
Osteootohepatoenteric Syndrome	Ileoileal intussusception, Villous atrophy, Increased intestinal transit time, Abdominal pain, Pr...	OMIM:619377
Chronic Pneumonitis Of Infancy	Respiratory distress, Intercostal retractions, Reduced forced vital capacity, Tachypnea, Hypoxemi...	ORPHA:91359
Distal Deletion 12Q	High, narrow palate, Short stature, Esophageal atresia, Supernumerary tooth, Obesity, Small nail,...	ORPHA:96149
Peripheral Primitive Neuroectodermal Tumor	Nausea and vomiting, Metrorrhagia, Anorexia, Precocious puberty, Abdominal distention, Pruritus, ...	ORPHA:370348
Primary Effusion Lymphoma	Dyspnea, Pleural effusion, Abdominal distention, Abdominal pain	ORPHA:48686
Pallister-Hall Syndrome	Bifid epiglottis, Adrenal hypoplasia, Large for gestational age, Gonadotropin deficiency, Hemiver...	ORPHA:672
Calciphylaxis	Skin ulcer, Cellulitis	ORPHA:280062
Charcot-Marie-Tooth Disease, Type 4C	Tongue atrophy, Tongue fasciculations, Scoliosis	OMIM:601596
Dysostosis Multiplex, Ain-Naz Type	Severe short stature, Abdominal distention, Hip dislocation, Hemivertebrae, Flat acetabular roof,...	OMIM:619345
Robinow Syndrome, Autosomal Dominant 1	Short lingual frenulum, Dental crowding, Orofacial cleft, Downturned corners of mouth, High palat...	OMIM:180700
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency	Short stature, Abdominal distention, Growth delay, Delayed puberty, Failure to thrive	ORPHA:369
Costello Syndrome	Limited elbow movement, High palate, Sparse hair, Deep-set nails, Short stature, Thin nail, Conca...	OMIM:218040
Leprechaunism	Reduced subcutaneous adipose tissue, Postnatal growth retardation, Abdominal distention, Rectal p...	ORPHA:508
White Sponge Nevus 2	Hyperparakeratosis, Epidermal acanthosis	OMIM:615785
Spondyloepiphyseal Dysplasia Congenita	Abnormally ossified vertebrae, Lumbar hyperlordosis, Limited elbow movement, Kyphosis, Disproport...	ORPHA:94068
Respiratory Distress Syndrome In Premature Infants	Respiratory distress, Dyspnea, Neonatal respiratory distress, Tachypnea	OMIM:267450
Renpenning Syndrome 1	Brittle hair, High palate, Short philtrum, Sparse hair, Short stature, Wide nasal bridge, Scolios...	OMIM:309500
Orofaciodigital Syndrome Type 5	Median cleft lip, Aganglionic megacolon, Cleft soft palate, Accessory oral frenulum, Abnormality ...	ORPHA:2919
X-Linked Alport Syndrome-Diffuse Leiomyomatosis	Dyspepsia, Recurrent respiratory infections, Cataract, Esophageal stenosis, Hypoperistalsis, Kera...	ORPHA:1018
Neuroblastoma, Susceptibility To, 1	Skin nodule, Failure to thrive, Horner syndrome, Weight loss	OMIM:256700
Aplasia Cutis Congenita With Intestinal Lymphangiectasia	Abnormal paranasal sinus morphology, Intestinal lymphangiectasia, Lymphopenia	OMIM:207731
Lipodystrophy, Familial Partial, Type 5	Lipodystrophy, Decreased adiponectin level, Decreased serum leptin, Irregular menstruation, Diabe...	OMIM:615238
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome	Short stature, Respiratory insufficiency, Glossoptosis, Blepharophimosis, Short nose, Ptosis	ORPHA:2031
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis	Diabetes mellitus, Small for gestational age, Rhizomelia, Abnormality of the dentition, Oligozoos...	OMIM:614813
Okamoto Syndrome	Tented upper lip vermilion, Downturned corners of mouth, Gastroesophageal reflux, Exaggerated med...	ORPHA:2729
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency	Dysmenorrhea, Decreased serum estradiol, Decreased circulating androgen concentration, Short stat...	ORPHA:90796
Sporadic Pheochromocytoma/Secreting Paraganglioma	Episodic hyperhidrosis, Hypertensive retinopathy, Pallor, Weight loss	ORPHA:276621
Hereditary Spherocytosis	Reticulocytosis, Spontaneous hemolytic crises, Extramedullary hematopoiesis, Maculopapular exanth...	ORPHA:822
Perry Syndrome	Weight loss	ORPHA:178509
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Recurrent respiratory infections, Inguinal hernia, Aganglionic megacolon, Malabsorption, White ha...	ORPHA:935
Neuropathy, Hereditary Sensory And Autonomic, Type Ia	Foot osteomyelitis, Cataract, Acral ulceration, Osteomyelitis	OMIM:162400
Interstitial Lung Disease 2	Increased circulating antibody level	OMIM:178500
3-Hydroxy-3-Methylglutaric Aciduria	Acute pancreatitis, Apnea, Anorexia, Reye syndrome-like episodes, Leukocytosis, Tachypnea, Diarrh...	ORPHA:20
Cerebellar, Ocular, Craniofacial, And Genital Syndrome	Laterally extended eyebrow, Synophrys, Low anterior hairline, Keratoconjunctivitis sicca, Long ey...	OMIM:618479
Surfactant Metabolism Dysfunction, Pulmonary, 3	Respiratory distress, Neonatal respiratory distress, Nonspecific interstitial pneumonia, Apnea, F...	OMIM:610921
Peroxisome Biogenesis Disorder 1A (Zellweger)	Epicanthus, Cataract, Neonatal respiratory distress, Adrenal hypoplasia, Protruding tongue, Brush...	OMIM:214100
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart	Smooth philtrum, Epicanthus, Lumbar hyperlordosis, Short stature, Cleft lip, Widow's peak, Crypto...	OMIM:616975
Leptospirosis	Respiratory distress, Nausea and vomiting, Pericarditis, Pharyngitis, Skin rash, Anorexia, Abdomi...	ORPHA:509
Complete Atrioventricular Septal Defect	Intercostal retractions, Crackles, Wheezing, Recurrent pneumonia, Tachypnea, Feeding difficulties...	ORPHA:1329
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset	Respiratory distress, Respiratory failure requiring assisted ventilation, Respiratory insufficien...	ORPHA:308552
Huntington Disease	Decreased body mass index, Weight loss	ORPHA:399
Attenuated Chédiak-Higashi Syndrome	Ocular albinism, Skin ulcer	ORPHA:352723
Cocaine Intoxication	Respiratory distress, Glomerulonephritis, Abdominal pain, Intestinal perforation, Hyperventilatio...	ORPHA:90068
Lacrimoauriculodentodigital Syndrome 1	Absent lacrimal punctum, Telecanthus, Hypoplastic lacrimal duct, Absence of Stensen duct, Hypopla...	OMIM:149730
Purine Nucleoside Phosphorylase Deficiency	Recurrent respiratory infections, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Abnor...	ORPHA:760
Gitelman Syndrome	Respiratory distress, Nausea and vomiting, Maternal diabetes, Abdominal pain, Diarrhea, Gout, Tub...	ORPHA:358
Somatostatinoma	Anorexia, Poor appetite, Lack of bowel sounds, Episodic abdominal pain, Increased circulating cor...	ORPHA:97283
Caroli Disease	Liver abscess, Cholangitis, Anorexia, Abdominal pain, Pruritus, Splenomegaly, Conjunctival icteru...	ORPHA:53035
Amoebiasis Due To Free-Living Amoebae	Abnormality of taste sensation, Unusual skin infection, Sinusitis, Pneumonia, Nausea, Pustule, Gr...	ORPHA:68
Fraser Syndrome 2	Intestinal malrotation, Abdominal distention, Rectal atresia, Low anterior hairline, Respiratory ...	OMIM:617666
Mohr Syndrome	Telecanthus, Median cleft lip, Short stature, Accessory oral frenulum, Cleft palate, Tongue nodul...	OMIM:252100
Huriez Syndrome	Congenital palmoplantar hyperkeratosis, Epidermal acanthosis, Nail dystrophy, Small nail	OMIM:181600
Adult Polyglucosan Body Disease	Skin ulcer	ORPHA:206583
Microphthalmia With Linear Skin Defects Syndrome	Respiratory distress, Failure to thrive, Severe short stature, Corneal opacity, Abnormal nasolacr...	ORPHA:2556
Trisomy 8Q	Camptodactyly of finger, Cryptorchidism, Non-midline cleft lip, Wide nasal bridge, Cleft palate, ...	ORPHA:1752
Subacute Inflammatory Demyelinating Polyneuropathy	Increased circulating IgG level, Leukocytosis	ORPHA:206594
Congenital Alveolar Capillary Dysplasia	Respiratory distress, Aganglionic megacolon, Intestinal malrotation, Asplenia, Tracheoesophageal ...	ORPHA:210122
Ablepharon-Macrostomia Syndrome	Absent eyebrow, Redundant skin, Absent eyelashes, Anteriorly placed anus, Hypoplastic nipples, Th...	OMIM:200110
Livedoid Vasculopathy	Superficial dermal perivascular inflammatory infiltrate, Recurrent skin infections, Skin ulcer, A...	ORPHA:542643
Focal Dermal Hypoplasia	Ridged nail, Congenital hip dislocation, Brittle hair, Congenital diaphragmatic hernia, Anteriorl...	OMIM:305600
Multiple Endocrine Neoplasia Type 2	Prominent corneal nerve fibers, Elevated circulating parathyroid hormone level, Pheochromocytoma,...	ORPHA:653
Alström Syndrome	Respiratory distress, Thoracic scoliosis, Abnormality of dental color, Decreased response to grow...	ORPHA:64
Neuroendocrine Tumor Of The Rectum	Anorexia, Bowel urgency, Abdominal pain, Lack of bowel sounds, Weight loss, Bloody diarrhea, Hema...	ORPHA:100081
Neuroendocrine Tumor Of Anal Canal	Anorexia, Bowel urgency, Abdominal pain, Lack of bowel sounds, Weight loss, Bloody diarrhea, Hema...	ORPHA:100082
Beta-Ketothiolase Deficiency	Anorexia, Leukocytosis, Tachypnea, Diarrhea, Weight loss, Vomiting, Cough, Thrombocytosis	ORPHA:134
Congenital Enterocyte Heparan Sulfate Deficiency	Protein-losing enteropathy, Weight loss	ORPHA:103910
Peritoneal Cystic Mesothelioma	Peritonitis, Weight loss	ORPHA:168816
Fructose-1,6-Bisphosphatase Deficiency	Respiratory distress, Intermittent hyperventilation, Episodic tachypnea, Dyspnea, Reye syndrome-l...	ORPHA:348
Yunis-Varon Syndrome	Sclerocornea, High, narrow palate, Broad secondary alveolar ridge, Glossoptosis, Short philtrum, ...	ORPHA:3472
Catel-Manzke Syndrome	Joint dislocation, Inguinal hernia, Cleft upper lip, Postnatal growth retardation, Narrow mouth, ...	OMIM:616145
Mercury Poisoning	Respiratory distress, Anorexia, Dyspnea, Episodic abdominal pain, Interstitial pneumonitis, Respi...	ORPHA:330021
Mitochondrial Complex Iv Deficiency, Nuclear Type 23	Hypoventilation, Inguinal hernia, Elbow contracture, Abdominal distention, Knee contracture, Feed...	OMIM:620275
Benign Recurrent Intrahepatic Cholestasis	Pancreatitis, Weight loss	ORPHA:65682
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Respiratory distress, Recurrent respiratory infections, Apnea, Flexion contracture, Orofacial cle...	ORPHA:17
Short-Rib Thoracic Dysplasia 21 Without Polydactyly	Neonatal respiratory distress, Trident pelvis, Short lingual frenulum, Flexion contracture, Wide ...	OMIM:619479
Huntington Disease-Like 1	Weight loss	ORPHA:157941
Sillence Syndrome	Epicanthus, Slender build, Flat acetabular roof, Platyspondyly, Scoliosis, Camptodactyly, Abnorma...	ORPHA:3168
Gastrointestinal Defects And Immunodeficiency Syndrome 2	Kyphosis, Interstitial emphysema, Bronchiectasis, Knee flexion contracture, Inflammation of the l...	OMIM:619708
Congenital Short Bowel Syndrome	Abnormal peristalsis, Projectile vomiting, Intestinal malrotation, Abdominal distention, Chronic ...	OMIM:615237
Rett Syndrome	Cholecystitis, Scoliosis, Increased serum leptin, Failure to thrive, Abnormal pattern of respiration	ORPHA:778
Ichthyosis, Congenital, Autosomal Recessive 7	Palmoplantar keratoderma, Epidermal acanthosis, Erythroderma	OMIM:615022
Adult-Onset Nemaline Myopathy	Paraproteinemia	ORPHA:171442
Adams-Oliver Syndrome 1	Aplasia cutis congenita on trunk or limbs, Alopecia, Supernumerary nipple, Cleft palate, Aplasia ...	OMIM:100300
Congenital Lobar Emphysema	Respiratory distress, Emphysema	ORPHA:1928
Polycythemia Vera	Gastrointestinal hemorrhage, Epistaxis, Pulmonary embolism, Abdominal pain, Splenomegaly, Pruritu...	ORPHA:729
Behcet Syndrome	Erythema, Patchy alopecia	OMIM:109650
Lambert-Eaton Myasthenic Syndrome	Keratoconjunctivitis sicca, Hypohidrosis, Xerostomia, Abnormality of the orbital region	ORPHA:43393
Epidermodysplasia Verruciformis, Susceptibility To, 5	T lymphocytopenia, Cryptococcal meningitis, Lymphopenia, Persistent human papillomavirus infection	OMIM:618309
Igg4-Related Ophthalmic Disease	Increased circulating IgE level, Eosinophilia, Increased circulating IgG4 level	ORPHA:449563
Xeroderma Pigmentosum-Cockayne Syndrome Complex	Short stature, Skin rash, Cachexia	ORPHA:220295
Beta-Thalassemia Major	Failure to thrive in infancy, Skin ulcer, Upslanted palpebral fissure, Growth delay, Pallor, Dela...	ORPHA:231214
Distal Limb Deficiencies-Micrognathia Syndrome	Short stature, Tarsal synostosis, Abnormality of the wrist, Cryptorchidism, Cleft palate, High pa...	ORPHA:1307
Vacterl Association, X-Linked, With Or Without Hydrocephalus	Esophageal atresia, Tracheoesophageal fistula, Laryngeal atresia, Neonatal death, Abnormal verteb...	OMIM:314390
Stüve-Wiedemann Syndrome	Respiratory distress, Apnea, Camptodactyly of finger, Short stature, Abnormality of the dentition...	ORPHA:3206
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)	Respiratory distress, Acute hepatic failure, Failure to thrive, Short stature, Reye syndrome-like...	OMIM:256810
Postinfectious Vasculitis	Anorexia, Severe varicella zoster infection, Recurrent candida infections, Gastrointestinal infla...	ORPHA:48435
Meckel Syndrome, Type 8	Abdominal distention, Short nose, Cleft palate, Cleft upper lip	OMIM:613885
Castleman Disease	Nausea and vomiting, Intestinal obstruction, Abdominal pain, Dyspnea, Abdominal distention, Weigh...	ORPHA:160
Angiostrongyliasis	Increased circulating IgA level, Hypereosinophilia, Increased circulating specific IgE antibody, ...	ORPHA:74
Hartnup Disease	Glossitis, Skin rash, Short stature, Malabsorption, Gingivitis, Infectious encephalitis	ORPHA:2116
Subcorneal Pustular Dermatosis	Erythema, Increased circulating antibody level	ORPHA:48377
Multiple Endocrine Neoplasia Type 1	Anorexia, Pituitary corticotropic cell adenoma, Pituitary gonadotropic cell adenoma, Pancreatic e...	ORPHA:652
Oculocerebrorenal Syndrome Of Lowe	Abnormal pupil morphology, Lentiglobus, Periodontitis, Chronic otitis media, Short stature, Abnor...	ORPHA:534
Hereditary Pheochromocytoma-Paraganglioma	Hypertensive retinopathy, Episodic hyperhidrosis, Weight loss, Pallor, Aniridia, Retinal capillar...	ORPHA:29072
Caffey Disease	Increased circulating antibody level	ORPHA:1310
Chylomicron Retention Disease	Acanthocytosis, Abdominal distention, Diarrhea, Growth delay, Vomiting, Steatorrhea, Fat malabsor...	ORPHA:71
Gracile Bone Dysplasia	Short stature, Asplenia, Thin ribs, Aniridia, Hypoplastic spleen, Failure to thrive, Ankyloglossia	OMIM:602361
Malakoplakia	Inflammatory abnormality of the skin, Skin rash, Orchitis, Urinary bladder inflammation, Subcutan...	ORPHA:556
Multiple Acyl-Coa Dehydrogenase Deficiency	Respiratory distress, Telecanthus, Developmental cataract, Vomiting, Neonatal death, Nausea	OMIM:231680
Zollinger-Ellison Syndrome	Hyperparathyroidism, Pituitary corticotropic cell adenoma, Multiple lipomas, Elevated circulating...	ORPHA:913
Woodhouse-Sakati Syndrome	Alopecia, Streak ovary, Premature ovarian insufficiency, Decreased response to growth hormone sti...	ORPHA:3464
Orofaciodigital Syndrome Iv	Epicanthus, Short stature, Hamartoma of tongue, Accessory oral frenulum, Cleft palate, Lobulated ...	OMIM:258860
Sympathetic Ophthalmia	Alopecia, Erythema, Poliosis	ORPHA:79098
Gonadoblastoma	Abdominal pain, Abdominal distention, Hirsutism, Increased serum testosterone level	ORPHA:206484
Seckel Syndrome 2	Small for gestational age, Short stature, Growth delay, Microdontia, Microglossia	OMIM:606744
Developmental And Epileptic Encephalopathy 31B	Protruding tongue, Almond-shaped palpebral fissure, Gingival overgrowth, Feeding difficulties, Co...	OMIM:620352
C3 Glomerulopathy	Paraproteinemia, Decreased circulating complement C3 concentration, Decreased circulating complem...	ORPHA:329918
Neuroendocrine Tumor Of The Colon	Anorexia, Bowel urgency, Abdominal pain, Lack of bowel sounds, Weight loss, Bloody diarrhea, Prot...	ORPHA:100080
Hyperimmunoglobulinemia D With Periodic Fever	Purpura, Erythema, Papule, Increased circulating IgA level	ORPHA:343
1Q21.1 Microdeletion Syndrome	Epicanthus, Cataract, Inguinal hernia, Short stature, Cryptorchidism, Wide nasal bridge, High pal...	ORPHA:250989
Simpson-Golabi-Behmel Syndrome, Type 1	Congenital diaphragmatic hernia, Vertebral segmentation defect, Exaggerated median tongue furrow,...	OMIM:312870
Immunoglobulin A Vasculitis	Episcleritis, Macule, Skin rash, Orchitis, Pustule, Erythema, Skin ulcer, Arthritis, Infectious e...	ORPHA:761
Primary Sclerosing Cholangitis	Acute hepatic failure, Recurrent systemic pyogenic infections, Abnormal eosinophil morphology, Ab...	ORPHA:171
Sarcoidosis, Susceptibility To, 1	Pancytopenia, Anorexia, Iridocyclitis, Splenomegaly, Emphysema, Enlarged lacrimal glands, Bronchi...	OMIM:181000
Cutis Laxa, Autosomal Recessive, Type Iic	Reduced subcutaneous adipose tissue, Entropion, Dental crowding, Short stature, Kyphoscoliosis, B...	OMIM:617402
Holzgreve Syndrome	Abnormally ossified vertebrae, Aplasia/Hypoplasia of the tongue, Abnormal rib morphology, Cleft p...	ORPHA:2167
Isotretinoin-Like Syndrome	Inguinal hernia, Postnatal growth retardation, Cleft palate, Feeding difficulties, Upslanted palp...	ORPHA:2306
Hirschsprung Disease, Susceptibility To, 1	Aganglionic megacolon, Abdominal distention, Enterocolitis, Constipation, Vomiting	OMIM:142623
Smith-Lemli-Opitz Syndrome	Dental crowding, Gastrointestinal dysmotility, Vomiting, Gastroesophageal reflux, Bifid uvula, Sh...	OMIM:270400
Congenital Gerbode Defect	Ankle swelling, Crackles, Dyspnea, Pulmonary arterial hypertension, Bacterial endocarditis, Const...	ORPHA:99095
Primary Hepatic Neuroendocrine Carcinoma	Anorexia, Nausea, Dyspnea, Abdominal distention, Diarrhea, Weight loss, Episodic abdominal pain, ...	ORPHA:100085
Charcot-Marie-Tooth Disease Type 4B2	Tongue atrophy, Cataract, Reduced vital capacity, Kyphoscoliosis, Respiratory insufficiency, Scol...	ORPHA:99956
Raine Syndrome	Natal tooth, Short stature, Highly arched eyebrow, Protruding tongue, Gingival overgrowth, Cleft ...	OMIM:259775
Neuropathy, Hereditary Sensory And Autonomic, Type V	Anhidrosis, Osteomyelitis, Osteoarthritis, Acral ulceration, Septic arthritis	OMIM:608654
Developmental And Epileptic Encephalopathy 68	Respiratory distress, Failure to thrive, Flexion contracture	OMIM:618201
Glycogen Storage Disease Ib	Short stature, Splenomegaly, Delayed puberty, Oral ulcer, Gout, Xanthelasma, Inflammation of the ...	OMIM:232220
Woodhouse-Sakati Syndrome	Decreased serum insulin-like growth factor 1, Diabetes mellitus, Hypogonadotropic hypogonadism, H...	OMIM:241080
Pitt-Hopkins-Like Syndrome 2	Protruding tongue, Feeding difficulties, Wide mouth, Constipation, Gastroesophageal reflux, Scoli...	OMIM:614325
Cornelia De Lange Syndrome	Congenital diaphragmatic hernia, Feeding difficulties in infancy, Synophrys, Low anterior hairlin...	ORPHA:199
Orofaciodigital Syndrome Vi	11 pairs of ribs, Epicanthus, Failure to thrive, Short stature, Hamartoma of tongue, Accessory or...	OMIM:277170
Spinocerebellar Ataxia Type 36	Tongue atrophy, Bowel incontinence, Tongue fasciculations, Dysphagia, Ptosis	ORPHA:276198
Body Mass Index Quantitative Trait Locus 19	Hyperinsulinemia, Obesity, Increased serum leptin	OMIM:617885
Infant Acute Respiratory Distress Syndrome	Pneumonia, Nasal flaring, Tachypnea, Sepsis, Hypoxemia, Respiratory failure	ORPHA:70587
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome	Glossoptosis, Rhizomelia, Upper airway obstruction, Cleft palate	ORPHA:440354
Osteosarcoma	Weight loss	ORPHA:668
Classic Pantothenate Kinase-Associated Neurodegeneration	Aspiration pneumonia, Weight loss	ORPHA:216866
Endocrine-Cerebroosteodysplasia	Natal tooth, Median cleft lip, Bilateral cleft lip, Adrenal hypoplasia, Laryngeal hypoplasia, Cry...	OMIM:612651
Vascular Ehlers-Danlos Syndrome	Joint dislocation, Congenital hip dislocation, High, narrow palate, Osteoarthritis, Abnormal pupi...	ORPHA:286
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Natal tooth, Esophageal diverticulum, Hamartoma of tongue, Laryngeal hypoplasia, Cleft lip, Cleft...	OMIM:617925
Secondary Intestinal Lymphangiectasia	Intestinal obstruction, Abdominal colic, Intestinal lymphedema, Malabsorption, Celiac disease, Ch...	ORPHA:90363
Glucose/Galactose Malabsorption	Malabsorption, Abdominal distention, Hyperactive bowel sounds, Chronic diarrhea, Failure to thrive	OMIM:606824
Faciocardiomelic Dysplasia, Lethal	Neonatal death, Microglossia, Small for gestational age, Narrow mouth	OMIM:227270
Carney Complex	Neoplasm of the stomach, Increased body weight, Thyroid carcinoma, Papillary thyroid carcinoma, L...	ORPHA:1359
Achondrogenesis, Type Ia	Protruding tongue, Beaded ribs, Disproportionate short-trunk short stature, Stillbirth, Short rib...	OMIM:200600
Budd-Chiari Syndrome	Intestinal obstruction, Malabsorption, Peritonitis, Esophageal varix, Weight loss, Cholecystitis	ORPHA:131
Herpes Simplex Virus Encephalitis	Nausea and vomiting, Respiratory failure requiring assisted ventilation, Leukocytosis, Neutrophilia	ORPHA:1930
Meckel Syndrome, Type 1	Adrenal hypoplasia, Asplenia, Lobulated tongue, Iris coloboma, Accessory spleen, Cleft upper lip,...	OMIM:249000
Tropical Endomyocardial Fibrosis	Orthopnea, Eosinophilia, Cachexia, Dyspnea, Splenomegaly, Malnutrition, Pulmonary venous hyperten...	ORPHA:75565
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1	Short stature, Submucous cleft hard palate, Laryngomalacia, Laryngeal web, Bifid uvula, Butterfly...	OMIM:617660
Dystonia-Aphonia Syndrome	Abnormal vocal cord morphology, Gingival overgrowth, Macroglossia, Dysphagia, Difficulty in tongu...	ORPHA:412217
Lymphatic Malformation 7	Respiratory distress, Abdominal distention, Chylothorax, Pleural effusion, Anemia	OMIM:617300
Catastrophic Antiphospholipid Syndrome	Retinal arterial occlusion, Myocarditis, Skin ulcer, Arthritis	ORPHA:464343
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly	Joint dislocation, Rhizomelia, Thoracolumbar scoliosis, Ovoid vertebral bodies, Hyperlordosis, Th...	OMIM:618019
Joubert Syndrome 1	Central apnea, Epicanthus, Episodic tachypnea, Highly arched eyebrow, Protruding tongue, Macroglo...	OMIM:213300
X-Linked Dystonia-Parkinsonism	Protruding tongue, Blepharospasm, Aspiration pneumonia, Impaired oropharyngeal swallow response, ...	ORPHA:53351
Branchiooculofacial Syndrome	Premature graying of hair, Gastroesophageal reflux, Sparse hair, Ectopic thymus tissue, Iris colo...	OMIM:113620
Telo2-Related Intellectual Disability-Neurodevelopmental Disorder	Hip contracture, Short stature, Kyphoscoliosis, Hypoplastic toenails, Cleft palate, Knee flexion ...	ORPHA:488642
Anemia, Congenital Dyserythropoietic, Type Iv	Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti...	OMIM:613673
Nephroblastoma	Aniridia, Weight loss	ORPHA:654
Congenital Disorder Of Deglycosylation 1	Respiratory distress, Recurrent respiratory infections, Corneal opacity, Oral-pharyngeal dysphagi...	OMIM:615273
Hypoglossia-Hypodactyly Syndrome	Telecanthus, Jejunal atresia, Aplasia/Hypoplasia of the tongue, Abnormal fingernail morphology, F...	ORPHA:989
Neuroocular Syndrome	Brittle hair, Genu recurvatum, Synophrys, Lens coloboma, Microcornea, Downturned corners of mouth...	OMIM:619539
Norrie Disease	Aplasia/Hypoplasia of the lens, Corneal opacity, Cataract, Sclerocornea, Ectopia lentis, Abnormal...	ORPHA:649
Igg4-Related Retroperitoneal Fibrosis	Normocytic anemia, Nausea and vomiting, Deep dermal perivascular inflammatory infiltrate, Psorias...	ORPHA:49041
Palmoplantar Keratoderma, Punctate Type Ia	Orthokeratosis, Punctate palmoplantar hyperkeratosis, Epidermal acanthosis	OMIM:148600
Fatal Familial Insomnia	Hyperhidrosis, Weight loss	OMIM:600072
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities	Thin upper lip vermilion, Epicanthus, Telecanthus, Eczema, Asthma, Recurrent pneumonia, Wide nasa...	OMIM:620330
Medullary Thyroid Carcinoma	Hyperhidrosis, Weight loss	ORPHA:1332
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence	Submucous cleft hard palate, Downslanted palpebral fissures, Posteriorly placed tongue, Pierre-Ro...	OMIM:192445
Ulbright-Hodes Syndrome	Respiratory distress, Maternal diabetes, Postnatal growth retardation, Cryptorchidism, Humeroradi...	ORPHA:3404
Spinocerebellar Ataxia 36	Tongue atrophy, Tongue fasciculations, Dysphagia, Ptosis	OMIM:614153
Thrombotic Thrombocytopenic Purpura, Hereditary	Respiratory distress, Reticulocytosis, Schistocytosis, Microangiopathic hemolytic anemia, Thrombo...	OMIM:274150
Primrose Syndrome	Bilateral cryptorchidism, Synophrys, Flexion contracture, Knee flexion contracture, Downturned co...	OMIM:259050
Rheumatoid Arthritis	Rheumatoid arthritis, Weight loss	OMIM:180300
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome	Intestinal malrotation, Hiatus hernia, Nail dysplasia, Sparse hair, Preauricular skin tag, Volvulus	OMIM:616682
Charcot-Marie-Tooth Disease Type 4C	Hypoventilation, Tongue atrophy, Respiratory insufficiency, Anisocoria, Tongue fasciculations, Sc...	ORPHA:99949
Neuromuscular Oculoauditory Syndrome	Respiratory distress, Epicanthus, Knee flexion contracture, Aspiration, Wrist flexion contracture	OMIM:618733
Familial Pancreatic Carcinoma	Nausea and vomiting, Diabetes mellitus, Intestinal pseudo-obstruction, Functional intestinal obst...	ORPHA:1333
Cerebrocostomandibular Syndrome	Neonatal respiratory distress, Short stature, Kyphosis, Posterior rib gap, Cleft palate, Feeding ...	ORPHA:1393
Thyrotoxic Periodic Paralysis, Susceptibility To, 1	Weight loss	OMIM:188580
Multiple Epiphyseal Dysplasia Type 5	Osteoarthritis of the small joints of the hand, Abnormal acetabulum morphology, Multiple small ve...	ORPHA:93311
Ppoma	Anorexia, Poor appetite, Lack of bowel sounds, Episodic abdominal pain, Increased circulating cor...	ORPHA:97278
Leukocyte Adhesion Deficiency, Type I	Osteomyelitis, Skin ulcer, Chronic mucocutaneous candidiasis, Rectal abscess, Periodontitis	OMIM:116920
Cystinosis, Nephropathic	Male infertility, Hypopigmentation of hair, Diabetes mellitus, Failure to thrive in infancy, Shor...	OMIM:219800
Polyembryoma	Abnormal circulating gonadotropin concentration, Isosexual precocious puberty, Abdominal pain, Ab...	ORPHA:180229
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Short stature, Intestinal malrotation, Hamartoma of tongue, Cleft upper lip, Cleft palate, Short ...	OMIM:613091
Platyspondylic Dysplasia, Torrance Type	Abdominal distention, Abnormal carpal morphology, Cleft palate, Platyspondyly, Disproportionate s...	ORPHA:85166
Junctional Epidermolysis Bullosa With Pyloric Atresia	Nausea and vomiting, Recurrent skin infections, Oral mucosal blisters, Urinary bladder inflammati...	ORPHA:79403
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome	Kyphoscoliosis, Protruding tongue, Contractures of the large joints, Everted lower lip vermilion,...	ORPHA:324410
Genitopatellar Syndrome	Delayed eruption of teeth, Hip contracture, Anal stenosis, Congenital hip dislocation, Sparse sca...	OMIM:606170
Ring Chromosome 13 Syndrome	Alopecia, Cafe-au-lait spot, High palate, Anal atresia	ORPHA:96176
Thyrotoxic Periodic Paralysis, Susceptibility To, 2	Weight loss	OMIM:613239
Pyomyositis	Recurrent cutaneous abscess formation, Myositis, Leukocytosis, Sepsis, Weight loss, Recurrent inf...	ORPHA:764
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome	Respiratory distress, Sparse scalp hair, Neonatal respiratory distress, Recurrent respiratory inf...	OMIM:614748
Heterotaxy, Visceral, 1, X-Linked	Omphalocele, Respiratory distress, Congenital hip dislocation, Block vertebrae, Asplenia, Posteri...	OMIM:306955
Blomstrand Lethal Chondrodysplasia	Natal tooth, Telecanthus, Cataract, Rhizomelia, Protruding tongue, Platyspondyly, Neonatal short-...	ORPHA:50945
Grfoma	Anorexia, Poor appetite, Neoplasm of the thymus, Lack of bowel sounds, Pheochromocytoma, Episodic...	ORPHA:97261
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome	Respiratory distress, Neonatal insulin-dependent diabetes mellitus, Intestinal malrotation, Conge...	ORPHA:2255
Ileal Neuroendocrine Tumor	Intestinal fistula, Functional intestinal obstruction, Gastrointestinal obstruction, Weight loss,...	ORPHA:100078
Scalp-Ear-Nipple Syndrome	Delayed eruption of teeth, Telecanthus, Cataract, Palpebral edema, Abnormal fingernail morphology...	ORPHA:2036
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9	Respiratory distress, Neonatal respiratory distress, Apnea, Feeding difficulties, Hypopnea, Vomit...	OMIM:618426
X-Linked Acrogigantism	Decreased thyroid-stimulating hormone level, Enlarged pituitary gland, Increased body mass index,...	ORPHA:300373
Seborrhea-Like Dermatitis With Psoriasiform Elements	Hyperkeratosis, Epidermal acanthosis, Seborrheic dermatitis	OMIM:610227
Gaucher Disease Type 1	Pancytopenia, Hypersplenism, Splenomegaly, Anemia, Leukopenia, Increased circulating antibody lev...	ORPHA:77259
Ovarian Hyperstimulation Syndrome	Nausea and vomiting, Abdominal pain, Abdominal distention, Increased circulating gonadotropin lev...	ORPHA:64739
Poirier-Bienvenu Neurodevelopmental Syndrome	Downturned corners of mouth, Open mouth, Smooth philtrum, Protruding tongue	OMIM:618732
Malt Lymphoma	Nausea and vomiting, Recurrent respiratory infections, Abnormal nasolacrimal system morphology, A...	ORPHA:52417
Histiocytoid Cardiomyopathy	Corneal opacity, Tachypnea, Cleft palate, Vomiting, Cough, Laryngeal web, Megalocornea, Failure t...	ORPHA:137675
Vocal Cord And Pharyngeal Distal Myopathy	Abnormal morphology of musculature of pharynx, Respiratory insufficiency due to muscle weakness, ...	ORPHA:600
Neurocardiofaciodigital Syndrome	Cataract, Small for gestational age, Short stature, Sclerocornea, Sparse eyebrow, Narrow palpebra...	OMIM:619869
Keutel Syndrome	Sinusitis, Calcification of the auricular cartilage, Cartilaginous ossification of larynx, Costal...	OMIM:245150
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type	Omphalocele, Epicanthus, Cataract, Bifid epiglottis, Cleft upper lip, Esophageal atresia, Abdomin...	ORPHA:93271
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis	Abnormally low T cell receptor excision circle level, Macrocytic anemia, Neutrophilia, Leukocytos...	OMIM:608203
Beta-Thalassemia Intermedia	Pallor, Skin ulcer	ORPHA:231222
Xia-Gibbs Syndrome	Upslanted palpebral fissure, Laryngomalacia, Failure to thrive, Downslanted palpebral fissures, P...	OMIM:615829
Congenital Disorder Of Glycosylation, Type Iiw	Inguinal hernia, Membranoproliferative glomerulonephritis, Microcytic anemia, Splenomegaly, Super...	OMIM:619525
Familial Thrombocytosis	Acute myeloid leukemia, Pruritus, Splenomegaly, Chronic myelogenous leukemia, Weight loss, Pulmon...	ORPHA:71493
Wilson Disease	Hypoparathyroidism, Hemolytic anemia, Acute hepatic failure, Thrombocytopenia, Osteoarthritis, At...	OMIM:277900
Eisenmenger Syndrome	Respiratory distress, Brain abscess, Increased pulmonary vascular resistance, Abdominal distentio...	ORPHA:97214
Perry Syndrome	Weight loss	OMIM:168605
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Median cleft lip, Intestinal malrotation, Hamartoma of tongue, Cleft palate, Platyspondyly, Hypop...	OMIM:263520
Congenital Tracheal Stenosis	Respiratory distress, Abnormal stomach morphology, Neonatal asphyxia, Dyspnea, Wheezing, Tracheoe...	ORPHA:141127
Lethal Faciocardiomelic Dysplasia	Intrauterine growth retardation, Microglossia, Narrow mouth	ORPHA:1972
Roberts-Sc Phocomelia Syndrome	Knee flexion contracture, Eyelid coloboma, High palate, Shallow orbits, Sparse hair, Wrist flexio...	OMIM:268300
Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1	Tented upper lip vermilion, Widely-spaced maxillary central incisors, High palate, Vomiting, Gast...	OMIM:309580
Wild Type Attr Amyloidosis	Weight loss	ORPHA:330001
Thyroid Hypoplasia	Short stature, Abdominal distention, Growth delay, Macroglossia, Constipation, Hypothyroidism, Th...	ORPHA:95720
Pmm2-Cdg	Respiratory distress, Multiple joint contractures, Elevated circulating thyroid-stimulating hormo...	ORPHA:79318
Lynch Syndrome	Intestinal polyposis, Malabsorption, Flexion contracture, Weight loss, Neoplasm of the rectum, Co...	ORPHA:144
Melkersson-Rosenthal Syndrome	Macroglossia, Inflammatory abnormality of the skin, Cheilitis, Furrowed tongue	ORPHA:2483
Parkinson Disease 4, Autosomal Dominant	Weight loss	OMIM:605543
Acquired Central Diabetes Insipidus	Weight loss	ORPHA:95626
Glucose-Galactose Malabsorption	Failure to thrive, Weight loss	ORPHA:35710
Candidiasis, Familial, 8	Seborrheic dermatitis, Cheilitis, Macroglossia, Chronic oral candidiasis, Blepharitis	OMIM:615527
Scleromyxedema	Skin-colored papule, Paraproteinemia, Papule	ORPHA:167635
Ovarian Dysgenesis 3	Female infertility, Elevated circulating luteinizing hormone level, Primary amenorrhea, Elevated ...	OMIM:614324
Pulmonary Alveolar Microlithiasis	Increased pulmonary vascular resistance, Nonproductive cough, Dyspnea, Tachypnea, Pneumothorax, B...	ORPHA:60025
Ovarian Fibroma	Odontogenic keratocysts of the jaw, Abdominal pain, Abdominal distention, Peritonitis, Pleural ef...	ORPHA:314473
Familial Colorectal Cancer Type X	Malabsorption, Flexion contracture, Weight loss, Neoplasm of the rectum, Neoplasm of the colon, S...	ORPHA:440437
Exercise-Induced Malignant Hyperthermia	Crackles, Tachypnea, Vomiting, Decreased liver function, Hypocapnia, Hepatic failure, Nausea, Thr...	ORPHA:466650
Tetraamelia Syndrome 2	Absent nipple, Bilateral cleft lip, Cleft palate, Glossoptosis, Ankyloglossia	OMIM:618021
Charcot-Marie-Tooth Disease Type 1F	Tongue atrophy, Flexion contracture of finger, Scoliosis	ORPHA:101085
Familial Visceral Myopathy	Hyperparathyroidism, Aganglionic megacolon, Camptodactyly of finger, Abdominal distention, Cleft ...	ORPHA:2604
Visceral Myopathy, Familial, With External Ophthalmoplegia	Spontaneous esophageal perforation, Gastroparesis, Abdominal pain, Abdominal distention, Malnutri...	OMIM:277320
Inflammatory Pseudotumor Of The Liver	Diabetes mellitus, Abdominal pain, Abdominal distention, Weight loss, Vomiting, Nausea	ORPHA:90003
Parkes Weber Syndrome	Erythematous plaque, Capillary malformation, Scaling skin, Skin ulcer	ORPHA:90307
Currarino Syndrome	Anal stenosis, Hemisacrum, Recurrent urinary tract infections, Perianal abscess, Gastrointestinal...	OMIM:176450
Isolated Permanent Neonatal Diabetes Mellitus	Bilateral ptosis, Weight loss, Lower-limb joint contracture, Arthrogryposis multiplex congenita, ...	ORPHA:99885
Loeys-Dietz Syndrome 6	Knee osteoarthritis, High palate, Scoliosis, Hip osteoarthritis, Intervertebral disc degeneration	OMIM:619656
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis	Decreased circulating cortisol level, Hemivertebrae, Anteriorly placed anus, Decreased circulatin...	OMIM:201750
Cleft Lip/Palate-Intestinal Malrotation-Cardiopathy Syndrome	Upslanted palpebral fissure, Bifid tongue, Intestinal malrotation, Bilateral cleft lip and palate	ORPHA:2001
Mevalonic Aciduria	Normocytic hypoplastic anemia, Fluctuating splenomegaly, Thrombocytopenia, Leukocytosis, Hepatosp...	OMIM:610377
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z	Flexion contracture of finger, Cataract, Tongue atrophy, Respiratory insufficiency due to muscle ...	ORPHA:466768
Charge Syndrome	Decreased response to growth hormone stimulation test, Gonadotropin deficiency, Hemivertebrae, Pa...	OMIM:214800
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies	Vertebral fusion, Inguinal hernia, Block vertebrae, Missing ribs, Abdominal distention, Hemiverte...	OMIM:271520
Calcific Aortic Disease With Immunologic Abnormalities, Familial	Increased circulating antibody level	OMIM:114065
Down Syndrome	Epicanthus, Aganglionic megacolon, Short stature, Protruding tongue, Brushfield spots, Duodenal s...	OMIM:190685
Chand Syndrome	Curly hair, Cleft palate, Ankyloblepharon, Agenesis of permanent teeth, Abnormal oral frenulum mo...	ORPHA:1401
Parathyroid Carcinoma	Nausea and vomiting, Peptic ulcer, Testicular neoplasm, Primary hyperparathyroidism, Abnormal par...	ORPHA:143
Autoimmune Hepatitis	Splenomegaly, Increased circulating IgG level, Increased circulating antibody level	ORPHA:2137
Phacoanaphylactic Uveitis	Anterior uveitis, Keratitis, Abnormal pupil morphology, Abnormal corneal endothelium morphology, ...	ORPHA:209959
Renal Nutcracker Syndrome	Dyspareunia, Dysmenorrhea, Abdominal pain, Weight loss, Infertility, Nausea, Anemia	ORPHA:71273
Glycogen Storage Disease Of Heart, Lethal Congenital	Respiratory distress, Cataract, Apnea, Feeding difficulties, Macroglossia, Pleural effusion	OMIM:261740
Carney-Stratakis Syndrome	Gastrointestinal stroma tumor, Intestinal obstruction, Weight loss	ORPHA:97286
Bilateral Perisylvian Polymicrogyria	Ectopic posterior pituitary, Apnea, Protruding tongue, Flexion contracture, Feeding difficulties,...	ORPHA:98889
Hypomandibular Faciocranial Dysostosis	Pursed lips, Coronal craniosynostosis, Aglossia	OMIM:241310
Goodpasture Syndrome	Glomerulonephritis, Crackles, Increased DLCO, Tachypnea, Weight loss, Restrictive ventilatory def...	OMIM:233450
Neuropathy, Hereditary Sensory, With Spastic Paraplegia, Autosomal Recessive	Foot osteomyelitis, Acral ulceration	OMIM:256840
Ataxia, Intention Tremor, And Hypotonia Syndrome, Childhood-Onset	Chronic constipation, Ankyloglossia, Scoliosis	OMIM:619352
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures	Apnea, Protruding tongue	OMIM:619580
Primary Peritoneal Carcinoma	Nausea and vomiting, Abdominal pain, Abdominal distention, Peritonitis, Constipation	ORPHA:168829
Ethylene Glycol Poisoning	Gastritis, Nausea, Tachypnea, Episodic respiratory distress, Vomiting, Abnormal pattern of respir...	ORPHA:31826
Acute Intermittent Porphyria	Nausea and vomiting, Abdominal pain, Abdominal distention, Diarrhea, Ileus, Respiratory insuffici...	ORPHA:79276
Fanconi-Bickel Syndrome	Reduced subcutaneous adipose tissue, Poor appetite, Malabsorption, Postnatal growth retardation, ...	OMIM:227810
Epidermolysis Bullosa Simplex With Pyloric Atresia	Oral mucosal blisters, Scarring alopecia of scalp, Abdominal distention, Flexion contracture, Con...	ORPHA:158684
Primary Biliary Cholangitis	Abnormality of the thyroid gland, Celiac disease, Abdominal distention, Pruritus, Hepatitis, Gast...	ORPHA:186
Hydrolethalus Syndrome 1	Accessory spleen, Omphalocele, Median cleft lip, Laryngeal hypoplasia, Cleft palate, Stillbirth, ...	OMIM:236680
Adenocarcinoma Of The Anal Canal	Anal stenosis, Anal canal adenocarcinoma, Rectal prolapse, Skin ulcer, Neoplasm of the rectum, In...	ORPHA:424016
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)	Respiratory distress, Abdominal distention, Hepatic failure, Intrauterine growth retardation, Fai...	OMIM:617156
Tuberous Sclerosis Complex	Respiratory distress, Retinal astrocytic hamartoma, Retinal hamartoma, Pancreatic endocrine tumor...	ORPHA:805
Aneurysm-Osteoarthritis Syndrome	Osteoarthritis of the small joints of the hand, Inguinal hernia, Protrusio acetabuli, Camptodacty...	ORPHA:284984
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis	Weight loss, Cataract, Intestinal pseudo-obstruction, Ptosis	OMIM:607459
Glossopharyngeal Neuralgia	Oral-pharyngeal dysphagia, Odynophagia, Malnutrition, Weight loss, Feeding difficulties, Tongue p...	ORPHA:221098
Cardiogenic Shock	Hypoxemia, Dyspnea, Increased pulmonary capillary wedge pressure, Crackles	ORPHA:97292
Amyotrophic Lateral Sclerosis 21	Respiratory insufficiency due to muscle weakness, Aspiration, Bowing of the vocal cords, Dysphagia	OMIM:606070
Leukonychia Totalis	Abnormal eyelash morphology, Abnormal fingernail morphology, Blepharitis, Abnormal toenail morpho...	ORPHA:2387
Classic Progressive Supranuclear Palsy Syndrome	Blepharospasm, Conjunctival hyperemia	ORPHA:240071
Idiopathic Panuveitis	Conjunctival hyperemia, Cataract, Red eye, Posterior synechiae of the anterior chamber	ORPHA:280921
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 4	Recurrent respiratory infections, Recurrent urinary tract infections, Hypoperistalsis, Abdominal ...	OMIM:619365
Tubulointerstitial Nephritis And Uveitis Syndrome	Nongranulomatous uveitis, Anterior uveitis, Cataract, Skin rash, Intermediate uveitis, Red eye, W...	ORPHA:91500
Solitary Fibrous Tumor	Weight loss	ORPHA:2126
Alkaptonuria	Arthropathy, Vertebral fusion, Kyphosis, Arthritis, Limitation of knee mobility, Intervertebral d...	OMIM:203500
Mowat-Wilson Syndrome	Microcornea, Widely spaced teeth, Vomiting, Iris coloboma, Short stature, Cryptorchidism, Wide na...	OMIM:235730
Mitochondrial Dna-Associated Leigh Syndrome	Apnea, Dyspnea, Hepatic failure, Episodic respiratory distress, Dysphagia, Failure to thrive, Epi...	ORPHA:255210
Pseudoxanthoma Elasticum	Civatte bodies, Yellow papule, Cutis laxa	OMIM:264800
Cardiomyopathy, Familial Hypertrophic, 4	Respiratory distress, Dyspnea	OMIM:115197
Neurodegeneration And Seizures Due To Copper Transport Defect	Respiratory distress, Pneumothorax	OMIM:620306
Diarrhea 3, Secretory Sodium, Congenital, With Or Without Other Congenital Anomalies	Intestinal malrotation, Abdominal distention, Corneal erosion, Secretory diarrhea, Cleft palate, ...	OMIM:270420
Scimitar Syndrome	Respiratory distress, Recurrent respiratory infections, Pneumothorax, Hernia, Cough, Pulmonary ar...	ORPHA:185
Multiple Myeloma	Splenomegaly, Functional abnormality of the gastrointestinal tract, Weight loss, Pleural effusion...	ORPHA:29073
Loeys-Dietz Syndrome 3	Osteoarthritis, Knee osteoarthritis, High palate, Bifid uvula, Eosinophilic infiltration of the e...	OMIM:613795
Isolated Arrhinia	Respiratory distress, Eyelid coloboma, Absent nasal septal cartilage, Aplasia of the nose	ORPHA:1134
Thyroid Ectopia	Short stature, Abnormality of the thyroid gland, Abdominal distention, Growth delay, Macroglossia...	ORPHA:95712
Reynolds Syndrome	Gastrointestinal hemorrhage, Erythema nodosum, Splenomegaly, Pruritus, Lip telangiectasia, Steato...	OMIM:613471
Fanconi-Bickel Syndrome	Diabetes mellitus, Abdominal distention, Growth delay, Hepatic failure, Failure to thrive	ORPHA:2088
Gerstmann-Straussler Disease	Weight loss	OMIM:137440
Familial Hyperthyroidism Due To Mutations In Tsh Receptor	Small for gestational age, Weight loss	ORPHA:424
Cranio-Cervical Dystonia With Laryngeal And Upper-Limb Involvement	Blepharospasm, Abnormality of the larynx	ORPHA:420485
Klatskin Tumor	Weight loss	ORPHA:99978
Cleft Palate With Or Without Ankyloglossia, X-Linked	Ankyloglossia, Bifid uvula, Cleft palate	OMIM:303400
Diarrhea 1, Secretory Chloride, Congenital	Abdominal distention, Secretory diarrhea, Growth delay, Hyperactive renin-angiotensin system, Hyp...	OMIM:214700
Microvillus Inclusion Disease	Villous atrophy, Pruritus, Abdominal distention, Diarrhea, Abnormal small intestinal villus morph...	ORPHA:2290
Meckel Syndrome	Accessory spleen, Cataract, Aplasia/Hypoplasia of the tongue, Sclerocornea, Asplenia, Cryptorchid...	ORPHA:564
Liver Failure, Infantile, Transient	Acute hepatic failure, Feeding difficulties in infancy, Vomiting, Abdominal distention	OMIM:613070
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome	Omphalocele, Nausea and vomiting, Intestinal malrotation, Hypoperistalsis, Abdominal distention, ...	ORPHA:2241
Tick-Borne Encephalitis	Leukocytosis, Increased circulating IgG level, Increased circulating IgM level, Leukopenia, Abnor...	ORPHA:297
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2	Respiratory failure requiring assisted ventilation, Ileal atresia, Abdominal distention, Peritoni...	OMIM:619351
Colonic Atresia	Omphalocele, Peptic ulcer, Abdominal distention, Duodenal stenosis, Colonic atresia	ORPHA:1198
Visceral Myopathy 1	Intestinal pseudo-obstruction, Aganglionic megacolon, Gastroparesis, Abdominal pain, Pancreatitis...	OMIM:155310
Cirrhosis, Familial	Pulmonary arterial hypertension, Fulminant hepatitis, Esophageal varix, Abdominal distention	OMIM:215600
Gallbladder Neuroendocrine Tumor	Cholecystitis, Weight loss	ORPHA:100086
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)	Fulminant hepatic failure, Abdominal distention	OMIM:618528
Thyrotoxic Periodic Paralysis	Hyperhidrosis, Obesity, Weight loss	ORPHA:79102
Generalized Arterial Calcification Of Infancy	Respiratory distress, Abnormality of the knee, Calcification of the auricular cartilage, Failure ...	ORPHA:51608
Hereditary Fructose Intolerance	Cataract, Abdominal pain, Abdominal distention, Diarrhea, Growth delay, Vomiting, Constipation, C...	ORPHA:469
Hereditary Late-Onset Parkinson Disease	Weight loss	ORPHA:411602
Yellow Fever	Acute pancreatitis, Neutrophilia, Skin rash, Abdominal pain, Hematemesis, Leukocytosis, Diarrhea,...	ORPHA:99829
Tropical Pancreatitis	Chronic calcifying pancreatitis, Weight loss	ORPHA:103918
Rift Valley Fever	Increased circulating IgG level, Thrombocytopenia, Increased circulating IgM level, Anemia	ORPHA:319251
Familial Gestational Hyperthyroidism	Weight loss	ORPHA:99819
Benign Schwannoma	Intestinal polyposis, Nasal polyposis, Abnormality of the adrenal glands, Abnormal parotid gland ...	ORPHA:252164
Biliary, Renal, Neurologic, And Skeletal Syndrome	Recurrent respiratory infections, Inguinal hernia, Short stature, Anterior pituitary hypoplasia, ...	OMIM:619534
Encephalitis Lethargica	Increased circulating antibody level	ORPHA:83600
Meckel Syndrome 14	Abdominal distention, Protuberant abdomen, Pneumothorax, Cardiorespiratory arrest	OMIM:619879
Gaucher Disease Type 3	Pancytopenia, Splenomegaly, Anemia, Increased circulating antibody level, Thrombocytopenia	ORPHA:77261
Lysinuric Protein Intolerance	Thrombocytopenia, Decreased circulating antibody level, Hepatosplenomegaly, Abnormality of humora...	ORPHA:470
Ankyloglossia With Or Without Tooth Anomalies	Supernumerary tooth, Ankyloglossia	OMIM:106280
Split Cord Malformation	Tufted hairs, Penetrating foot ulcers, Skin dimple, Lipoma, Hypertrichosis	ORPHA:573278
Hypoglossia-Hypodactylia	Microglossia, Epicanthus, Aglossia, Narrow mouth	OMIM:103300
Aapoaiv Amyloidosis	Paraproteinemia	ORPHA:439232
Choreoacanthocytosis	Acanthocytosis, Abnormal erythrocyte enzyme level, Splenomegaly, Protruding tongue, Weight loss, ...	ORPHA:2388
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome	Increased circulating IgG level, Granuloma, Increased circulating IgM level	ORPHA:562639
Microphthalmia, Syndromic 6	Failure to thrive, Female hypogonadism, Adrenal hypoplasia, Sclerocornea, Cryptorchidism, Orbital...	OMIM:607932
Congenital Analbuminemia	Increased circulating antibody level	ORPHA:86816
Pancreatoblastoma	Weight loss	ORPHA:677
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3	Neonatal death, Abdominal distention, Sepsis, Microcolon	OMIM:619362
Pyknoachondrogenesis	Palpebral edema, Abdominal distention, Poorly ossified vertebrae, Abnormality of mouth shape, Sho...	ORPHA:3003
Metachromatic Leukodystrophy, Late Infantile Form	Feeding difficulties in infancy, Abdominal distention, Cholecystitis	ORPHA:309256
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2	Increased circulating antibody level	OMIM:606002
Aortic Arch Interruption	Respiratory distress, Feeding difficulties in infancy, Tachypnea, Exertional dyspnea	ORPHA:2299
Mirizzi Syndrome	Abdominal colic, Anorexia, Nausea, Abdominal pain, Abdominal distention, Vomiting, Pancreatitis	ORPHA:521219
Metachromatic Leukodystrophy, Adult Form	Abdominal distention, Cholecystitis, Bowel incontinence	ORPHA:309271
Metachromatic Leukodystrophy, Juvenile Form	Abdominal distention, Cholecystitis	ORPHA:309263
Primary Fanconi Renotubular Syndrome	Growth delay, Weight loss	ORPHA:3337
Gaucher Disease	Pancytopenia, Splenomegaly, Anemia, Increased circulating antibody level, Thrombocytopenia	ORPHA:355
Cysticercosis	Increased circulating antibody level	ORPHA:1560
Congenital Total Pulmonary Venous Return Anomaly	Respiratory distress, Respiratory failure requiring assisted ventilation, Recurrent respiratory i...	ORPHA:99125
Blistering, Acantholytic, Of Oral And Laryngeal Mucosa	Erosion of oral mucosa, Oral mucosal blisters	OMIM:619226
Atresia Of Urethra	Abdominal distention, Recurrent urinary tract infections	ORPHA:105

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 Dsg3

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 Dsg3.

No publications found that use IMPC mice or data for Dsg3.

Order Mouse and ES Cells

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

MGI Allele	Allele Type	Produced
Dsg3^{tm1e(EUCOMM)Hmgu}	Targeted, non-conditional allele	ES Cells
Dsg3^{tm1a(EUCOMM)Hmgu}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells

Sequence

Guides

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

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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