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Gene: Mpzl3 MGI:2442647

Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:

myelin protein zero-like 3

Synonyms:

rc, A530065I17Rik, 5430427F17Rik, ruf

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 Mpzl3 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 Mpzl3 (0 diseases)
Human diseases predicted to be associated with Mpzl3 (2100 diseases)

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

The table below shows human diseases predicted to be associated to Mpzl3 by phenotypic similarity.

Disease	Matching phenotypes	Source
Alopecia Areata 2	Alopecia of scalp, Patchy alopecia, Alopecia totalis, Alopecia universalis	OMIM:610753
Alopecia Totalis	Alopecia, Alopecia of scalp	ORPHA:700
Alopecia-Intellectual Disability Syndrome 1	Alopecia, Alopecia universalis	OMIM:203650
Alopecia Universalis Congenita	Absent eyebrow, Absent eyelashes, Absent pubic hair, Absent axillary hair, Alopecia universalis	OMIM:203655
Alopecia, Congenital	Sparse hair, Alopecia	OMIM:300042
Alopecia Universalis	Absent eyelashes, Absent eyebrow, Patchy alopecia, Alopecia universalis	ORPHA:701
Hypotrichosis Simplex	Sparse scalp hair, Alopecia, Sparse eyelashes, Sparse eyebrow, Sparse hair, Sparse body hair	ORPHA:55654
Hypotrichosis 4	Sparse scalp hair, Alopecia, Sparse eyelashes, Sparse eyebrow, Uncombable hair, Sparse body hair	OMIM:146550
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
Alopecia Areata 1	Trachyonychia, Alopecia totalis, Nail pits, Patchy alopecia, Alopecia universalis	OMIM:104000
Hypotrichosis 11	Sparse or absent eyelashes, Alopecia universalis, Absent axillary hair, Sparse hair, Aplasia/Hypo...	OMIM:615059
Trichothiodystrophy 7, Nonphotosensitive	Brittle hair, Ichthyosis, Congenital nonbullous ichthyosiform erythroderma, Follicular hyperkerat...	OMIM:618546
Perifolliculitis Capitis Abscedens Et Suffodiens, Familial	Alopecia, Alopecia of scalp	OMIM:260910
Erythrokeratodermia Variabilis Et Progressiva 5	Abnormal hair morphology, Hyperkeratosis, Onychogryposis, Palmoplantar hyperkeratosis	OMIM:617756
Ectodermal Dysplasia 6, Hair/Nail Type	Sparse hair, Alopecia, Thin toenail, Dystrophic toenail	OMIM:614928
Hidrotic Ectodermal Dysplasia	Slow-growing nails, Palmoplantar hyperkeratosis, Absent pubic hair, Sparse hair, Hyperkeratotic p...	ORPHA:189
Monilethrix	Alopecia, Brittle hair, Abnormality of hair texture, Perifollicular hyperkeratosis, Nail dystroph...	OMIM:158000
Graham Little-Piccardi-Lassueur Syndrome	Sparse pubic hair, Sparse scalp hair, Alopecia, Sparse axillary hair	ORPHA:505
Monilethrix	Abnormal eyebrow morphology, Brittle hair, Slow-growing hair, Abnormal eyelash morphology, Fine h...	ORPHA:573
Alopecia-Intellectual Disability-Hypergonadotropic Hypogonadism Syndrome	Alopecia totalis	ORPHA:1014
Hypotrichosis Simplex Of The Scalp	Abnormal eyebrow morphology, Sparse scalp hair, Parakeratosis, Absent facial hair, Allergic rhini...	ORPHA:90368
Olmsted Syndrome 1	Subungual hyperkeratosis, Parakeratosis, Pruritus, Hyperparakeratosis, Periorificial hyperkeratos...	OMIM:614594
Hypotrichosis 6	Brittle hair, Sparse eyelashes, Sparse eyebrow, Follicular hyperkeratosis, Sparse hair, Pili torti	OMIM:607903
Bathing Suit Ichthyosis	Alopecia, Parakeratosis, Multiple joint contractures, Thickened skin, Palmoplantar hyperkeratosis...	ORPHA:100976
Severe Combined Immunodeficiency Due To Foxn1 Deficiency	Ridged nail, Nail pits, Congenital alopecia totalis	ORPHA:169095
Ichthyosis, Annular Epidermolytic, 1	Abnormal hair morphology, Erythema, Hyperparakeratosis, Palmoplantar hyperkeratosis, Erythematous...	OMIM:607602
Keratoderma Hereditarium Mutilans With Ichthyosis	Scaling skin on fingertip, Alopecia, Parakeratosis, Hypergranulosis, Palmoplantar hyperkeratosis,...	ORPHA:79395
Ectodermal Dysplasia 12, Hypohidrotic/Hair/Tooth/Nail Type	Subungual hyperkeratosis, Eczema, Scarring alopecia of scalp, Hypoplastic sweat glands, Hypohidro...	OMIM:617337
Palmoplantar Keratoderma And Congenital Alopecia 1	Alopecia, Brittle hair, Plantar hyperkeratosis, Epidermal hyperkeratosis, Sparse eyebrow, Leukony...	OMIM:104100
Autosomal Recessive Generalized Epidermolysis Bullosa Simplex	Ridged nail, Aplasia cutis congenita on trunk or limbs, Abnormal fingernail morphology, Pruritus,...	ORPHA:89838
Trichodysplasia-Xeroderma Syndrome	Sparse scalp hair, Alopecia, Brittle hair, Sparse eyebrow, Sparse body hair, Coarse hair, Trichod...	ORPHA:3361
Ectodermal Dysplasia 4, Hair/Nail Type	Absent eyebrow, Alopecia, Brittle hair, Absent eyelashes, Onycholysis, Nail dystrophy, Sparse bod...	OMIM:602032
Ichthyosis, Congenital, Autosomal Recessive 11	Curly hair, Brittle hair, Sparse eyelashes, Curly eyelashes, Sparse eyebrow, Hypohidrosis, Hyperk...	OMIM:602400
Classic Mycosis Fungoides	Alopecia, Skin rash, Eczema, Pruritus, Erythema, Hypopigmented skin patches, Skin ulcer, Skin pla...	ORPHA:2584
Parc Syndrome	Absent eyelashes, Absent eyebrow, Alopecia	OMIM:600331
Odonto-Onycho Dysplasia-Alopecia Syndrome	Alopecia, Abnormal fingernail morphology, Sparse eyebrow, Hypoplastic toenails, Sparse hair, Spar...	ORPHA:2722
Ringed Hair Disease	Abnormal hair pattern, Fine hair	ORPHA:169
Uncombable Hair Syndrome 3	Uncombable hair, Curly hair, Brittle hair, Pili canaliculi	OMIM:617252
Pili Bifurcati	Abnormal hair morphology, Abnormality of hair texture	ORPHA:720
Insulin-Resistance Syndrome Type A	Hyperkeratosis, Generalized hirsutism	ORPHA:2297
Ichthyosis, Congenital, Autosomal Recessive 1	Alopecia, Parakeratosis, Flexion contracture, Palmoplantar hyperkeratosis, Ichthyosis, Congenital...	OMIM:242300
Woolly Hair	Hypopigmentation of hair, Brittle hair, Slow-growing hair, Abnormality of hair texture, Fine hair...	ORPHA:170
Witkop Syndrome	Ridged nail, Concave nail, Nail pits, Fine hair, Small nail, Sparse hair	OMIM:189500
Hypotrichosis 9	Sparse scalp hair, Sparse body hair	OMIM:614237
Pili Torti	Abnormal eyebrow morphology, Alopecia, Brittle hair, Abnormality of hair texture, Abnormality of ...	ORPHA:2889
Hypotrichosis With Juvenile Macular Degeneration	Sparse scalp hair, Brittle hair, Fine hair, Hyperkeratosis, Pili torti	ORPHA:1573
Epidermolysis Bullosa Simplex 6, Generalized Intermediate, With Or Without Cardiomyopathy	Alopecia, Onychogryposis of toenails, Alopecia of scalp, Sparse body hair, Dystrophic toenail	OMIM:617294
Bazex Syndrome	Parakeratosis, Yellow nails, Pruritus, Hyperkeratosis, Palmoplantar keratoderma, Scaling skin, Na...	ORPHA:166113
Anonychia With Flexural Pigmentation	Abnormal hair morphology, Hyperkeratosis, Alopecia of scalp, Follicular hyperkeratosis, Anonychia	ORPHA:69125
Hypotrichosis 1	Sparse eyelashes, Sparse axillary hair, Sparse pubic hair, Sparse eyebrow, Abnormality of the nai...	OMIM:605389
L-Ferritin Deficiency	Alopecia	OMIM:615604
Crandall Syndrome	Alopecia, Brittle hair, Fine hair, Sparse body hair, Abnormal testis morphology, Pili torti, Apla...	ORPHA:202
Uncombable Hair Syndrome 2	Uncombable hair, Pili canaliculi	OMIM:617251
Pruritic Urticarial Papules And Plaques Of Pregnancy	Urticarial plaque, Parakeratosis, Pruritus, Pruritis on abdomen, Pruritus on foot, Increased body...	ORPHA:64745
Angioma Serpiginosum, X-Linked	Sparse hair, Hyperkeratosis, Nail dystrophy, Fine hair	OMIM:300652
Olmsted Syndrome 2	Parakeratosis, Pruritus, Perioral hyperkeratosis, Cheilitis, Palmoplantar hyperkeratosis, Hyperke...	OMIM:619208
Marie Unna Hereditary Hypotrichosis	Sparse scalp hair, Alopecia, Sparse or absent eyelashes, Coarse hair, Aplasia/Hypoplasia of the e...	ORPHA:444
Hair Defect With Photosensitivity And Mental Retardation	Brittle hair, Sparse eyelashes, Sparse eyebrow, Coarse hair, Sparse hair	OMIM:234030
Pili Torti-Onychodysplasia Syndrome	Absent eyebrow, Alopecia, Brittle hair, Absent eyelashes, Generalized keratosis follicularis, Pal...	ORPHA:2890
Hypotrichosis 7	Sparse scalp hair, Brittle hair, Sparse eyelashes, Sparse axillary hair, Abnormal sweat gland mor...	OMIM:604379
Ichthyosis Hystrix Of Curth-Macklin	Recurrent skin infections, Diffuse palmoplantar hyperkeratosis, Flexion contracture, Hyperkeratos...	ORPHA:79503
Ulerythema Ophryogenesis	Acne, Dry skin, Erythematous papule, Facial erythema, Dermal atrophy, Follicular hyperkeratosis, ...	ORPHA:3406
Uncombable Hair Syndrome	Abnormal hair morphology, White hair, Coarse hair, Patchy alopecia, Trichodysplasia, Woolly hair	ORPHA:1410
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis	Parakeratosis, Pruritus, Erythema, Leukonychia, Hyperkeratosis, Palmoplantar keratoderma, Nail dy...	OMIM:615821
Dissecting Cellulitis Of The Scalp	Recurrent skin infections, Abnormal hair morphology, Pruritus, Subcutaneous nodule, Cellulitis	ORPHA:345
Porokeratosis Plantaris Palmaris Et Disseminata	Porokeratosis, Pruritus, Palmoplantar hyperkeratosis, Skin plaque, Annular cutaneous lesion, Hype...	ORPHA:737
Ichthyosis, Congenital, Autosomal Recessive 6	Parakeratosis, Hypohidrosis, Hyperkeratosis, Palmoplantar keratoderma, Scaling skin, Generalized ...	OMIM:612281
Bjornstad Syndrome	Anhidrosis, Alopecia, Brittle hair, Dry hair, Coarse hair, Hair shafts flattened at irregular int...	OMIM:262000
Trichodysplasia-Amelogenesis Imperfecta Syndrome	Alopecia of scalp, Trichodysplasia	ORPHA:79129
Keratosis Linearis With Ichthyosis Congenita And Sclerosing Keratoderma	Parakeratosis, Hyperconvex nail, Linear arrays of macular hyperkeratoses in flexural areas, Honey...	OMIM:601952
Odontoonychodermal Dysplasia	Ridged nail, Dry hair, Palmoplantar hyperkeratosis, Hyperhidrosis, Dystrophic fingernails, Thin n...	OMIM:257980
Keratosis, Focal Palmoplantar And Gingival	Circumungual hyperkeratosis, Subungual hyperkeratosis, Gingival hyperkeratosis, Focal friction-re...	OMIM:148730
Lichen Planopilaris	Alopecia, Abnormal fingernail morphology, Pruritus, Hypopigmented skin patches, Skin ulcer, Hepat...	ORPHA:525
Clouston Syndrome	Alopecia, Brittle hair, Sparse eyelashes, Alopecia totalis, Slow-growing hair, Sparse eyebrow, Pa...	OMIM:129500
Hypertrichosis Lanuginosa Congenita	Congenital, generalized hypertrichosis, Double eyebrow	OMIM:145700
Trichodental Dysplasia	Sparse hair, Brittle hair, Slow-growing hair, Fine hair	OMIM:601453
Hypotrichosis 10	Sparse eyebrow, Sparse eyelashes, Sparse body hair	OMIM:614238
Pili Torti-Developmental Delay-Neurological Abnormalities Syndrome	Sparse or absent eyelashes, Pili torti, Aplasia/Hypoplasia of the eyebrow, Abnormality of hair te...	ORPHA:2891
Aquagenic Palmoplantar Keratoderma	Excessive skin wrinkling on dorsum of hands and fingers, Atopic dermatitis, Orthokeratotic hyperk...	ORPHA:498359
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis	Alopecia, Parakeratosis, Sparse eyelashes, Thick hair, Sparse eyebrow, Pruritus, Orthokeratosis, ...	OMIM:607626
Olmsted Syndrome, X-Linked	Subungual hyperkeratosis, Parakeratosis, Alopecia totalis, Posterior blepharitis, Palmoplantar hy...	OMIM:300918
Acrokeratoderma, Hereditary Papulotranslucent	Fine hair	OMIM:101840
Peeling Skin Syndrome 4	Hyperkeratosis, Palmoplantar keratoderma, Scaling skin, Nail dystrophy, Ichthyosis, Orthokeratosis	OMIM:607936
Obesity Due To Prohormone Convertase I Deficiency	Hypopigmentation of the skin, Decreased response to growth hormone stimulation test, Increased ad...	ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency	Hypopigmentation of the skin, Decreased response to growth hormone stimulation test, Increased ad...	ORPHA:71526
Parana Hard Skin Syndrome	Hyperkeratosis, Thickened skin, Generalized hirsutism	ORPHA:2812
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11	Woolly hair, Palmoplantar keratoderma	OMIM:610476
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome	Brittle hair, Sparse eyelashes, Abnormality of hair texture, Sparse eyebrow, Progressive hypotric...	OMIM:225060
Ectodermal Dysplasia 7, Hair/Nail Type	Sparse scalp hair, Alopecia, Brittle hair, Sparse eyelashes, Abnormal sweat gland morphology, Spa...	OMIM:614929
Candidiasis, Familial, 1	Alopecia	OMIM:114580
Ectodermal Dysplasia-Sensorineural Deafness Syndrome	Sparse hair, Hyperkeratosis, Coarse hair, Brittle hair	ORPHA:1883
Atrichia With Papular Lesions	Sparse hair	OMIM:209500
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige	Psoriasiform dermatitis, Recurrent skin infections, Eosinophilic infiltration of the esophagus, A...	OMIM:615508
Epidermolysis Bullosa Simplex 5D, Generalized Intermediate, Autosomal Recessive	Alopecia, Nail dystrophy	OMIM:616487
Erythrokeratodermia Variabilis Et Progressiva 3	Hypergranulosis, Erythema, Leukonychia, Hyperkeratosis, Palmoplantar keratoderma, Orthokeratosis	OMIM:617525
Palmoplantar Keratoderma And Congenital Alopecia 2	Alopecia totalis, Camptodactyly of finger, Palmoplantar hyperkeratosis, Facial erythema, Hyperker...	OMIM:212360
Dystrophic Epidermolysis Bullosa Pruriginosa	Scarring, Pruritus, Subcutaneous nodule, Hyperkeratosis, Atrophic scars, Dermal atrophy, Nail dys...	ORPHA:89843
Palmoplantar Keratoderma, Norrbotten Recessive Type	Hyperkeratosis, Palmoplantar keratoderma, Papule, Recurrent cutaneous fungal infections	OMIM:244850
Thumb Deformity And Alopecia	Alopecia	OMIM:188150
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Intermediate Form	Plantar hyperkeratosis, Hypermelanotic macule, Pruritus, Spotty hypopigmentation, Hyperkeratosis,...	ORPHA:79399
Acrokeratoelastoidosis Of Costa	Yellow papule, Hypergranulosis, Piezogenic pedal papules, Palmoplantar hyperkeratosis, Hyperkerat...	ORPHA:38
Hypotrichosis 5	Alopecia, Sparse eyelashes, Abnormal sweat gland morphology, Absent pubic hair, Thin eyebrow, Abs...	OMIM:612841
Hyperinsulinism Due To Hnf1A Deficiency	Hepatomegaly, Small for gestational age, Ketotic hypoglycemia, Maternal diabetes, Maturity-onset ...	ORPHA:324575
Netherton Syndrome	Sparse scalp hair, Parakeratosis, Brittle hair, Recurrent skin infections, Brittle scalp hair, Ec...	OMIM:256500
Lipoid Proteinosis Of Urbach And Wiethe	Scarring, Thickened skin, Hyperkeratosis, Patchy alopecia, Skin erosion, Skin plaque, Papule	OMIM:247100
Epidermolysis Bullosa Simplex With Circinate Migratory Erythema	Parakeratosis, Pruritus, Palmoplantar hyperkeratosis, Nail dystrophy, Erythema migrans, Skin vesicle	ORPHA:158681
Erythrokeratodermia Variabilis	Macule, Alopecia, Skin rash, Hypermelanotic macule, Abnormal hair morphology, Erythema, Patchy pa...	ORPHA:317
Congenital Panfollicular Nevus	Pruritus, Hyperkeratosis, Skin nodule, Verrucous papule	ORPHA:139414
Björnstad Syndrome	Alopecia, Brittle hair	ORPHA:123
Epidermolysis Bullosa Dystrophica, Pretibial	Pruritus, Hyperkeratosis, Atrophic scars, Nail dystrophy	OMIM:131850
X-Linked Agammaglobulinemia	Sinusitis, Conjunctivitis, Hypocalcemia, Neutropenia, Chronic otitis media, Recurrent cutaneous a...	ORPHA:47
Chilblain Lupus	Inflammatory abnormality of the skin, Skin rash, Discoid lupus rash, Skin ulcer, Malar rash, Hype...	ORPHA:90280
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy	Ridged nail, Alopecia, Nail dystrophy, Nail pits	OMIM:601705
Progeroid Syndrome, Petty Type	Reduced subcutaneous adipose tissue, Failure to thrive, Brittle hair, Lipoatrophy, Redundant skin...	ORPHA:2963
Peeling Skin Syndrome 6	Parakeratosis, Pruritus, Atopic dermatitis, Scaling skin, Orthokeratosis, Dry skin	OMIM:618084
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency	Elevated hepatic transaminase, Aggressive behavior, Hyperlipidemia, Hyperinsulinemia, Obesity, Hy...	ORPHA:329249
Juvenile Hyaline Fibromatosis	Skeletal muscle atrophy, Aplasia/Hypoplasia of the skin, Progressive flexion contractures, Joint ...	ORPHA:2028
Ichthyosis, Hystrix-Like, With Deafness	Sparse scalp hair, Sparse eyelashes, Absent eyelashes, Scarring alopecia of scalp, Sparse eyebrow...	OMIM:602540
Carvajal Syndrome	Woolly hair, Patchy palmoplantar hyperkeratosis	ORPHA:65282
Acrokeratosis Verruciformis	Hyperkeratosis, Punctate palmoplantar hyperkeratosis, Ridged nail, Acrokeratosis	OMIM:101900
Autosomal Dominant Epidermolytic Ichthyosis	Skin ulcer, Weight loss, Hyperkeratosis, Congenital bullous ichthyosiform erythroderma, Palmoplan...	ORPHA:312
Erythrokeratodermia Variabilis Et Progressiva 6	Pruritus, Erythematous plaque, Parakeratosis, Superficial dermal perivascular inflammatory infilt...	OMIM:618531
Hypertrichosis, Congenital Generalized	Congenital, generalized hypertrichosis, Hirsutism	OMIM:307150
Pili Torti, Early-Onset	Dry hair, Brittle hair, Coarse hair, Hair shafts flattened at irregular intervals and twisted thr...	OMIM:261900
Acrokeratosis Verruciformis Of Hopf	Parakeratosis, Hypergranulosis, Acantholysis, Skin-colored papule, Punctate palmoplantar hyperker...	ORPHA:79151
Acrogeria	Aplasia/Hypoplasia of the skin, Lipoatrophy, Short stature, Skin ulcer, Fine hair, Excessive wrin...	ORPHA:2500
Naxos Disease	Sparse scalp hair, Curly hair, Abnormality of hair texture, Hyperhidrosis, Palmoplantar keratoder...	ORPHA:34217
Trichohepatoenteric Syndrome 2	Hepatomegaly, Brittle hair, Small for gestational age, Decreased serum iron, Chronic hepatitis, U...	OMIM:614602
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency	Predominantly dermal neutrophilic infiltrate, Parakeratosis, Superficial dermal perivascular infl...	ORPHA:284426
Obesity Due To Melanocortin 4 Receptor Deficiency	Hypertriglyceridemia, Increased adipose tissue, Hyperinsulinemia, Obesity, Type II diabetes melli...	ORPHA:71529
Erythrokeratodermia Variabilis Et Progressiva 7	Woolly hair, Anhidrosis, Dystrophic toenail, Palmoplantar hyperkeratosis	OMIM:619209
Ichthyosis, Congenital, Autosomal Recessive 5	Parakeratosis, Palmoplantar keratoderma, Congenital nonbullous ichthyosiform erythroderma, Erythr...	OMIM:604777
Ichthyosis-Hypotrichosis Syndrome	Sparse hair	ORPHA:91132
Hypertrichosis, Anterior Cervical	Anterior cervical hypertrichosis	OMIM:600457
Hypertrichosis Universalis Congenita, Ambras Type	Congenital, generalized hypertrichosis	OMIM:145701
Ectodermal Dysplasia 13, Hair/Tooth Type	Brittle hair, Sparse eyelashes, Low anterior hairline, Thin eyebrow	OMIM:617392
Non-Epidermolytic Palmoplantar Keratoderma	Pruritus, Diffuse palmoplantar hyperkeratosis, Erythema, Skin ulcer, Papule	ORPHA:2337
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency	Hepatomegaly, Maternal diabetes, Large for gestational age, Hyperinsulinemia, Hypoglycemic seizur...	ORPHA:276580
Ichthyosis, Congenital, Autosomal Recessive 9	Hypergranulosis, Hypohidrosis, Hyperkeratosis, Congenital nonbullous ichthyosiform erythroderma, ...	OMIM:615023
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency	Hepatic steatosis, Inguinal hernia, Brittle hair, Kyphoscoliosis, Limitation of joint mobility, O...	OMIM:236200
Epidermolysis Bullosa Simplex With Mottled Pigmentation	Alopecia, Plantar hyperkeratosis, Hypermelanotic macule, Spotty hypopigmentation, Hypomelanotic m...	ORPHA:79397
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency	Hepatomegaly, Large for gestational age, Hyperinsulinemia, Hypoglycemic seizures, Decreased circu...	ORPHA:276575
Sabinas Brittle Hair Syndrome	Dry hair, Brittle hair, Nail dystrophy, Nail dysplasia, Sparse hair	OMIM:211390
Porokeratosis Of Mibelli	Pruritus, Hyperkeratosis, Aplasia/Hypoplasia of the skin, Porokeratosis	ORPHA:735
Ichthyosis, Annular Epidermolytic, 2	Erythema, Palmoplantar hyperkeratosis, Palmoplantar keratoderma, Scaling skin, Ichthyosis, Orthok...	OMIM:620148
Rothmund-Thomson Syndrome, Type 1	Absent eyebrow, Thin nail, Absent eyelashes, Hyperkeratosis, Recurrent otitis media, Nail dystrop...	OMIM:618625
Trichothiodystrophy 6, Nonphotosensitive	Tiger tail banding, Brittle hair, Slow-growing hair, Ichthyosis	OMIM:616943
Pityriasis Rubra Pilaris	Subungual hyperkeratosis, Parakeratosis, Hypergranulosis, Erythematous plaque, Palmoplantar kerat...	OMIM:173200
Menkes Disease	Joint laxity, Alopecia, Brittle hair, Decreased circulating ceruloplasmin concentration, Short st...	OMIM:309400
Vulvovaginal Gingival Syndrome	Ridged nail, Parakeratosis, Pruritus, Erythema, Skin erosion	ORPHA:83453
Ectodermal Dysplasia 15, Hypohidrotic/Hair Type	Sparse scalp hair, Sparse eyelashes, Slow-growing hair, Eczema, Pruritus, Hypohidrosis, Palmoplan...	OMIM:618535
Infantile Myofibromatosis	Neoplasm of the pancreas, Hypercalcemia, Abnormal hair morphology, Abnormal sacrum morphology, Bo...	ORPHA:2591
Palmoplantar Keratoderma, Nagashima Type	Orthokeratotic hyperkeratosis, Palmoplantar hyperhidrosis, Hypergranulosis, Palmoplantar hyperker...	OMIM:615598
Porokeratosis 3, Multiple Types	Parakeratosis, Porokeratosis, Nail dystrophy	OMIM:175900
Zellweger-Like Syndrome Without Peroxisomal Anomalies	Hepatomegaly, Alopecia, Brittle hair, Short stature, Intrauterine growth retardation, Failure to ...	ORPHA:50812
Hyperinsulinism Due To Ucp2 Deficiency	Hepatomegaly, Large for gestational age, Reactive hypoglycemia, Hypoglycemic seizures, Decreased ...	ORPHA:276556
Palmoplantar Keratoderma I, Striate, Focal, Or Diffuse	Hypergranulosis, Yellow nails, Palmoplantar hyperkeratosis, Hyperhidrosis, Orthokeratotic hyperke...	OMIM:148700
Psoriasis 14, Pustular	Parakeratosis, Psoriasiform dermatitis, Cholangitis, Pustule, Erythema, Oligoarthritis, Nail dyst...	OMIM:614204
Ectodermal Dysplasia 11A, Hypohidrotic/Hair/Tooth Type, Autosomal Dominant	Anhidrosis, Brittle hair, Absent nipple, Hypohidrosis, Sparse hair, Absent hair	OMIM:614940
Palmoplantar Keratoderma, Nonepidermolytic, Focal 1	Perioral hyperkeratosis, Palmoplantar keratoderma, Follicular hyperkeratosis, Congenital bullous ...	OMIM:613000
Immunodeficiency 58	Recurrent cutaneous abscess formation, Psoriasiform lesion, Eczema, Allergic rhinitis, Seborrheic...	OMIM:618131
Hyperkeratosis Lenticularis Perstans	Aplasia/Hypoplasia of the skin, Hyperkeratosis lenticularis perstans, Pruritus, Skin ulcer, Papule	ORPHA:409
Woolly Hair, Autosomal Recessive 3	Sparse scalp hair, Curly hair, Sparse eyelashes, Fine hair, Sparse hair, Trichorrhexis nodosa	OMIM:616760
Palmoplantar Keratoderma And Woolly Hair	Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Leukonychia, Palmoplantar keratoderma, Wooll...	OMIM:616099
Congenital Ichthyosiform Erythroderma	Alopecia, Keratitis, Pruritus, Hypohidrosis, Ichthyosis, Palmoplantar keratoderma, Erythroderma, ...	ORPHA:79394
Ichthyosis, Congenital, Autosomal Recessive 13	Ichthyosis, Hyperkeratosis, Hypergranulosis, Palmoplantar hyperkeratosis	OMIM:617574
Flynn-Aird Syndrome	Skeletal muscle atrophy, Alopecia, Cachexia, Joint stiffness, Kyphosis, Bone cyst, Skin ulcer, De...	ORPHA:2047
Pachydermoperiostosis	Abnormal hair quantity, Osteomyelitis, Acne, Abnormal fingernail morphology, Abnormal hair patter...	ORPHA:2796
Epidermolysis Bullosa Simplex 1C, Localized	Hyperkeratosis, Milia	OMIM:131800
Peeling Skin Syndrome 1	Palmoplantar hyperhidrosis, Brittle hair, Onycholysis, Nail dystrophy	OMIM:270300
Prolidase Deficiency	Aplasia/Hypoplasia of the skin, Abnormal fingernail morphology, Pruritus, Erythema, Low anterior ...	ORPHA:742
Kerion Celsi	Inflammatory abnormality of the skin, Recurrent cutaneous abscess formation, Alopecia, Recurrent ...	ORPHA:499
Verrucous Hemangioma	Hyperkeratotic papule, Inflammatory abnormality of the skin, Skin plaque	ORPHA:464318
Mal De Meleda	Inflammatory abnormality of the skin, Superficial dermal perivascular inflammatory infiltrate, Er...	ORPHA:87503
Dracunculiasis	Recurrent cutaneous abscess formation, Skin rash, Pruritus, Subcutaneous nodule, Flexion contract...	ORPHA:231
Trichothiodystrophy 1, Photosensitive	Brittle hair, Trichoschisis, Small for gestational age, Short stature, Flexion contracture, Absen...	OMIM:601675
Ichthyosis With Confetti	Pruritus, Palmoplantar hyperkeratosis, Ichthyosis, Scaling skin, Hypoplastic nipples, Erythroderm...	OMIM:609165
Autosomal Recessive Hypohidrotic Ectodermal Dysplasia	Alopecia, Abnormal fingernail morphology, Abnormal hair morphology, Fine hair, Hypohidrosis, Abno...	ORPHA:248
Ectodermal Dysplasia 9, Hair/Nail Type	Concave nail, Absent eyelashes, Nail dystrophy, Atrichia, Nail dysplasia, Sparse hair, Absent hair	OMIM:614931
Obesity And Hypopigmentation	Hyperinsulinemia, Polyphagia, Obesity, Red hair, Hepatic steatosis	OMIM:620195
Ichthyosis, Lamellar, Autosomal Dominant	Pruritus, Hyperkeratosis, Congenital nonbullous ichthyosiform erythroderma	OMIM:146750
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome	Abnormal eyelash morphology, Sparse scalp hair, Sparse body hair, Alopecia universalis	ORPHA:1008
Ectodermal Dysplasia-Syndactyly Syndrome 2	Hyperhidrosis, Palmoplantar keratoderma, Follicular hyperkeratosis, Congenital bullous ichthyosif...	OMIM:613576
Vohwinkel Syndrome, Variant Form	Parakeratosis, Hypergranulosis, Honeycomb palmoplantar hyperkeratosis, Hyperkeratosis, Orthokerat...	OMIM:604117
Ichthyosis, Congenital, Autosomal Recessive 8	Hypergranulosis, Erythema, Hyperkeratosis, Ichthyosis, Orthokeratosis	OMIM:613943
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques	Anhidrosis, Alopecia, Abnormal fingernail morphology, Thickened skin, Erythema, Skin ulcer, Palmo...	ORPHA:659
Familial Reactive Perforating Collagenosis	Perifolliculitis, Inflammatory abnormality of the skin, Maculopapular exanthema, Abnormal fingern...	ORPHA:79147
Cole Disease	Hypopigmented macule, Hypergranulosis, Punctate palmoplantar hyperkeratosis, Hyperkeratosis, Palm...	OMIM:615522
Moynahan Syndrome	Sparse hair, Hyperkeratosis, Alopecia, Cachexia	ORPHA:2574
Woolly Hair, Autosomal Dominant	Abnormal eyebrow morphology, Dry hair, Slow-growing hair, Abnormal eyelash morphology, Palmoplant...	OMIM:194300
Fibrodysplasia Ossificans Progressiva	Alopecia, Failure to thrive, Spinal rigidity, Subcutaneous nodule, Ectopic ossification in ligame...	ORPHA:337
Infantile Digital Fibromatosis	Hyperkeratosis, Skin nodule, Parakeratosis	ORPHA:199267
Copper Deficiency, Familial Benign	Curly hair, Failure to thrive, Early balding, Seborrheic dermatitis	OMIM:121270
Quinquaud Folliculitis Decalvans	Recurrent skin infections, Scarring, Abnormal hair morphology, Scarring alopecia of scalp, Pustul...	ORPHA:346
Hyperkeratosis-Hyperpigmentation Syndrome	Multiple cafe-au-lait spots, Hyperkeratosis, Papule	ORPHA:1336
Mandibuloacral Dysplasia With Type B Lipodystrophy	Loss of subcutaneous adipose tissue in limbs, Alopecia, Brittle hair, Decreased adipose tissue ar...	OMIM:608612
Schopf-Schulz-Passarge Syndrome	Ridged nail, Narrow nail, Thin nail, Poroma, Hyperkeratosis, Palmoplantar keratoderma, Onycholysi...	OMIM:224750
Pityriasis Rubra Pilaris	Subungual hyperkeratosis, Eczema, Pruritus, Pustule, Thickened skin, Ichthyosis, Palmoplantar ker...	ORPHA:2897
Bullous Dystrophy, Hereditary Macular Type	Alopecia totalis, Abnormality of the nail	OMIM:302000
Cervical Hypertrichosis With Underlying Kyphoscoliosis	Anterior cervical hypertrichosis, Sacral hypertrichosis, Lumbar hypertrichosis, Thoracic hypertri...	OMIM:117850
Psoriasis 2	Hyperkeratosis, Parakeratosis, Psoriasiform dermatitis, Scaling skin	OMIM:602723
Focal Palmoplantar And Gingival Keratoderma	Subungual hyperkeratosis, Abnormal fingernail morphology, Focal friction-related palmoplantar hyp...	ORPHA:2200
Proliferating Trichilemmal Cyst	Sparse scalp hair, Epidermoid cyst, Skin ulcer	ORPHA:492
Chromomycosis	Erythematous macule, Keratitis, Pruritus, Subcutaneous nodule, Verrucous papule, Hypopigmented sk...	ORPHA:182
Syndromic Diarrhea	Brittle hair, Bicuspid aortic valve, Abnormality of the liver, Colitis, Hypoplasia of the thymus,...	ORPHA:84064
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome	Alopecia, Camptodactyly of finger, Hypopigmented skin patches, Palmoplantar keratoderma, Fingerna...	ORPHA:2251
Pachyonychia Congenita	Alopecia, Epidermoid cyst, Angular cheilitis, Paronychia, Onychogryposis of toenails, Linear arra...	ORPHA:2309
Ectodermal Dysplasia 10A, Hypohidrotic/Hair/Nail Type, Autosomal Dominant	Ridged nail, Sparse eyelashes, Slow-growing hair, Sparse eyebrow, Fine hair, Hypohidrosis, Sparse...	OMIM:129490
Cutis Laxa, Autosomal Recessive, Type Iia	Inguinal hernia, Brittle hair, Lipodystrophy, Redundant skin, Abnormality of hair texture, Cutis ...	OMIM:219200
Flynn-Aird Syndrome	Alopecia, Increased bone mineral density, Kyphoscoliosis, Joint stiffness, Osteoporosis, Hyperker...	OMIM:136300
Coffin-Siris Syndrome 8	Sparse scalp hair, Inguinal hernia, Eczema, Cryptorchidism, Long eyelashes, Failure to thrive, Th...	OMIM:618362
Immunodeficiency 51	Recurrent skin infections, Eczema, Pneumonia, Pustule, Chronic mucocutaneous candidiasis, Recurre...	OMIM:613953
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1	Redundant skin, Seborrheic dermatitis, Erythema, Palmoplantar hyperkeratosis, Hyperhidrosis, Arth...	OMIM:259100
Epidermolytic Palmoplantar Keratoderma	Abnormal fingernail morphology, Hypergranulosis, Epidermal hyperkeratosis, Diffuse palmoplantar h...	ORPHA:2199
X-Linked Dominant Chondrodysplasia Punctata	Neuropathic spinal arthropathy, Abnormally ossified vertebrae, Sparse eyelashes, Short stature, A...	ORPHA:35173
Hypergonadotropic Hypogonadism And Partial Alopecia	Alopecia, Streak ovary	OMIM:241090
Lamellar Ichthyosis	Pruritus, Lack of skin elasticity, Hyperkeratosis, Ichthyosis, Abnormality of the nail, Erythrode...	ORPHA:313
Mental Retardation, Microcephaly, Growth Retardation, Joint Contractures, And Facial Dysmorphism	Interphalangeal joint contracture of finger, Widow's peak, Atopic dermatitis, Knee flexion contra...	OMIM:606242
Reticulate Acropigmentation Of Kitamura	Macule, Hyperkeratosis	OMIM:615537
Pseudopelade Of Brocq	Sparse scalp hair, Alopecia, Abnormal hair morphology, Abnormality of the nail, Aplasia/Hypoplasi...	ORPHA:129
Ectodermal Dysplasia-Blindness Syndrome	Abnormal fingernail morphology, Skin ulcer, Fine hair, Hypohidrosis, Hyperkeratosis, Keratoconjun...	ORPHA:1806
Atrophoderma Vermiculata	Hypoplastic pilosebaceous units, Pruritus, Erythema, Periauricular skin pits, Atrophic scars, Ski...	ORPHA:79100
Acquired Ichthyosis	Recurrent skin infections, Pruritus, Erythema, Hyperkeratosis, Palmoplantar keratoderma, Ichthyos...	ORPHA:454
Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis	Skeletal muscle atrophy, Alopecia, Hepatomegaly, Sparse eyelashes, Elevated circulating creatine ...	OMIM:615704
Trichothiodystrophy	Osteopenia, Ridged nail, Congenital exfoliative erythroderma, Multiple joint contractures, Brittl...	ORPHA:33364
Autosomal Dominant Hyper-Ige Syndrome	Osteopenia, Osteomyelitis, Skin rash, Eczema, Craniosynostosis, Recurrent fractures, Abnormal hai...	ORPHA:2314
Palmoplantar Carcinoma, Multiple Self-Healing	Parakeratosis, Palmoplantar keratoderma, Nail dystrophy, Follicular hyperkeratosis, Chronic rhinitis	OMIM:615225
Sézary Syndrome	Skeletal muscle atrophy, Alopecia, Hepatomegaly, Pruritus, Splenomegaly, Lymphadenopathy, Palmopl...	ORPHA:3162
Seborrhea-Like Dermatitis With Psoriasiform Elements	Hyperkeratosis, Seborrheic dermatitis	OMIM:610227
Trichothiodystrophy 4, Nonphotosensitive	Brittle hair, Sparse eyelashes, Abnormality of hair texture, Concave nail, Nail dystrophy, Small ...	OMIM:234050
Trichothiodystrophy 5, Nonphotosensitive	Brittle hair, Slow-growing hair, Sparse eyebrow, Reduced hair sulfur content, Sparse hair, Tiger ...	OMIM:300953
Trichohepatoenteric Syndrome 1	Brittle hair, Hypoalbuminemia, Hepatic fibrosis, Sparse hair, Intrauterine growth retardation, He...	OMIM:222470
Trichothiodystrophy 2, Photosensitive	Coarse hair, Tiger tail banding, Congenital nonbullous ichthyosiform erythroderma, Ichthyosis	OMIM:616390
X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome	Eczema, Cryptorchidism, Obesity, Ichthyosis, Aplasia/Hypoplasia of the testes, Hernia of the abdo...	ORPHA:3055
Keratoderma Hereditarium Mutilans	Alopecia, Honeycomb palmoplantar hyperkeratosis, Hyperkeratosis, Ichthyosis, Abnormal toenail mor...	ORPHA:494
Dowling-Degos Disease 2	Hyperkeratotic papule, Hypomelanotic macule, Follicular hyperkeratosis	OMIM:615327
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair	Decreased circulating cortisol level, Decreased response to growth hormone stimulation test, Adre...	OMIM:609734
Necrobiosis Lipoidica	Inflammatory abnormality of the skin, Indurated nodule, Skin nodule, Erythema, Skin ulcer, Atroph...	ORPHA:542592
Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation	Fragile nails, Fine hair	ORPHA:500166
Autosomal Recessive Palmoplantar Keratoderma And Congenital Alopecia	Aplasia/Hypoplasia of the skin, Alopecia totalis, Subcutaneous nodule, Lack of skin elasticity, A...	ORPHA:1366
Localized Epidermolysis Bullosa Simplex	Plantar hyperkeratosis, Pruritus, Skin plaque, Focal friction-related palmoplantar hyperkeratosis...	ORPHA:79400
Hypohidrotic Ectodermal Dysplasia	Abnormal hair quantity, Failure to thrive, Sinusitis, Slow-growing hair, Eczema, Trichorrhexis no...	ORPHA:238468
Idiopathic Trachyonychia	Ridged nail, Thin nail, Concave nail, Atopic dermatitis, Nail pits, Patchy alopecia, Nail dystrop...	ORPHA:79153
Palmoplantar Keratoderma, Punctate Type Iii	Hyperkeratosis, Acrokeratosis	OMIM:101850
Ameloonychohypohidrotic Syndrome	Seborrheic dermatitis, Hypohidrosis, Onycholysis, Dry skin, Hypocalcification of dental enamel	OMIM:104570
Erythrokeratoderma ''En Cocardes''	Hyperkeratosis, Papule	ORPHA:315
Hypohidrotic Ectodermal Dysplasia-Hypothyroidism-Ciliary Dyskinesia Syndrome	Sparse scalp hair, Alopecia, Sparse eyebrow, Hypothyroidism, Fine hair, Hypohidrosis, Dystrophic ...	ORPHA:1882
Woolly Hair, Hypotrichosis, Everted Lower Lip, And Outstanding Ears	Sparse hair, Woolly hair	OMIM:278200
Ichthyosis, Congenital, Autosomal Recessive 2	Anhidrosis, Alopecia, Thin nail, Hypergranulosis, Abnormal hair morphology, Hypohidrosis, Hyperke...	OMIM:242100
Chronic Mucocutaneous Candidiasis	Skin rash, Abnormal fingernail morphology, Abnormal dental enamel morphology, Pruritus, Erythema,...	ORPHA:1334
Hemihyperplasia-Multiple Lipomatosis Syndrome	Lipoatrophy, Seborrheic dermatitis, Hyperparakeratosis, Hydrocele testis, Multiple lipomas, Nevus...	ORPHA:276280
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects	Alopecia, Parakeratosis, Epidermal nevus, Erythema, Flexion contracture, Hyperkeratosis, Congenit...	OMIM:308050
Infantile Cataract, Skin Abnormalities, Glutamate Excess, And Impaired Intellectual Development	Hyperkeratosis, Parakeratosis, Subcutaneous nodule	OMIM:618339
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant	Alopecia, Sparse eyelashes, Sparse eyebrow, Scarring alopecia of scalp, Keratitis, Facial erythem...	OMIM:612843
Monosomy 22	Aplasia of the thymus, Seborrheic dermatitis, Thickened skin, Synophrys, Hyperhidrosis, Contractu...	ORPHA:96123
Obesity Due To Sim1 Deficiency	Hyperinsulinemia, Obesity, Glucose intolerance, Attention deficit hyperactivity disorder, Increas...	ORPHA:369873
Hidrotic Ectodermal Dysplasia, Halal Type	Sparse scalp hair, Absent eyebrow, Abnormal fingernail morphology, Supernumerary nipple, Absent e...	ORPHA:1809
Darier Disease	Macule, Acrokeratosis, Hypermelanotic macule, Abnormal hair morphology, Pruritus, Thickened skin,...	ORPHA:218
Trichothiodystrophy 3, Photosensitive	Brittle hair, Bilateral cryptorchidism, Congenital ichthyosiform erythroderma, Congenital nonbull...	OMIM:616395
Dyskeratosis Congenita	Abnormality of neutrophils, White hair, Hyperhidrosis, Premature graying of hair, Periodontitis, ...	ORPHA:1775
Cardiofaciocutaneous Syndrome	Brittle hair, Redundant skin, Short neck, Sparse hair, Atrial septal defect, Dystrophic fingernai...	ORPHA:1340
Erosive Pustular Dermatosis Of The Scalp	Abnormal hair morphology, Scarring alopecia of scalp, Pustule, Erythema, Skin erosion	ORPHA:222
Body Mass Index Quantitative Trait Locus 19	Hypertriglyceridemia, Hyperlipidemia, Insulin resistance, Hyperinsulinemia, Obesity, Increased se...	OMIM:617885
Congenital Disorder Of Glycosylation, Type Iq	Failure to thrive, Eczema, Cutis laxa, Hyperkeratosis, Ichthyosis, Dry skin, Hypertrichosis	OMIM:612379
Isolated Agammaglobulinemia	Recurrent cutaneous abscess formation, Sinusitis, Skin rash, Pneumonia, Abnormality of neutrophil...	ORPHA:229717
Ectodermal Dysplasia-Syndactyly Syndrome 1	Sparse scalp hair, Alopecia, Sparse eyelashes, Absent facial hair, Hypoplastic toenails, Coarse h...	OMIM:613573
Krt1-Related Diffuse Nonepidermolytic Keratoderma	Concave nail, Diffuse palmoplantar hyperkeratosis, Erythema, Nonepidermolytic palmoplantar hyperk...	ORPHA:530838
Chilblain Lupus 1	Abnormality of the nail, Chilblains, Skin ulcer	OMIM:610448
Hypotrichosis 8	Ridged nail, Sparse scalp hair, Dry hair, Sparse eyelashes, Sparse axillary hair, Sparse eyebrow,...	OMIM:278150
Lipoid Proteinosis	Acne, Scarring, Pustule, Thickened skin, Subcutaneous nodule, Hyperkeratosis, Alopecia of scalp, ...	ORPHA:530
Mucolipidosis Ii Alpha/Beta	Osteopenia, Brittle hair, Increased serum beta-hexosaminidase, Cardiomegaly, Sparse hair, Hypopig...	OMIM:252500
Ichthyosis Prematurity Syndrome	Allergic rhinitis, Pruritus, Generalized ichthyosis, Follicular hyperkeratosis, Erythroderma, Alo...	OMIM:608649
Hereditary Palmoplantar Keratoderma, Gamborg-Nielsen Type	Hyperkeratosis with erythema, Diffuse palmoplantar hyperkeratosis	ORPHA:86923
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome	Alopecia, Brittle hair, Abnormality of the anterior pituitary, Coarse hair, Posterior pituitary h...	ORPHA:75389
Palmoplantar Keratoderma, Punctate Type Ia	Orthokeratosis, Punctate palmoplantar hyperkeratosis, Hypergranulosis	OMIM:148600
Dermatoleukodystrophy	Hyperkeratosis, Thickened skin	ORPHA:1659
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13	Hypopigmentation of the skin, Hyperactivity, Hypopigmentation of hair, Ataxia, Broad-based gait, ...	ORPHA:411515
Keratosis Follicularis Spinulosa Decalvans, X-Linked	Sparse eyelashes, Sparse eyebrow, Scarring alopecia of scalp, Keratitis, Facial erythema, Follicu...	OMIM:308800
Prolidase Deficiency	Hepatomegaly, Eczema, Elevated circulating aspartate aminotransferase concentration, Thrombocytop...	OMIM:170100
Bazex-Dupre-Christol Syndrome	Eczema, Atopic dermatitis, Hypohidrosis, Coarse hair, Milia, Nevus, Sparse hair, Trichoepitheliom...	OMIM:301845
Obesity Due To Congenital Leptin Deficiency	Hypertriglyceridemia, Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant d...	ORPHA:66628
Oliver-Mcfarlane Syndrome	Alopecia, Central heterochromia, Small for gestational age, Severe short stature, Long eyebrows, ...	OMIM:275400
Ichthyosis Hystrix, Lambert Type	Hyperkeratosis, Orthokeratotic hyperkeratosis	OMIM:146600
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2	Hyperhidrosis, Thickened skin, Acne, Seborrheic dermatitis	OMIM:614441
Epidermolysis Bullosa, Junctional 5A, Intermediate	Absent pubic hair, Nail dystrophy, Absent axillary hair, Onycholysis of distal fingernails, Alope...	OMIM:619816
Werner Syndrome	Skeletal muscle atrophy, Abnormal hair whorl, Premature graying of hair, Increased bone mineral d...	ORPHA:902
Hypotrichosis 12	Sparse scalp hair, Dry hair, Slow-growing hair, Sparse axillary hair, Abnormal sweat gland morpho...	OMIM:615885
Punctate Palmoplantar Keratoderma Type 1	Pancreatic adenocarcinoma, Hypergranulosis, Verrucous papule, Palmoplantar hyperkeratosis, Palmop...	ORPHA:79501
Trichodermodysplasia-Dental Alterations Syndrome	Sparse scalp hair, Brittle hair, Fine hair, Sparse or absent eyelashes, Palmoplantar keratoderma,...	ORPHA:3353
Elastosis Perforans Serpiginosa	Skin-colored papule, Crusting erythematous dermatitis, Cutis laxa, Hyperkeratotic papule, Erythem...	ORPHA:79148
Obesity Due To Leptin Receptor Gene Deficiency	Hypertriglyceridemia, Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant d...	ORPHA:179494
Hypodontia-Dysplasia Of Nails Syndrome	Abnormal fingernail morphology, Hypoplastic toenails, Fine hair, Polycystic ovaries, Thin toenail...	ORPHA:2228
Palmoplantar Keratoderma-Deafness Syndrome	Hyperkeratosis, Palmoplantar keratoderma	ORPHA:2202
Lipodystrophy, Congenital Generalized, Type 1	Hepatic steatosis, Hepatomegaly, Generalized muscular appearance from birth, Umbilical hernia, Hi...	OMIM:608594
Dermatitis, Atopic	Recurrent skin infections, Eczema, Allergic rhinitis, Pruritus, Atopic dermatitis, Facial erythem...	OMIM:603165
Incontinentia Pigmenti	Uveitis, Hyperhidrosis, Abnormality of skin pigmentation, Abnormal toenail morphology, Spina bifi...	ORPHA:464
Dermatofibrosarcoma Protuberans	Subcutaneous nodule, Thickened skin, Erythema, Skin ulcer	ORPHA:31112
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome	Hypopigmentation of hair, Short stature, Albinism, Kyphosis, Osteoporosis, Platyspondyly, Pallor,...	ORPHA:2786
Jaberi-Elahi Syndrome	Brittle hair, Sparse eyelashes, Joint stiffness, Sparse eyebrow, Kyphosis, Fine hair, Scoliosis, ...	OMIM:617988
Oculoskeletodental Syndrome	Hepatomegaly, Small for gestational age, Hypercalcemia, Short stature, Splenomegaly, Cryptorchidi...	OMIM:618440
Cortisone Reductase Deficiency 1	Alopecia, Hirsutism	OMIM:604931
Hawkinsinuria	Sparse hair, Hypothyroidism, Fine hair	ORPHA:2118
Winchester Syndrome	Kyphosis, Subcutaneous nodule, Hirsutism, Osteolysis involving tarsal bones, Carpal osteolysis, G...	OMIM:277950
Beta-Thalassemia	Hepatomegaly, Abnormal hemoglobin, Microcytic anemia, Thrombocytopenia, Splenomegaly, Hepatitis, ...	ORPHA:848
Free Sialic Acid Storage Disease	Hepatomegaly, Failure to thrive in infancy, Splenomegaly, Aplasia/Hypoplasia of the abdominal wal...	ORPHA:834
Ichthyosis, Congenital, Autosomal Recessive 10	Hypergranulosis, Hyperkeratosis, Orthokeratotic hyperkeratosis, Palmoplantar keratoderma, General...	OMIM:615024
Lipodystrophy Due To Peptidic Growth Factors Deficiency	Reduced subcutaneous adipose tissue, Aplasia/Hypoplasia of the skin, Lipodystrophy, Lipoatrophy, ...	ORPHA:1979
Linear Atrophoderma Of Moulin	Pruritus, Scleroderma, Inflammatory abnormality of the skin	ORPHA:140933
Epidermolytic Hyperkeratosis 2	Palmoplantar hyperkeratosis, Hyperkeratosis, Cobblestone-like hyperkeratosis, Palmoplantar kerato...	OMIM:620150
Epidermodysplasia Verruciformis	Recurrent skin infections, Seborrheic dermatitis, Pustule, Hypopigmented skin patches, Multiple c...	ORPHA:302
Leptin Deficiency Or Dysfunction	Decreased serum leptin, Obesity, Hypogonadism, Micropenis, Polyphagia, Decreased testicular size	OMIM:614962
Prader-Willi Syndrome Due To Imprinting Mutation	Hypopigmentation of the skin, Hypopigmentation of hair, Hypogonadotropic hypogonadism, Obesity, P...	ORPHA:177910
Porphyria Cutanea Tarda	Abnormal circulating porphyrin concentration, Scaling skin, Elevated hepatic iron concentration, ...	ORPHA:101330
Griscelli Syndrome	Abnormal eyebrow morphology, Hepatomegaly, Short stature, Abnormality of neutrophils, Abnormal ey...	ORPHA:381
Neonatal Lupus Erythematosus	Parakeratosis, Maculopapular exanthema, Skin rash, Hyperkeratosis, Erythematous plaque, Malar rash	ORPHA:398124
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)	Skeletal muscle atrophy, Hypoglycemia, Elevated circulating aspartate aminotransferase concentrat...	OMIM:245400
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive	Elevated hepatic transaminase, Alopecia, Decreased circulating ceruloplasmin concentration, Decre...	OMIM:242150
Dermatoosteolysis, Kirghizian Type	Aplasia/Hypoplasia of the skin, Tarsal synostosis, Keratitis, Osteoarthritis, Osteolysis, Skin ul...	ORPHA:1657
Ichthyosis, Congenital, Autosomal Recessive 14	Pruritus, Erythema, Hyperkeratosis, Orthokeratotic hyperkeratosis, Scaling skin, Congenital nonbu...	OMIM:617571
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features	Parakeratosis, Xerostomia, Hyperkeratosis, Ichthyosis, Acanthosis nigricans, Dry skin	OMIM:618527
Immunodeficiency, Common Variable, 12, With Autoimmunity	Alopecia, Atrophic gastritis, Recurrent skin infections, Recurrent pneumonia, Pyoderma gangrenosu...	OMIM:616576
Rhizomelic Chondrodysplasia Punctata, Type 1	Alopecia, Calcific stippling of infantile cartilaginous skeleton, Rhizomelia, Severe short statur...	OMIM:215100
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2	Failure to thrive, Hypervalinemia, Hyperammonemia, Hyperisoleucinemia, Hyperleucinemia, Increased...	OMIM:620085
Lipodystrophy, Congenital Generalized, Type 2	Hepatic steatosis, Hepatomegaly, Generalized muscular appearance from birth, Umbilical hernia, Hi...	OMIM:269700
Huntington Disease	Aggressive behavior, Oral-pharyngeal dysphagia, Inability to walk, Weight loss, Abnormal circulat...	ORPHA:399
Porokeratosis 7, Multiple Types	Parakeratosis, Porokeratosis	OMIM:614714
Porokeratosis 1, Multiple Types	Parakeratosis, Porokeratosis	OMIM:175800
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs	Hypothermia, Large for gestational age, Mottled pigmentation, Elevated circulating thyroid-stimul...	ORPHA:226313
Cerebellar Ataxia-Ectodermal Dysplasia Syndrome	Sparse hair, Cryptorchidism, Fine hair	ORPHA:1174
Epidermolysis Bullosa, Junctional 1A, Intermediate	Plantar hyperkeratosis, Camptodactyly of finger, Patchy alopecia, Nail dystrophy, Enamel hypoplas...	OMIM:226650
Hypotonia-Cystinuria Syndrome	Cystine crystalluria, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimul...	OMIM:606407
Microcephalic Primordial Dwarfism, Montreal Type	Abnormal hair quantity, Severe short stature, Lipoatrophy, Kyphosis, Cryptorchidism, Dry skin, Lo...	ORPHA:2617
Immunodeficiency 107, Susceptibility To Invasive Staphylococcus Aureus Infection	Chronic furunculosis, Pyoderma gangrenosum, Cutaneous abscess	OMIM:619986
Idiopathic Congenital Hypothyroidism	Hypothermia, Elevated circulating thyroid-stimulating hormone concentration, Increased radioactiv...	ORPHA:95717
Amelo-Onycho-Hypohidrotic Syndrome	Abnormal fingernail morphology, Hypoplastic toenails, Fine hair, Hypohidrosis, Hyperkeratosis, On...	ORPHA:1028
Netherton Syndrome	Sparse scalp hair, Sparse eyelashes, Eczema, Skin rash, Sparse eyebrow, Abnormal hair morphology,...	ORPHA:634
Omenn Syndrome	Hepatomegaly, Alopecia, Failure to thrive, Pneumonia, Eosinophilia, Pruritus, Splenomegaly, Leuko...	ORPHA:39041
Centrifugal Lipodystrophy	Reduced subcutaneous adipose tissue, Inflammatory abnormality of the skin, Alopecia, Lipoatrophy,...	ORPHA:90156
Dominant Beta-Thalassemia	Extramedullary hematopoiesis, Anisocytosis, Hepatic fibrosis, Pallor, Hypoparathyroidism, Hypopla...	ORPHA:231226
Epidermolysis Bullosa Simplex 4, Localized Or Generalized Intermediate, Autosomal Recessive	Hyperkeratosis	OMIM:615028
Ichthyosis With Alopecia, Eclabium, Ectropion, And Mental Retardation	Alopecia	OMIM:242510
Graves Disease, Susceptibility To, 1	Decreased thyroid-stimulating hormone level, Hyperactivity, Increased circulating free T4 concent...	OMIM:275000
Dowling-Degos Disease	Hypopigmented macule, Epidermoid cyst, Hypermelanotic macule, Abnormal fingernail morphology, Pal...	ORPHA:79145
Lipodystrophy, Congenital Generalized, Type 3	Reduced subcutaneous adipose tissue, Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, Short sta...	OMIM:612526
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2	Brittle hair, Joint hypermobility, Joint stiffness, Postnatal growth retardation, Scoliosis, Atri...	OMIM:619184
Isolated Thyroid-Stimulating Hormone Deficiency	Decreased thyroid-stimulating hormone level, Failure to thrive, Neonatal hyperbilirubinemia, Hypo...	ORPHA:90674
Biotinidase Deficiency	Alopecia, Skin rash, Recurrent skin infections, Seborrheic dermatitis, Conjunctivitis	OMIM:253260
Hatipoglu Immunodeficiency Syndrome	Anhidrosis, Failure to thrive, Inguinal hernia, Eczema, Hyperpigmented/hypopigmented macules, Cry...	OMIM:620331
Porphyria Cutanea Tarda	Facial hypertrichosis, Alopecia, Onycholysis	OMIM:176100
Choroidal Atrophy-Alopecia Syndrome	Abnormal fingernail morphology, Supernumerary nipple, Bifid nail, Fine hair, Sparse or absent eye...	ORPHA:1433
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Parakeratosis, Superficial dermal perivascular inflammatory infiltrate, Failure to thrive, Eczema...	ORPHA:83617
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections	Alopecia, Osteomyelitis, Recurrent skin infections, Eczema, Eosinophilia, Pruritus, Recurrent pne...	OMIM:618282
Pachyonychia Congenita 2	Sparse scalp hair, Dry hair, Subungual hyperkeratosis, Sparse eyebrow, Palmoplantar hyperkeratosi...	OMIM:167210
Autosomal Dominant Hypohidrotic Ectodermal Dysplasia	Abnormal fingernail morphology, Eczema, Hypohidrosis, Thin skin, Sparse hair, Sparse body hair	ORPHA:1810
Meige Disease	Recurrent bacterial skin infections, Recurrent skin infections, Skin ulcer, Atypical scarring of ...	ORPHA:90186
Phenylketonuria	Scleroderma, Fair hair, Eczema, Dry skin	OMIM:261600
Acral Peeling Skin Syndrome	Macule, Eczema, Erythema, Scaling skin, Ichthyosis, Skin erosion, Papule, Excessive wrinkling of ...	ORPHA:263534
Acquired Hypertrichosis Lanuginosa	Abnormal eyebrow morphology, Hypopigmentation of hair, Thickened skin, Ovarian neoplasm, Fine hai...	ORPHA:2221
Ichthyosis Vulgaris	Eczematoid dermatitis, Dry skin, Ichthyosis	OMIM:146700
Hypotrichosis 13	Sparse hair, Woolly hair, Sparse eyelashes, Abnormal sweat gland morphology	OMIM:615896
Alpha-Heavy Chain Disease	Hepatomegaly, Alopecia, Splenomegaly, Lymphadenopathy, Growth delay, Hypocalcemia, Anemia	ORPHA:100025
Brachycephaly, Trichomegaly, And Developmental Delay	Brittle hair, Highly arched eyebrow, Synophrys, Long eyelashes, Thick eyebrow	OMIM:617412
Craniolenticulosutural Dysplasia	Brittle hair, Short stature, Posterior wedging of vertebral bodies, Abnormality of skin pigmentat...	ORPHA:50814
Acrodermatitis Enteropathica	Ridged nail, Abnormal eyebrow morphology, Alopecia, Failure to thrive, Pustule, Paronychia, Eryth...	ORPHA:37
Glycogen Storage Disease Vi	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Failure to thrive in infancy, ...	OMIM:232700
Hereditary Sensory And Autonomic Neuropathy Type 1	Hyperkeratosis, Osteomyelitis, Penetrating foot ulcers, Skin ulcer	ORPHA:36386
Temple Syndrome	Few cafe-au-lait spots, Small for gestational age, Decreased response to growth hormone stimulati...	ORPHA:254516
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12	Woolly hair, Palmoplantar keratoderma	OMIM:611528
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency	Alopecia, Failure to thrive, Seborrheic dermatitis	OMIM:210210
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Ureteral duplication, Elevated circulating creatine kinase concentration, Cardiomegaly, Hypoplast...	OMIM:608836
Hyperkeratosis Lenticularis Perstans	Hyperkeratosis lenticularis perstans	OMIM:144150
Leishmaniasis	Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Abnormal macrophage morphology, Thromb...	ORPHA:507
Angioma Serpiginosum, Autosomal Dominant	Hyperkeratosis	OMIM:106050
Papillomatosis, Confluent And Reticulated	Hyperkeratosis	OMIM:167900
Ichthyosis-Alopecia-Eclabion-Ectropion-Intellectual Disability Syndrome	Congenital alopecia totalis, Sparse eyebrow, Dry skin, Absent pubic hair, Cutis laxa, Scaling ski...	ORPHA:2269
Localized Dystrophic Epidermolysis Bullosa, Pretibial Form	Abnormal fingernail morphology, Pruritus, Skin erosion, Localized skin lesion, Enamel hypoplasia,...	ORPHA:79410
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome	Alopecia, Small for gestational age, Decreased response to growth hormone stimulation test, Ataxi...	ORPHA:3363
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked	Brittle hair, Sparse hair, Periorbital hyperpigmentation, Absent eyebrow, Concave nail, Absent ey...	OMIM:305100
Pseudoprogeria Syndrome	Absent eyebrow, Alopecia, Short stature, Joint stiffness, Absent eyelashes, Sparse eyebrow, Growt...	ORPHA:2985
Hypotrichosis And Recurrent Skin Vesicles	Sparse scalp hair, Sparse eyelashes, Angular cheilitis, Sparse axillary hair, Sparse eyebrow, Leu...	OMIM:613102
Idiopathic Localized Lipodystrophy	Reduced subcutaneous adipose tissue, Inflammatory abnormality of the skin, Lipoatrophy, Pruritus,...	ORPHA:90158
14Q11.2 Microduplication Syndrome	Highly arched eyebrow, Aggressive behavior, Polyphagia, Obesity, Attention deficit hyperactivity ...	ORPHA:261229
Erythrokeratodermia Variabilis Et Progressiva 4	Congenital nonbullous ichthyosiform erythroderma, Hyperkeratosis, Erythema, Palmoplantar hyperker...	OMIM:617526
Hypertrophic Osteoarthropathy, Primary, Autosomal Dominant	Hyperhidrosis, Thickened skin, Acne, Seborrheic dermatitis	OMIM:167100
Uncombable Hair Syndrome 1	Uncombable hair, Dry hair, Pili canaliculi	OMIM:191480
Schaaf-Yang Syndrome	Failure to thrive in infancy, Impulsivity, Cryptorchidism, Inability to walk, Flexion contracture...	OMIM:615547
Hajdu-Cheney Syndrome	Osteopenia, Short neck, Synophrys, Low anterior hairline, Coarse hair, Periodontitis, Hernia, Dec...	ORPHA:955
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Lymphadenitis, Infla...	OMIM:615895
Hepatorenocardiac Degenerative Fibrosis	Elevated hepatic transaminase, Portal hypertension, Hypersplenism, Jaundice, Renal cyst, Hepatosp...	OMIM:619902
Oculoskeletodental Syndrome	Short stature, Hypercalcemia, Hyperlordosis, Abnormality of the frontal hairline, Thoracic kyphos...	ORPHA:557003
Woolly Hair Nevus	Curly hair, Patchy hypopigmentation of hair, Fine hair, Woolly scalp hair, Congenital posterior o...	ORPHA:79414
Autoimmune Lymphoproliferative Syndrome, Type Iii	Increased proportion autoreactive unresponsive CD21-/low B cells, Erythematous macule, Generalize...	OMIM:615559
Familial Thyroid Dyshormonogenesis	Positive perchlorate discharge test, Thyroid defect in oxidation and organification of iodide, Hy...	ORPHA:95716
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne	Pancytopenia, Acne, Thrombocytosis, Elevated circulating C-reactive protein concentration, Microc...	OMIM:604416
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal	Hepatomegaly, Brittle hair, Sparse eyebrow, Hydrocele testis, Hypocholesterolemia, Hypertrophic c...	OMIM:618810
Ramon Syndrome	Abnormal dental enamel morphology, Hyperkeratosis, Failure to thrive, Generalized hirsutism	ORPHA:3019
Lipe-Related Familial Partial Lipodystrophy	Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Proximal muscle weakness in upper lim...	ORPHA:435660
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia	Sparse scalp hair, Alopecia, Abnormal fingernail morphology, Hypoplastic toenails, Fingernail dys...	ORPHA:2325
Congenital Disorder Of Glycosylation, Type Im	Alopecia, Inflammatory abnormality of the skin, Sparse eyelashes, Failure to thrive, Sparse eyebr...	OMIM:610768
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Hemolytic anemia, Autoimmune hemolytic anemia, Psoriasiform dermatitis, Failure to thrive in infa...	OMIM:606367
Reticular Dysgenesis	Skin rash, Abnormality of neutrophils, Skin ulcer, Weight loss, Leukopenia, Chronic otitis media,...	ORPHA:33355
White Sponge Nevus 2	Hyperparakeratosis	OMIM:615785
Noonan Syndrome 8	Curly hair, Eczema, Large for gestational age, Cryptorchidism, Hyperkeratosis, Palmoplantar cutis...	OMIM:615355
Zinc Deficiency, Transient Neonatal	Alopecia	OMIM:608118
Chondrodysplasia Punctata 2, X-Linked Dominant	Sparse eyelashes, Rhizomelia, Kyphoscoliosis, Short neck, Sparse eyebrow, Postnatal growth retard...	OMIM:302960
Alopecia-Intellectual Disability Syndrome 4	Bilateral cryptorchidism, Ichthyosis, Alopecia, Erythroderma	OMIM:618840
Alopecia-Contractures-Dwarfism Mental Retardation Syndrome	Generalized hypoplasia of dental enamel, Alopecia, Thoracic kyphoscoliosis, Severe short stature,...	OMIM:203550
Marshall-Smith Syndrome	Thoracic scoliosis, Brittle hair, Large sternal ossification centers, Bilateral cryptorchidism, S...	OMIM:602535
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma	Alopecia, Sparse eyelashes, Acantholysis, Sparse eyebrow, Palmoplantar hyperkeratosis, Palmoplant...	OMIM:605676
Nicolaides-Baraitser Syndrome	Alopecia, Eczema, Curly eyelashes, Highly arched eyebrow, Abnormal hair pattern, Cryptorchidism, ...	ORPHA:3051
Takayasu Arteritis	Abnormal endocardium morphology, Increased inflammatory response, Abnormal heart valve morphology...	ORPHA:3287
Hydroa Vacciniforme	Superficial dermal perivascular inflammatory infiltrate, Eczema, Scarring, Keratitis, Erythema, M...	ORPHA:330058
Peeling Skin With Leukonychia, Acral Punctate Keratoses, Cheilitis, And Knuckle Pads	Angular cheilitis, Acantholysis, Pruritus, Punctate palmoplantar hyperkeratosis, Cheilitis, Leuko...	OMIM:616295
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome	Reduced subcutaneous adipose tissue, Skeletal muscle atrophy, Alopecia, Limb joint contracture, S...	OMIM:612079
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome	Preauricular pit, Alopecia, Short stature, Hyperpigmented papule, Osteolysis involving bones of t...	ORPHA:88630
Cervical Hypertrichosis-Peripheral Neuropathy Syndrome	Periostitis, Osteomyelitis, Generalized hirsutism, Skin ulcer	ORPHA:2218
Insulinoma	Nonketotic hypoglycemia, Reactive hypoglycemia, Abnormality of the pancreatic islet cells, Fastin...	ORPHA:97279
Potocki-Lupski Syndrome	Hyperactivity, Small for gestational age, Oral-pharyngeal dysphagia, Abnormal repetitive manneris...	OMIM:610883
Beta-Thalassemia Intermedia	Osteopenia, Extramedullary hematopoiesis, Reduced bone mineral density, Abnormality of the liver,...	ORPHA:231222
Transgrediens Et Progrediens Palmoplantar Keratoderma	Recurrent bacterial skin infections, Plantar hyperkeratosis, Angular cheilitis, Hyperconvex nail,...	ORPHA:495
Hereditary Acrokeratotic Poikiloderma	Eczema, Camptodactyly of finger, Pustule, Erythema, Xerostomia, Hypopigmented skin patches, Skin ...	ORPHA:2907
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Myositis, Abnormal blood ion concentration, Tubulointerstitial nephritis, Iron deficiency anemia,...	ORPHA:37042
Beta-Thalassemia Major	Extramedullary hematopoiesis, Hepatic fibrosis, Pallor, Hypoparathyroidism, Hepatomegaly, Hypopla...	ORPHA:231214
Rhizomelic Chondrodysplasia Punctata	Alopecia, Short stature, Rhizomelia, Limitation of joint mobility, Spina bifida occulta, Growth d...	ORPHA:177
Squalene Synthase Deficiency	Failure to thrive in infancy, Hypospadias, Increased circulating farnesol concentration, Bilatera...	OMIM:618156
Bile Acid Synthesis Defect, Congenital, 1	Elevated hepatic transaminase, Hepatomegaly, Giant cell hepatitis, Failure to thrive, Conjugated ...	OMIM:607765
Pemphigus Foliaceus	Psoriasiform dermatitis, Acantholysis, Pruritus, Pustule, Erythema, Crusting erythematous dermati...	ORPHA:79481
Atypical Werner Syndrome	Sclerosis of hand bone, Skeletal muscle atrophy, Abnormal hair whorl, Reduced bone mineral densit...	ORPHA:79474
Griscelli Syndrome, Type 1	Accumulation of melanosomes in melanocytes, White eyelashes, White eyebrow, Silver-gray hair, Lar...	OMIM:214450
Alopecia-Intellectual Disability Syndrome	Sparse scalp hair, Alopecia, Short stature, Flexion contracture, Growth delay, Scoliosis, Sparse ...	ORPHA:2850
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Hypoglycemia, Portal hypertension...	OMIM:251880
Cardiofaciocutaneous Syndrome 3	Hyperkeratosis, Curly hair, Hyperhidrosis	OMIM:615279
Bazex-Dupré-Christol Syndrome	Sparse scalp hair, Sparse eyebrow, Sparse or absent eyelashes, Coarse hair, Sparse hair, Pili tor...	ORPHA:113
X-Linked Intellectual Disability, Stocco Dos Santos Type	Kyphosis, Short stature, Small for gestational age, Hirsutism	ORPHA:85288
Pressure-Induced Localized Lipoatrophy	Reduced subcutaneous adipose tissue, Inflammatory abnormality of the skin, Lipoatrophy, Skin nodu...	ORPHA:90160
Proteus Syndrome	Epidermal nevus, Hyperkeratosis, Multiple lipomas, Nevus, Lipoma	OMIM:176920
Leopard Syndrome 3	Few cafe-au-lait spots, Curly hair, Numerous nevi, Epidermal hyperkeratosis, Low posterior hairli...	OMIM:613707
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Alopecia, Glomerulonephritis, Eczema, Autoimmune thrombocytopenia, Eosinophilia, Thrombocytopenia...	OMIM:304790
Recessive X-Linked Ichthyosis	Cryptorchidism, Hypohidrosis, Hyperkeratosis, Ichthyosis, Dry skin	ORPHA:461
Aplasia Cutis Congenita	Facial palsy, Skin ulcer, Congenital localized absence of skin, Abnormality of bone mineral densi...	ORPHA:1114
H Syndrome	Abnormal eyebrow morphology, Alopecia, Diabetes mellitus, Hypertriglyceridemia, Lipodystrophy, Hy...	ORPHA:168569
2Q23.1 Microdeletion Syndrome	Hyperactivity, Hypoplasia of penis, Ataxia, Highly arched eyebrow, Cryptorchidism, Synophrys, Par...	ORPHA:228402
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Exercise-induced rhabdomyolysis, Small for gestation...	ORPHA:26793
Familial Apolipoprotein Gene Cluster Deletion Syndrome	Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ...	OMIM:620058
Type 1 Diabetes Mellitus	Diabetes mellitus, Polyuria, Decreased level of 1,5 anhydroglucitol in serum, Hyperglycemia, Poly...	OMIM:222100
Carnitine-Acylcarnitine Translocase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Cyanosis, Dicarboxylic aciduria, Hypothermia, Elevat...	ORPHA:159
Body Mass Index Quantitative Trait Locus 20	Hyperinsulinemia, Polyphagia, Obesity	OMIM:618406
Hypophosphatasia	Failure to thrive in infancy, Hypercalcemia, Recurrent fractures, Craniosynostosis, Short stature...	ORPHA:436
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant	Recurrent bacterial skin infections, Sparse eyelashes, Trichiasis, Sparse eyebrow, Keratitis, Elb...	OMIM:148210
Cidec-Related Familial Partial Lipodystrophy	Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, ...	ORPHA:435651
Adult Syndrome	Sparse scalp hair, Alopecia, Absent nipple, Breast hypoplasia, Nail pits, Fine hair, Melanocytic ...	ORPHA:978
Tylosis With Esophageal Cancer	Diffuse palmoplantar hyperkeratosis, Parakeratosis, Follicular hyperkeratosis	OMIM:148500
Sjögren-Larsson Syndrome	Abnormal dental enamel morphology, Erythema, Hyperkeratosis, Ichthyosis, Dry skin, Inflammatory a...	ORPHA:816
Immunodeficiency, Common Variable, 6	Hepatomegaly, Glomerulonephritis, Stage 5 chronic kidney disease, Mesangial Immune complex deposi...	OMIM:613496
Leptin Receptor Deficiency	Diabetes mellitus, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulati...	OMIM:614963
Oculodentodigital Dysplasia	Curly hair, Brittle hair, Ventricular septal defect, Camptodactyly of finger, Abnormal fingernail...	ORPHA:2710
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Lymphopenia, Alopecia, Psoriasiform lesion, Eosinophilia, Autoimmune thrombocytopenia, Decreased ...	ORPHA:169154
Gaucher Disease, Atypical, Due To Saposin C Deficiency	Hypersplenism, Hepatomegaly, Splenomegaly, Hypocholesterolemia	OMIM:610539
Porphyria Cutanea Tarda, Type I	Eczema, Hypertrichosis	OMIM:176090
Hypohidrosis-Enamel Hypoplasia-Palmoplantar Keratoderma-Intellectual Disability Syndrome	Delayed early-childhood social milestone development, Hepatitis, Palmoplantar hyperkeratosis, Hyp...	ORPHA:363523
Hemochromatosis, Type 1	Elevated hepatic transaminase, Hepatomegaly, Alopecia, Cardiomegaly, Increased circulating ferrit...	OMIM:235200
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease	Increased body weight, Glucose intolerance, Hepatic steatosis, Alopecia, Increased circulating co...	ORPHA:189427
Hypocalcemic Vitamin D-Resistant Rickets	Alopecia, Hyperparathyroidism, Short stature, Osteomalacia, Recurrent fractures, Bone cyst, Osteo...	ORPHA:93160
Lymphoproliferative Syndrome, X-Linked, 2	Hepatomegaly, Pancytopenia, Hypertriglyceridemia, Acne, Recurrent skin infections, Aplastic anemi...	OMIM:300635
X-Linked Intellectual Disability, Golabi-Ito-Hall Type	Dry hair, Brittle hair, Nail dystrophy	ORPHA:93947
Microcephaly, Developmental Delay, And Brittle Hair Syndrome	Brittle hair, Small for gestational age, Failure to thrive in infancy, Short stature, Flexion con...	OMIM:618891
Acute Radiation Syndrome	Inflammatory abnormality of the skin, Skin ulcer, Hyperkeratosis, Interstitial pneumonitis, Derma...	ORPHA:454831
Graft Versus Host Disease	Skeletal muscle atrophy, Myositis, Fasciitis, Limited elbow movement, Gastrointestinal inflammati...	ORPHA:39812
Hypophosphatasia, Infantile	Elevated plasma pyrophosphate, Hypercalcemia, Craniosynostosis, Vertebral clefting, Low alkaline ...	OMIM:241500
Ollier Disease	Joint stiffness, Subcutaneous nodule, Osteolysis, Skin ulcer, Platyspondyly, Lymphangioma, Anemia	ORPHA:296
Rhabdoid Tumor	Hypercalcemia, Thrombocytopenia, Subcutaneous nodule, Lymphadenopathy, Weight loss, Neoplasm of t...	ORPHA:69077
Mandibuloacral Dysplasia	Loss of subcutaneous adipose tissue in limbs, Alopecia, Hypertriglyceridemia, Lipoatrophy, Increa...	ORPHA:2457
Pediatric-Onset Graves Disease	Elevated hepatic transaminase, Hepatomegaly, Hyperactivity, Puberty and gonadal disorders, Spleno...	ORPHA:525731
Addison Disease	Hyponatremia, Normocytic anemia, Failure to thrive, Hypoparathyroidism, Primary testicular failur...	ORPHA:85138
Juvenile Dermatomyositis	Calcinosis, Myositis, Alopecia, Pericarditis, Skin rash, Elevated circulating creatine kinase con...	ORPHA:93672
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis	Limb joint contracture, Seborrheic dermatitis, Flexion contracture, Truncal obesity, Aspiration p...	OMIM:301072
Infantile Systemic Hyalinosis	Osteopenia, Severe short stature, Osteomalacia, Camptodactyly of finger, Recurrent fractures, Joi...	ORPHA:2176
Hypotonia-Cystinuria Syndrome	Failure to thrive, Polyphagia, Nephrolithiasis, Cystinuria	ORPHA:163690
6Q16 Microdeletion Syndrome	Broad-based gait, Obesity, Abnormal temper tantrums, Polyphagia, Thick eyebrow	ORPHA:171829
Progressive Familial Intrahepatic Cholestasis	Hepatomegaly, Short stature, Splenomegaly, Jaundice, Cholestasis, Reduced bone mineral density, H...	ORPHA:172
Insulin-Resistance Syndrome Type B	Fasting hyperinsulinemia, Increased body weight, Glucose intolerance, Hypoalbuminemia, Fasting hy...	ORPHA:2298
Zimmermann-Laband Syndrome 3	Thick hair, Kyphosis, Synophrys, Flexion contracture, Low anterior hairline, Absent toenail, Long...	OMIM:618658
Familial Keratoacanthoma	Subcutaneous nodule, Skin ulcer, Hyperkeratosis, Adenoma sebaceum, Papule	ORPHA:493
Late-Onset Familial Hypoaldosteronism	Hyponatremia, Fever, Hyperkalemia, Abnormal circulating corticosterone level, Elevated serum 11-d...	ORPHA:556037
Late-Onset Isolated Acth Deficiency	Hyponatremia, Normocytic anemia, Failure to thrive, Macrocytic anemia, Hypoparathyroidism, Hyperc...	ORPHA:199299
Schöpf-Schulz-Passarge Syndrome	Alopecia, Ovarian neoplasm, Palmoplantar keratoderma, Sparse hair, Aplasia/Hypoplasia of the eyebrow	ORPHA:50944
Pachyonychia Congenita 1	Follicular hyperkeratosis, Nail dystrophy, Palmoplantar hyperkeratosis, Onychogryposis	OMIM:167200
Wilson Disease	Back pain, Hepatomegaly, Acute hepatic failure, Elevated hepatic transaminase, Pruritus, Thromboc...	ORPHA:905
Congenital Disorder Of Glycosylation, Type If	Flexion contracture, Dry skin, Hyperkeratosis, Scaling skin, Erythroderma, Failure to thrive	OMIM:609180
Bardet-Biedl Syndrome 22	Hypogonadism, Polyphagia, Obesity, Large for gestational age	OMIM:617119
Argininosuccinic Aciduria	Hepatomegaly, Dry hair, Brittle hair, Elevated circulating aspartate aminotransferase concentrati...	OMIM:207900
Neuropathy, Hereditary Sensory, Type Iic	Short stature, Intrinsic hand muscle atrophy, Acral ulceration, Distal lower limb muscle weakness...	OMIM:614213
Neutral Lipid Storage Disease With Myopathy	Elevated hepatic transaminase, Hepatomegaly, Diabetes mellitus, Hypertriglyceridemia, Elevated ci...	OMIM:610717
Craniolenticulosutural Dysplasia	Osteopenia, Joint laxity, Brittle hair, Short stature, Cryptorchidism, Posterior wedging of verte...	OMIM:607812
Cronkhite-Canada Syndrome	Hepatomegaly, Alopecia, Generalized hyperpigmentation, Abnormal fingernail morphology, Cachexia, ...	ORPHA:2930
Immunodeficiency 104	Pneumonia, Eczema, Chronic mucocutaneous candidiasis, Otitis media, Failure to thrive secondary t...	OMIM:608971
Man1B1-Cdg	Broad-based gait, Long eyebrows, Sparse eyebrow, Abnormal position of hair whorl, Cutis laxa, Tru...	ORPHA:397941
Hereditary Mucoepithelial Dysplasia	Sparse hair, Hyperkeratosis, Alopecia, Fine hair	ORPHA:1839
Trichotillomania	Alopecia	OMIM:613229
Alstrom Syndrome	Decreased HDL cholesterol concentration, Chronic active hepatitis, Decreased response to growth h...	OMIM:203800
Glycogen Storage Disease Ia	Elevated hepatic transaminase, Hepatomegaly, Decreased muscle mass, Proteinuria, Hypoglycemia, He...	OMIM:232200
Kid Syndrome	Angular cheilitis, Scarring alopecia of scalp, Posterior blepharitis, Recurrent cutaneous fungal ...	ORPHA:477
Brooke-Spiegler Syndrome	Skin appendage neoplasm, Salivary gland neoplasm, Skin-colored papule, Skin nodule, Skin ulcer, C...	ORPHA:79493
Autism Spectrum Disorder Due To Auts2 Deficiency	Inguinal hernia, Small for gestational age, Eczema, Highly arched eyebrow, Cryptorchidism, Periau...	ORPHA:352490
Giant Cell Arteritis	Alopecia, Pericarditis, Joint stiffness, Mediastinal lymphadenopathy, Skin ulcer, Hyperhidrosis, ...	ORPHA:397
Agammaglobulinemia 9, Autosomal Recessive	Failure to thrive, Eczematoid dermatitis, Seborrheic dermatitis	OMIM:619693
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Splenomegaly, Hepatomegaly, Failure to thrive, Enlarged kidney	OMIM:615285
Erythrokeratodermia Variabilis Et Progressiva 1	Generalized hyperkeratosis, Patchy palmoplantar hyperkeratosis, Hypergranulosis, Erythroderma	OMIM:133200
Acne Inversa, Familial, 2, With Or Without Dowling-Degos Disease	Recurrent cutaneous abscess formation, Perifolliculitis, Chronic furunculosis, Follicular hyperke...	OMIM:613736
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked	Failure to thrive in infancy, Recurrent pneumonia, Bronchiectasis, Corneal scarring, Hypohidrosis...	OMIM:301220
Ectodermal Dysplasia-Skin Fragility Syndrome	Chapped lip, Recurrent skin infections, Scarring, Pruritus, Recurrent pneumonia, Cheilitis, Hypoh...	ORPHA:158668
Incontinentia Pigmenti	Ridged nail, Uveitis, Coarse hair, Pallor, Sparse hair, Atrophic, patchy alopecia, Alopecia, Macu...	OMIM:308300
Cardiofaciocutaneous Syndrome 2	Sparse hair, Curly hair, Absent eyebrow, Fine hair	OMIM:615278
Epidermolytic Hyperkeratosis 1	Congenital bullous ichthyosiform erythroderma, Scaling skin, Palmoplantar hyperkeratosis, Erythro...	OMIM:113800
Combined Immunodeficiency Due To Dock8 Deficiency	Recurrent bacterial skin infections, Pneumonia, Atopic dermatitis, Skin ulcer, Recurrent sinusiti...	ORPHA:217390
Erythroderma Desquamativum	Failure to thrive, Seborrheic dermatitis	ORPHA:314
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion	Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Premature a...	ORPHA:98793
Intellectual Developmental Disorder, Fra12A Type	Hyperkeratosis, Erythroderma	OMIM:136630
Epidermolysis Bullosa, Lethal Acantholytic	Alopecia totalis, Acantholysis, Aplasia cutis congenita, Absent fingernail, Skin erosion, Anonych...	OMIM:609638
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy	Decreased HDL cholesterol concentration, Premature graying of hair, Increased intraabdominal fat,...	ORPHA:280365
Leprosy	Urticarial plaque, Absent eyebrow, Alopecia, Hypopigmented macule, Skin nodule, Testicular mass, ...	ORPHA:548
Mandibuloacral Dysplasia With Type A Lipodystrophy	Osteopenia, Flexion contracture, Calcinosis, Hepatomegaly, Alopecia, Lipodystrophy, Increased fac...	OMIM:248370
3-Hydroxy-3-Methylglutaric Aciduria	Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Fever, Ataxia, Ketonuria, Anorex...	ORPHA:20
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2	Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Premature a...	ORPHA:177904
Fusariosis	Myositis, Sinusitis, Fasciitis, Abnormality of the spleen, Paronychia, Subcutaneous nodule, Abnor...	ORPHA:228119
Subcutaneous Panniculitis-Like T-Cell Lymphoma	Skin ulcer, Weight loss, Erythematous plaque, Panniculitis, Erythematous papule	ORPHA:86884
Glycosylphosphatidylinositol Biosynthesis Defect 25	Sparse hair, Coarse hair	OMIM:619985
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15	Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Premature a...	ORPHA:98754
Buerger Disease	Skin ulcer, Hyperhidrosis	ORPHA:36258
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1	Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Premature a...	ORPHA:177901
Orofaciodigital Syndrome Type 1	Elevated hepatic transaminase, Alopecia, Brittle hair, Tarsal synostosis, Lip pit, Abnormal denta...	ORPHA:2750
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia	Foot osteomyelitis, Distal amyotrophy, Acral ulceration, Skin ulcer	ORPHA:139578
Localized Dystrophic Epidermolysis Bullosa, Acral Form	Recurrent loss of toenails and fingernails, Erythema, Crusting erythematous dermatitis, Palmoplan...	ORPHA:158673
Trichothiodystrophy 8, Nonphotosensitive	Eczema, Sparse eyebrow, Cutis laxa, Sparse hair, Woolly hair, Trichorrhexis nodosa	OMIM:619691
Griscelli Syndrome, Type 2	Accumulation of melanosomes in melanocytes, Silver-gray hair, Hepatosplenomegaly, Hemophagocytosi...	OMIM:607624
Pyoderma Gangrenosum	Myositis, Pustule, Skin ulcer, Atrophic scars, Inflammation of the large intestine, Rheumatoid ar...	ORPHA:48104
Celiac Disease, Susceptibility To, 1	Elevated hepatic transaminase, Alopecia, Macrocytic anemia, Short stature, Eczema, Postnatal grow...	OMIM:212750
Mucopolysaccharidosis-Plus Syndrome	Hepatomegaly, Proteinuria, Splenomegaly, Synophrys, Flexion contracture, Low anterior hairline, I...	OMIM:617303
Mucopolysaccharidosis, Type Iiia	Hepatomegaly, Inguinal hernia, Joint stiffness, Splenomegaly, Synophrys, Ovoid thoracolumbar vert...	OMIM:252900
Pemphigus Vulgaris	Atypical scarring of skin, Recurrent cutaneous abscess formation, Weight loss, Acantholysis	ORPHA:704
Donohue Syndrome	Hypermelanotic macule, Adipose tissue loss, Acanthosis nigricans, Hyperkeratosis, Ovarian cyst, P...	OMIM:246200
Intermediate Generalized Junctional Epidermolysis Bullosa	Scarring alopecia of scalp, Abnormality of skin pigmentation, Growth delay, Atrophic scars, Palmo...	ORPHA:79402
Magel2-Related Prader-Willi-Like Syndrome	Flexion contracture, Increased body weight, Compulsive behaviors, Micropenis, Hypopigmentation of...	ORPHA:398069
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome	Reduced subcutaneous adipose tissue, Absent eyebrow, Alopecia, Sparse scalp hair, Sparse eyelashe...	OMIM:137940
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant	Pneumonia, Atopic dermatitis, Nail dystrophy	OMIM:618806
Akt2-Related Familial Partial Lipodystrophy	Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, Decreased adiponectin level, Decreased serum l...	ORPHA:79085
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies	Osteopenia, Hypercalcemia, Craniosynostosis, Decreased response to growth hormone stimulation tes...	OMIM:614732
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form	Hypoalbuminemia, Hypopigmentation of the skin, Distal lower limb amyotrophy, Alopecia, Aplasia cu...	ORPHA:79396
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Sideroblastic anemia, Brittle hair, Splenomegaly, Schistocytosis, Hypochromic microcytic anemia, ...	OMIM:616084
Obesity, Hyperphagia, And Developmental Delay	Abnormal repetitive mannerisms, Polyphagia, Obesity	OMIM:613886
Mucopolysaccharidosis, Type Iiic	Hepatomegaly, Kyphoscoliosis, Joint stiffness, Splenomegaly, Synophrys, Ovoid thoracolumbar verte...	OMIM:252930
Hypotrichosis 14	Sparse pubic hair, Short eyelashes, Absent axillary hair, Sparse hair, Sparse body hair	OMIM:618275
Hereditary Bullous Dystrophy, Macular Type	Alopecia, Congenital abnormal hair pattern, Pneumonia, Short stature, Cryptorchidism, Spotty hypo...	ORPHA:1867
Peroxisome Biogenesis Disorder 3B	Hepatomegaly, Ataxia, Elevated circulating phytanic acid concentration, Steatorrhea, Failure to t...	OMIM:266510
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome	Alopecia, Hypopigmentation of hair	ORPHA:1067
Secondary Short Bowel Syndrome	Low plasma citrulline, Abnormal blood ion concentration, Cholestasis, Central hypothyroidism, Wei...	ORPHA:95427
Granulomatous Slack Skin	Hypercalcemia, Redundant skin, Erythema, Abnormal lymph node morphology, Cutis laxa	ORPHA:33111
Polycystic Kidney Disease 5	Stage 5 chronic kidney disease, Hepatosplenomegaly, Polycystic kidney dysplasia, Reduced renal co...	OMIM:617610
Combined Oxidative Phosphorylation Deficiency 37	Elevated hepatic transaminase, Hypoglycemia, Hypothermia, 3-Methylglutaconic aciduria, Hypoalbumi...	OMIM:618329
Sarcoidosis	Increased T cell count, Subcutaneous nodule, Uveitis, Tubulointerstitial nephritis, Leukopenia, H...	ORPHA:797
Papa Syndrome	Increased inflammatory response, Myositis, Acne, Pustule, Limitation of joint mobility, Skin ulce...	ORPHA:69126
Acute Adrenal Insufficiency	Hyponatremia, Normocytic anemia, Failure to thrive, Hypercalcemia, Sparse axillary hair, Hyperkal...	ORPHA:95409
Panniculitis-Induced Localized Lipodystrophy	Reduced subcutaneous adipose tissue, Inflammatory abnormality of the skin, Lipoatrophy, Skin nodu...	ORPHA:90159
Hypertriglyceridemia, Transient Infantile	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Hepatic fibrosis...	OMIM:614480
Intellectual Developmental Disorder, Autosomal Recessive 5	Small for gestational age, Eczema, Synophrys, Achilles tendon contracture, Sparse hair, Thick eye...	OMIM:611091
Letterer-Siwe Disease	Stomatitis, Pallor, Seborrheic dermatitis	OMIM:246400
Chylomicron Retention Disease	Elevated hepatic transaminase, Hypertriglyceridemia, Steatorrhea, EMG: myopathic abnormalities, M...	ORPHA:71
Cushing Disease	Adrenal hyperplasia, Pituitary corticotropic cell adenoma, Increased body weight, Recurrent cutan...	ORPHA:96253
Fibrous Dysplasia Of Bone	Patchy reduction of bone mineral density, Abnormality of the cervical spine, Cortical irregularit...	ORPHA:249
Intellectual Developmental Disorder, Autosomal Dominant 39	Obesity, Polyphagia, Self-mutilation, Aggressive behavior	OMIM:616521
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma	Alopecia, Hypermelanotic macule, Multinodular goiter, Dry skin, Palmoplantar keratoderma, Hypomel...	OMIM:618373
Omenn Syndrome	Hepatomegaly, Alopecia, Severe B lymphocytopenia, Pneumonia, Eosinophilia, Splenomegaly, Thromboc...	OMIM:603554
Cardiofaciocutaneous Syndrome 4	Joint laxity, Absent eyebrow, Curly hair, Sparse eyelashes, Short stature, Decreased response to ...	OMIM:615280
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Skeletal muscle atrophy, Flexion contracture, Ragged-red muscle fibers, Choreoathetosis, Hepatic ...	ORPHA:17
Porphyria, Congenital Erythropoietic	Osteopenia, Conjunctivitis, Hypopigmentation of the skin, Absent eyebrow, Alopecia, Hemolytic ane...	OMIM:263700
Systemic Sclerosis	Alopecia, Pericarditis, Osteomyelitis, Glomerulonephritis, Cutaneous sclerotic plaque, Recurrent ...	ORPHA:90291
Weaver Syndrome	Deep-set nails, Inguinal hernia, Abnormal fingernail morphology, Thin nail, Camptodactyly of fing...	ORPHA:3447
Riboflavin Deficiency	Elevated circulating acylcarnitine concentration, Dicarboxylic aciduria, Hypoglycemia, Hypothermia	OMIM:615026
Sim1-Related Prader-Willi-Like Syndrome	Premature adrenarche, Micropenis, Hypopigmentation of the skin, Hypothalamic luteinizing hormone-...	ORPHA:398079
Cholestasis, Progressive Familial Intrahepatic, 10	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Conjugated hyperbili...	OMIM:619868
Prader-Willi Syndrome	Decreased muscle mass, Decreased response to growth hormone stimulation test, Micropenis, Hypopig...	OMIM:176270
Hereditary Spherocytosis	Reticulocytosis, Hepatomegaly, Extramedullary hematopoiesis, Maculopapular exanthema, Spontaneous...	ORPHA:822
Ectodermal Dysplasia/Skin Fragility Syndrome	Absent eyebrow, Anhidrosis, Absent eyelashes, Palmoplantar hyperkeratosis, Nail dystrophy, Scalin...	OMIM:604536
Benign Cephalic Histiocytosis	Inflammatory abnormality of the skin, Skin rash, Papule	ORPHA:157997
Reynolds Syndrome	Skin rash, Pruritus, Xerostomia, Skin ulcer, Arthritis, Keratoconjunctivitis sicca, Infectious en...	ORPHA:779
Ichthyosis, Congenital, Autosomal Recessive 7	Ichthyosis, Palmoplantar keratoderma, Hypergranulosis, Erythroderma	OMIM:615022
Hypomelanosis Of Ito	Macular hypopigmented whorls, streaks, and patches, Alopecia, Kyphosis, Scoliosis	OMIM:300337
Genetic Transient Congenital Hypothyroidism	Increased circulating thyroglobulin level, Abnormal radioactive iodine uptake test result, Thyroi...	ORPHA:226316
Costello Syndrome	Deep-set nails, Failure to thrive in infancy, Redundant skin, Abnormal fingernail morphology, Con...	ORPHA:3071
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Hepatit...	ORPHA:444463
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency	Decreased circulating cortisol level, Bilateral cryptorchidism, Absent pubic hair, Male hypogonad...	ORPHA:90793
Knuckle Pads-Leukonychia-Sensorineural Deafness-Palmoplantar Hyperkeratosis Syndrome	Hyperkeratotic papule, Palmoplantar keratoderma, Leukonychia, Palmoplantar hyperkeratosis	ORPHA:2698
Limited Cutaneous Systemic Sclerosis	Foot joint contracture, Hypopigmented skin patches, Skin ulcer, Abnormality of skin pigmentation,...	ORPHA:220402
Bardet-Biedl Syndrome 9	Bone spicule pigmentation of the retina, Renal insufficiency, Obesity, Truncal obesity, Hyperglyc...	OMIM:615986
Lichen Planus Pemphigoides	Pruritus, Hyperkeratosis, Conjunctivitis, Skin vesicle, Blepharitis, Abnormality of the nail	ORPHA:254478
Corticosterone Methyloxidase Type Ii Deficiency	Hyponatremia, Increased circulating corticosterone level, Renal salt wasting, Increased circulati...	OMIM:610600
Elastoderma	Eczema, Skin nodule, Cutis laxa, Premature skin wrinkling, Erysipelas, Papule	ORPHA:228240
Nephronophthisis 16	Renal insufficiency, Stage 5 chronic kidney disease, Cholestasis, Periportal fibrosis, Polycystic...	OMIM:615382
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Proteinuria, Abnormality of the k...	ORPHA:369
Darier-White Disease	Ridged nail, Acrokeratosis, Hypermelanotic macule, Acantholysis, Palmar pits, Pruritus, Plantar p...	OMIM:124200
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome	Failure to thrive, Eczema, Seborrheic dermatitis, Obesity, Abnormality of the pineal gland, Thick...	ORPHA:369950
Ataxia-Telangiectasia	Elevated hepatic transaminase, Skeletal muscle atrophy, Hypopigmentation of hair, Diabetes mellit...	ORPHA:100
Papillon-Lefèvre Syndrome	Recurrent cutaneous abscess formation, Severe periodontitis, Recurrent skin infections, Abnormal ...	ORPHA:678
Tyrosinemia, Type I	Acute hepatic failure, Nephrocalcinosis, Renal Fanconi syndrome, Hypophosphatemic rickets, Hepato...	OMIM:276700
Congenital Lethal Erythroderma	Congenital exfoliative erythroderma, Failure to thrive, Dry skin, Ichthyosis	ORPHA:1954
Arthrogryposis And Ectodermal Dysplasia	Absent eyebrow, Abnormal dental enamel morphology, Trichiasis, Hypohidrosis, Atypical scarring of...	OMIM:601701
Lipodystrophy, Familial Partial, Type 5	Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, Decreased adiponectin level, Decreased serum l...	OMIM:615238
Systemic Lupus Erythematosus 17	Lymphopenia, Alopecia, Autoimmune thrombocytopenia, Thrombocytopenia, Leukopenia, Optic neuritis,...	OMIM:301080
Hypotrichosis-Lymphedema-Telangiectasia Syndrome	Sparse scalp hair, Alopecia, Absent eyebrow, Abnormal sweat gland morphology, Absent eyelashes, H...	OMIM:607823
Amaurosis-Hypertrichosis Syndrome	Abnormal eyelash morphology, Synophrys, Coarse hair, Thick eyebrow	ORPHA:1021
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome	Decreased response to growth hormone stimulation test, Gonadotropin deficiency, Compulsive behavi...	ORPHA:293987
Candidiasis, Familial, 8	Chronic oral candidiasis, Blepharitis, Cheilitis, Seborrheic dermatitis	OMIM:615527
Leprechaunism	Skeletal muscle atrophy, Nephrocalcinosis, Increased circulating renin level, Recurrent infantile...	ORPHA:508
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type	Kyphosis, Short stature, Scoliosis, Hirsutism	OMIM:300434
Absence Of Fingerprints-Congenital Milia Syndrome	Skin rash, Camptodactyly of finger, Thickened skin, Hypohidrosis, Thin skin, Milia	ORPHA:1658
Early-Onset Familial Hypoaldosteronism	Hyponatremia, Hyperkalemia, Abnormal circulating corticosterone level, Elevated serum 11-deoxycor...	ORPHA:556030
Rapp-Hodgkin Syndrome	Sparse eyelashes, Slow-growing hair, Supernumerary nipple, Sparse eyebrow, Dry skin, Fine hair, P...	OMIM:129400
Spastic Paraplegia 18B, Autosomal Recessive	Skeletal muscle atrophy, Kyphosis, Scoliosis, Joint contracture, Lower limb muscle weakness	OMIM:611225
Lymphatic Malformation 4	Hydrocele testis, Hyperkeratosis, Toenail dysplasia, Cellulitis	OMIM:615907
Mitochondrial Complex Iii Deficiency, Nuclear Type 1	Hypertyrosinemia, Elevated hepatic transaminase, Brittle hair, Cholangitis, Microvesicular hepati...	OMIM:124000
Mucopolysaccharidosis, Type Iiib	Hepatomegaly, Cardiomegaly, Joint stiffness, Splenomegaly, Synophrys, Ovoid thoracolumbar vertebr...	OMIM:252920
Aa Amyloidosis	Hepatomegaly, Proteinuria, Abnormality of the kidney, Chronic kidney disease, Cholestasis, Nephro...	ORPHA:85445
Silver-Russell Syndrome Due To 7P11.2P13 Microduplication	Hyperhidrosis, High anterior hairline, Long eyelashes, Fine hair	ORPHA:231137
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2	Hip contracture, Large for gestational age, Seborrheic dermatitis, Flexion contracture, Elbow fle...	OMIM:300868
Iga Pemphigus	Neutrophilic infiltration of the skin, Acantholysis, Pruritus, Pustule, Ulcerative colitis, Annul...	ORPHA:555905
Ichthyosis, Spastic Quadriplegia, And Impaired Intellectual Development	Inguinal hernia, Erythema, Hyperkeratosis, Scaling skin, Congenital nonbullous ichthyosiform eryt...	OMIM:614457
Pick Disease Of Brain	Abnormal repetitive mannerisms, Polyphagia, Inappropriate laughter, Disinhibition	OMIM:172700
Pigmented Nodular Adrenocortical Disease, Primary, 4	Alopecia, Adrenal hyperplasia, Acne, Dorsocervical fat pad, Increased body weight, Increased circ...	OMIM:615830
Nestor-Guillermo Progeria Syndrome	Limited elbow movement, Flexion contracture, Rib osteolysis, Alopecia, Short stature, Sparse eyeb...	OMIM:614008
Osteopenia-Intellectual Disability-Sparse Hair Syndrome	Osteopenia, Sparse scalp hair, Recurrent fractures, Postnatal growth retardation, Fine hair, Join...	ORPHA:2324
Cryoglobulinemic Vasculitis	Viral hepatitis, Hepatomegaly, Mediastinal lymphadenopathy, Splenomegaly, Skin ulcer, Arthritis, ...	ORPHA:91138
Angelman Syndrome	Hypopigmentation of the skin, Hyperactivity, Fair hair, Precocious puberty in females, Ataxia, Br...	ORPHA:72
Kleine-Levin Syndrome	Fever, Abnormal eating behavior, Repetitive compulsive behavior, Sweet craving, Hypersexuality, A...	ORPHA:33543
Dyskeratosis Congenita, Autosomal Dominant 3	Alopecia, Pancytopenia, Aplastic anemia, Short stature, Reticulated skin pigmentation, Cryptorchi...	OMIM:613990
Glycogen Storage Disease Ib	Elevated hepatic transaminase, Hepatomegaly, Pancreatic fibrosis, Proteinuria, Hypoglycemia, Hepa...	OMIM:232220
Chand Syndrome	Curly hair, Nail dysplasia	OMIM:214350
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Hypoglycemic seizures, Nephrocalcinosis, Hypothyroidism, Hepatic steatosis, Tubulointerstitial fi...	ORPHA:79259
Progeria-Short Stature-Pigmented Nevi Syndrome	Osteopenia, Neoplasm of the pancreas, Alopecia, Multiple joint contractures, Thoracic scoliosis, ...	ORPHA:2959
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency	Hypopigmentation of hair, Partial albinism, Short stature, Neutropenia	ORPHA:90023
Polyarteritis Nodosa	Pericarditis, Elevated circulating C-reactive protein concentration, Subcutaneous nodule, Erythem...	ORPHA:767
Adult-Onset Still Disease	Elevated hepatic transaminase, Hepatomegaly, Pericarditis, Generalized lymphadenopathy, Skin rash...	ORPHA:829
Spontaneous Periodic Hypothermia	Hypothermia, Ataxia, Pallor, Gait disturbance	ORPHA:29822
Microcephaly-Lymphedema-Chorioretinopathy Syndrome	Melanonychia, Abnormal eyelash morphology, Abnormal hair morphology, Thickened skin, Subcutaneous...	ORPHA:2526
Thymic Neuroendocrine Tumor	Osteopenia, Chronic noninfectious lymphadenopathy, Hypercalcemia, Pancreatic islet cell adenoma, ...	ORPHA:97289
Drug Reaction With Eosinophilia And Systemic Symptoms	Macule, Acute hepatic failure, Elevated hepatic transaminase, Skin rash, Eosinophilia, Pustule, M...	ORPHA:139402
Calciphylaxis	Skin ulcer, Abnormality of skin physiology, Secondary hyperparathyroidism, Cellulitis	ORPHA:280062
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Urticarial plaque, Elevated circulating C-reactive protein concentration, Leukopenia, Hashimoto t...	OMIM:615688
Chylomicron Retention Disease	Failure to thrive, Decreased LDL cholesterol concentration, Steatorrhea, Hypoalbuminemia, Hypocho...	OMIM:246700
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency	Eczema, Chronic mucocutaneous candidiasis, Hypohidrosis, Inflammation of the large intestine, Rec...	ORPHA:98813
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Fkbp22 Deficiency	Atrophic scars, Hernia, Follicular hyperkeratosis	ORPHA:300179
Bone Marrow Failure Syndrome 3	Eczema, Pancreatic steatosis, Cryptorchidism, Amelogenesis imperfecta, Hyperkeratosis, Hypomelano...	OMIM:617052
Congenital Factor Xii Deficiency	Penetrating foot ulcers	ORPHA:330
Poikiloderma With Neutropenia	Plantar hyperkeratosis, Skin rash, Sparse eyebrow, Recurrent pneumonia, Low posterior hairline, H...	OMIM:604173
Congenital Disorder Of Glycosylation, Type Ia	Elevated hepatic transaminase, Hepatomegaly, Hypergonadotropic hypogonadism, Ataxia, Proteinuria,...	OMIM:212065
Hypobetalipoproteinemia, Familial, 1	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Ataxia, Elevated circulating aspar...	OMIM:615558
Maternal Uniparental Disomy Of Chromosome 4	Neurogenic bladder, Calf muscle pseudohypertrophy, Abetalipoproteinemia, Elevated circulating cre...	ORPHA:96180
Congenital Bile Acid Synthesis Defect Type 2	Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Extramedullary hematopoiesis, ...	ORPHA:79303
Hypothyroidism Due To Tsh Receptor Mutations	Reduced radioactive iodine uptake, Increased circulating thyroglobulin level, Neonatal hyperbilir...	ORPHA:90673
Generalized Pustular Psoriasis	Hyponatremia, Elevated hepatic transaminase, Elevated circulating C-reactive protein concentratio...	ORPHA:247353
Diffuse Cutaneous Mastocytosis	Hepatomegaly, Mixed hypo- and hyperpigmentation of the skin, Pruritus, Abnormality of the spleen,...	ORPHA:79456
Dietary Iron Overload Disease	Viral hepatitis, Hepatomegaly, Hepatocellular carcinoma, Increased circulating ferritin concentra...	ORPHA:139507
Cebalid Syndrome	Thick eyebrow, Congenital diaphragmatic hernia, Polyphagia, Highly arched eyebrow	OMIM:618774
B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome	Osteopenia, Skeletal muscle atrophy, Sparse scalp hair, Sparse eyelashes, Lipodystrophy, Kyphosco...	ORPHA:75496
Linear Verrucous Nevus Syndrome	Hyperkeratosis, Sparse scalp hair, Verrucous papule	ORPHA:2611
Autosomal Dominant Severe Congenital Neutropenia	Osteopenia, Acute myeloid leukemia, Recurrent skin infections, Pneumonia, Aplastic anemia, Eosino...	ORPHA:486
Ichthyosis, Congenital, Autosomal Recessive 3	Anhidrosis, Erythema, Hypohidrosis, Hyperkeratosis, Palmoplantar keratoderma, Congenital nonbullo...	OMIM:606545
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis	Decreased HDL cholesterol concentration, Decreased LDL cholesterol concentration, Hypocholesterol...	OMIM:616834
Familial Hemophagocytic Lymphohistiocytosis	Colitis, Hypoalbuminemia, Neutropenia, Ecchymosis, Infectious encephalitis, Hepatomegaly, Maculop...	ORPHA:540
Ectodermal Dysplasia/Short Stature Syndrome	Hyperkeratosis, Palmoplantar keratoderma, Nail dystrophy, Enamel hypoplasia, Anonychia	OMIM:616029
Ane Syndrome	Alopecia, Multiple joint contractures, Lipoatrophy, Short stature, Kyphoscoliosis, Decreased resp...	ORPHA:157954
Craniofrontonasal Dysplasia	Camptodactyly of finger, Craniosynostosis, Congenital diaphragmatic hernia, Abnormality of hair t...	ORPHA:1520
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome	Alopecia, Abnormal dental enamel morphology, Hypohidrosis, Hyperkeratosis, Ichthyosis, Sparse hai...	ORPHA:1005
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss	Elevated circulating aspartate aminotransferase concentration, Pruritus, Splenomegaly, Jaundice, ...	OMIM:619658
Intermediate Osteopetrosis	Back pain, Sandwich appearance of vertebral bodies, Osteomyelitis, Recurrent fractures, Cortical ...	ORPHA:210110
Neutral Lipid Storage Disease With Ichthyosis	Elevated hepatic transaminase, Hepatomegaly, Alopecia, Hypertriglyceridemia, Ataxia, Micronodular...	ORPHA:98907
Leopard Syndrome 2	Curly hair, Short stature, Short neck, Dry skin, Multiple lentigines, Hypertrophic cardiomyopathy...	OMIM:611554
Noonan Syndrome 5	Curly hair, Short stature, Nevus, Short neck, Sparse eyebrow, Large for gestational age, Cryptorc...	OMIM:611553
Odontotrichoungual-Digital-Palmar Syndrome	Nail dystrophy, Nail dysplasia, Abnormality of hair texture	OMIM:601957
Schimmelpenning-Feuerstein-Mims Syndrome	Osteopenia, Alopecia, Short stature, Nevus sebaceous, Recurrent fractures, Kyphoscoliosis, Linear...	OMIM:163200
Peeling Skin Syndrome 5	Hyperkeratosis, Scaling skin	OMIM:617115
Complement Component 5 Deficiency	Generalized seborrheic dermatitis	OMIM:609536
Non-Functioning Paraganglioma	Episodic hyperhidrosis, Hypercalcemia, Pallor, Weight loss	ORPHA:94080
Mandibuloacral Dysplasia With Type B Lipodystrophy	Calcinosis, Alopecia, Short stature, Abnormal hair morphology, Hyperlipidemia, Delayed puberty, O...	ORPHA:90154
Tricho-Retino-Dento-Digital Syndrome	Uncombable hair, Sparse hair	ORPHA:1264
Renpenning Syndrome	Skeletal muscle atrophy, Alopecia, Abnormal hairshaft morphology, Severe short stature, Cachexia,...	ORPHA:3242
Neutrophilic Dermatosis, Acute Febrile	Erythema, Pyoderma gangrenosum, Panniculitis, Cystic acne, Acne inversa	OMIM:608068
Coenzyme Q10 Deficiency, Primary, 5	Left ventricular hypertrophy, Hyperalaninemia, Decreased level of coenzyme Q10 in skeletal muscle...	OMIM:614654
Mitochondrial Dna-Associated Leigh Syndrome	Fever, Hepatomegaly, Failure to thrive, Multiple glomerular cysts, Ataxia, Hypothermia, Abnormali...	ORPHA:255210
22Q11.2 Deletion Syndrome	Hypoparathyroidism, Inguinal hernia, Hyperthyroidism, Acne, Abnormal dental enamel morphology, Se...	ORPHA:567
Monosomy 13Q34	Hypercalcemia, Obesity, Growth delay, Horizontal eyebrow, Pulmonic stenosis, Common atrium, Hepat...	ORPHA:96168
Obesity	Increased waist to hip ratio, Obesity, Decreased resting energy expenditure	OMIM:601665
Fg Syndrome 3	Sparse hair, Cryptorchidism, Frontal upsweep of hair, Fine hair	OMIM:300406
Congenital Generalized Lipodystrophy	Hepatomegaly, Diabetes mellitus, Precocious puberty in females, Hypertriglyceridemia, Lipodystrop...	ORPHA:528
Naxos Disease	Curly hair, Subungual hyperkeratosis, Acantholysis, Sparse eyebrow, Diffuse palmoplantar hyperker...	OMIM:601214
Intellectual Developmental Disorder With Muscle Tone Abnormalities And Distal Skeletal Defects	Failure to thrive, Eczema	OMIM:620007
Bethlem Myopathy 2	Scapular winging, Elevated circulating creatine kinase concentration, Distal joint laxity, Kyphos...	OMIM:616471
Rothmund-Thomson Syndrome	Osteopenia, Aplastic anemia, Reduced bone mineral density, Neutropenia, Sparse hair, Hypopigmenta...	ORPHA:2909
Mitochondrial Complex Iii Deficiency, Nuclear Type 10	Small for gestational age, Alopecia totalis, Elevated circulating creatine kinase concentration, ...	OMIM:618775
Dermatomyositis	Abnormal hair quantity, Pericarditis, Aplasia/Hypoplasia of the skin, Abnormal eosinophil morphol...	ORPHA:221
Autoimmune Polyendocrinopathy Type 4	Osteopenia, Alopecia, Atrophic gastritis, Macrocytic anemia, Autoimmune thrombocytopenia, Iridocy...	ORPHA:227990
Abetalipoproteinemia	Decreased HDL cholesterol concentration, Cardiomegaly, Dysmetria, Gait ataxia, Steppage gait, Hep...	ORPHA:14
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome	Thick hair, Kyphosis, Synophrys, Low posterior hairline, Truncal obesity, Scoliosis, Thick eyebrow	ORPHA:2429
Aredyld Syndrome	Craniofacial hyperostosis, Hepatomegaly, Lipoatrophy, Abnormal dental enamel morphology, Cachexia...	ORPHA:1133
Pachyonychia Congenita 3	Plantar hyperkeratosis, Onychogryposis of toenails, Hyperhidrosis, Palmoplantar keratoderma, Nail...	OMIM:615726
De Sanctis-Cacchione Syndrome	Parakeratosis, Hypermelanotic macule, Bilateral cryptorchidism, Keratitis, Conjunctivitis, Dermal...	OMIM:278800
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor	Inguinal hernia, Large for gestational age, Umbilical hernia, Nephroblastoma, Enlarged kidney	OMIM:618272
2-Methylbutyryl-Coa Dehydrogenase Deficiency	Hypoglycemia, Generalized amyotrophy, Hypothermia, 2-ethylhydracylic aciduria	OMIM:610006
Ulna Metaphyseal Dysplasia Syndrome	Abnormality of the vertebral column, Hypercalcemia	OMIM:191420
Paternal Uniparental Disomy Of Chromosome 1	Membranoproliferative glomerulonephritis, Proteinuria, Hypercalcemia, Abnormal dental enamel morp...	ORPHA:251004
Mandibuloacral Dysplasia With Type A Lipodystrophy	Abnormal eyebrow morphology, Alopecia, Short stature, Absent eyelashes, Hyperlipidemia, Flexion c...	ORPHA:90153
Paget Disease, Extramammary	Eczematoid dermatitis	OMIM:167300
Sweet Syndrome	Predominantly dermal neutrophilic infiltrate, Myositis, Acne, Pustule, Skin nodule, Pyoderma gang...	ORPHA:3243
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome	Alopecia, Abnormal dental enamel morphology, Highly arched eyebrow, Synophrys, Palmoplantar hyper...	ORPHA:3253
Frontotemporal Dementia	Polyphagia, Disinhibition, Inappropriate laughter	OMIM:600274
Autoimmune Polyendocrinopathy Type 3	Osteopenia, Alopecia, Atrophic gastritis, Macrocytic anemia, Autoimmune hypoparathyroidism, Autoi...	ORPHA:227982
Holocarboxylase Synthetase Deficiency	Alopecia, Eczema, Hyperammonemia, Keratoconjunctivitis, Weight loss, Growth delay, Thrombocytopen...	ORPHA:79242
Macs Syndrome	Joint laxity, Alopecia, Short stature, Redundant skin, Sparse eyebrow, Cryptorchidism, Osteoporos...	OMIM:613075
Oculocerebrorenal Syndrome Of Lowe	Hyperparathyroidism, Hypoammonemia, Periodontitis, Chronic otitis media, Hyponatremia, Short stat...	ORPHA:534
Pgm3-Cdg	Abnormal CD4:CD8 ratio, Leukopenia, T lymphocytopenia, Neutropenia, Chronic otitis media, Decreas...	ORPHA:443811
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor	Alopecia, Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Elevated circulating ...	OMIM:600785
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1	Curly hair, Sparse scalp hair, Failure to thrive, Inguinal hernia, Eczema, Large for gestational ...	OMIM:607721
Zimmermann-Laband Syndrome 2	Thick eyebrow, Short stature, Short neck, Kyphosis, Synophrys, Widow's peak, Macroglossia, Long e...	OMIM:616455
Kikuchi-Fujimoto Disease	Erythematous macule, Generalized lymphadenopathy, Elevated circulating C-reactive protein concent...	ORPHA:50918
Diffuse Neonatal Hemangiomatosis	Hepatomegaly, Thrombocytopenia, Hypercalcemia, Anemia	ORPHA:2123
Hyperparathyroidism 4	Osteopenia, Primary hyperparathyroidism, Parathyroid carcinoma, Hypercalcemia	OMIM:617343
Insensitivity To Pain, Congenital, With Anhidrosis	Sparse scalp hair, Anhidrosis, Osteomyelitis, Keratitis, Corneal scarring, Acral ulceration, Nail...	OMIM:256800
Pemphigus Erythematosus	Focal dermal aplasia/hypoplasia, Acantholysis, Localized skin lesion, Hypopigmented skin patches,...	ORPHA:79480
Congenital Disorder Of Glycosylation, Type Iio	Elevated hepatic transaminase, Hepatomegaly, Skeletal muscle atrophy, Decreased circulating cerul...	OMIM:616828
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome	Hypercalcemia, Complete atrioventricular canal defect, Synophrys, Kyphosis, Scoliosis, Failure to...	ORPHA:476126
Livedoid Vasculopathy	Abnormal circulating lipid concentration, Superficial dermal perivascular inflammatory infiltrate...	ORPHA:542643
Subacute Cutaneous Lupus Erythematosus	Psoriasiform lesion, Discoid lupus rash, Cheilitis, Hyperkeratosis, Annular cutaneous lesion, Der...	ORPHA:163525
Chronic Granulomatous Disease	Macule, Hepatomegaly, Sinusitis, Liver abscess, Eczema, Hypermelanotic macule, Abnormality of neu...	ORPHA:379
Ichthyosis Hystrix, Curth-Macklin Type	Hyperkeratotic papule, Scaling skin, Palmoplantar keratoderma	OMIM:146590
Mixed Connective Tissue Disease	Hemolytic anemia, Alopecia, Myositis, Pericarditis, Skin rash, Gastritis, Joint stiffness, Hepato...	ORPHA:809
Neuropathy, Hereditary Sensory, Type If	Hyperkeratosis, Osteomyelitis	OMIM:615632
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Hepatomegaly, Inguinal hernia, Redundant neck skin, Ventricular septal defect, Short neck, Postna...	ORPHA:1655
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy	Nonketotic hypoglycemia, Large for gestational age, Increased circulating free fatty acid level, ...	ORPHA:293964
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skin Abnormalities	Elbow hypertrichosis, Eczema, Obesity, Long eyelashes, Dry skin	OMIM:620191
Adrenocortical Carcinoma	Increased urinary cortisol level, Striae distensae, Diabetes mellitus, Paradoxical increased cort...	ORPHA:1501
Meningococcal Meningitis	Fever, Renal insufficiency, Elevated circulating C-reactive protein concentration, Anorexia, Hypo...	ORPHA:33475
Prader-Willi Syndrome	Hypopigmentation of the skin, Hypopigmentation of hair, Diabetes mellitus, Decreased response to ...	ORPHA:739
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia	Hypoparathyroidism, Alopecia, Atrophic gastritis, Chronic active hepatitis, Asplenia, Iridocyclit...	OMIM:240300
Chime Syndrome	Ventricular septal defect, Erythema, Osteolysis, Tetralogy of Fallot, Fine hair, Skin ulcer, Hype...	ORPHA:3474
Dyskeratosis Congenita, Autosomal Dominant 1	Ridged nail, Alopecia, Aplastic anemia, Thrombocytopenia, Osteoporosis, Nail pits, Reticular hype...	OMIM:127550
Noonan Syndrome 6	Curly hair, Juvenile myelomonocytic leukemia, Short stature, Long eyebrows, Short neck, Cryptorch...	OMIM:613224
Osteopetrosis, Autosomal Recessive 1	Sandwich appearance of vertebral bodies, Increased bone mineral density, Osteomyelitis, Failure t...	OMIM:259700
Uruguay Faciocardiomusculoskeletal Syndrome	Elevated circulating creatine kinase concentration, Limited elbow movement, Cardiomegaly, Synophr...	OMIM:300280
Complement Component C1S Deficiency	Hepatitis, Hashimoto thyroiditis	OMIM:613783
Griscelli Syndrome Type 2	Fever, Hepatomegaly, Hypopigmentation of hair, Partial albinism, Splenomegaly, Jaundice, Hyperlip...	ORPHA:79477
Harlequin Ichthyosis	Ichthyosis, Hyperkeratosis, Congenital ichthyosiform erythroderma, Erythroderma	ORPHA:457
Bacterial Toxic-Shock Syndrome	Myositis, Sinusitis, Fasciitis, Elevated circulating creatine kinase concentration, Increased cir...	ORPHA:36234
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes	Alopecia, Cachexia, Hypomagnesemia, Anemia, Hypokalemia, Hypocalcemia, Nail dystrophy, Nail dyspl...	OMIM:175500
Familial Multiple Nevi Flammei	Hypermelanotic macule, Skin ulcer, Scoliosis, Nevus flammeus, Irregular hyperpigmentation, Papule	ORPHA:624
Focal Dermal Hypoplasia	Ridged nail, Linear hyperpigmentation, Brittle hair, Congenital diaphragmatic hernia, Absent fing...	OMIM:305600
Sulfite Oxidase Deficiency, Isolated	Eczema, Fine hair	OMIM:272300
Alg12-Cdg	Elevated hepatic transaminase, Hyponatremia, Decreased serum insulin-like growth factor 1, Abnorm...	ORPHA:79324
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Hepatomegaly, Inguinal hernia, Redundant neck skin, Ventricular septal defect, Short neck, Thyroi...	OMIM:235255
Chronic Actinic Dermatitis	Late onset atopic dermatitis, Progressive hyperpigmentation, Eczema, Allergic rhinitis, Pruritus,...	ORPHA:330064
Autosomal Agammaglobulinemia	Sinusitis, Osteomyelitis, Skin rash, Recurrent skin infections, Neutropenia, Bronchiectasis, Hepa...	ORPHA:33110
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function	Ectopic posterior pituitary, Anterior pituitary hypoplasia, Decreased response to growth hormone ...	ORPHA:226307
Baralle-Macken Syndrome	Kyphosis, Hirsutism, Obesity, Cafe-au-lait spot, Striae distensae	OMIM:619255
Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome	Comedonal acne, Follicular hyperkeratosis	OMIM:615147
Mucopolysaccharidosis, Type Vii	Short neck, Flexion contracture, Coarse hair, Reduced leukocyte beta-glucuronidase activity, Ante...	OMIM:253220
Autosomal Dominant Hypocalcemia	Alopecia, Abnormal fingernail morphology, Eczema, Reduced bone mineral density, Hyperphosphatemia...	ORPHA:428
Luscan-Lumish Syndrome	Aggressive behavior, Obesity, Polycystic ovaries, High anterior hairline, Polyphagia, Hirsutism	OMIM:616831
Fibrodysplasia Ossificans Progressiva	Small cervical vertebral bodies, Progressive cervical vertebral spine fusion, Alopecia, Ectopic o...	OMIM:135100
Microscopic Polyangiitis	Episcleritis, Increased inflammatory response, Pericarditis, Sinusitis, Skin rash, Peritonitis, E...	ORPHA:727
Felty Syndrome	Sinusitis, Subcutaneous nodule, Neutropenia, Chronic otitis media, Abnormal lymphocyte morphology...	ORPHA:47612
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency	Aplasia/Hypoplasia of the skin, Skin ulcer, Abnormality of skin pigmentation, Thin skin, Purpura	ORPHA:743
Congenital Disorder Of Glycosylation, Type Iih	Failure to thrive in infancy, Elevated circulating aspartate aminotransferase concentration, Elev...	OMIM:611182
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome	Multiple joint contractures, Overweight, Cryptorchidism, Follicular hyperkeratosis, Dry skin	ORPHA:486815
Giant Axonal Neuropathy	Facial palsy, Abnormal pituitary gland morphology, Scoliosis, Woolly hair, Limb muscle weakness, ...	ORPHA:643
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome	Elevated circulating growth hormone concentration, Enlarged polycystic ovaries, Insulin-resistant...	ORPHA:90301
Cushing Syndrome Due To Ectopic Acth Secretion	Adrenal hyperplasia, Pancreatoblastoma, Pituitary corticotropic cell adenoma, Neoplasm of the thy...	ORPHA:99889
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Intermittent thrombocytopenia, Abnormal CD4:CD8 ratio, Splenomegaly, Recurrent pneumonia, Pyoderm...	OMIM:150550
Warty Dyskeratoma	Abnormal fingernail morphology, Acrokeratosis, Umbilicated nodule, Skin-colored papule, Acantholy...	ORPHA:69745
Cog4-Cdg	Elevated hepatic transaminase, Fatal liver failure in infancy, Failure to thrive in infancy, Thic...	ORPHA:263501
Gm1 Gangliosidosis	Abnormal form of the vertebral bodies, Decreased beta-galactosidase activity, Aspiration pneumoni...	ORPHA:354
Aplasia Cutis-Myopia Syndrome	Aplasia cutis congenita, Skin ulcer	ORPHA:1117
Lymphoid Interstitial Pneumonia	Fever, Hepatomegaly, Weight loss, Hypoxemia, Abnormality of connective tissue, Failure to thrive,...	ORPHA:79128
Naegeli-Franceschetti-Jadassohn Syndrome	Subungual hyperkeratosis, Anhidrosis, Decreased number of sweat glands, Flexion contracture of fi...	ORPHA:69087
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 8	Distal lower limb amyotrophy, Hip contracture, Nonprogressive muscular atrophy, Spinal muscular a...	OMIM:600175
Transketolase Deficiency	Conjunctivitis, Uveitis, Seborrheic dermatitis	ORPHA:488618
Parastremmatic Dwarfism	Severe short stature, Short neck, Kyphosis, Flexion contracture, Scoliosis	OMIM:168400
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome	Short stature, Camptodactyly of finger, Acute rhabdomyolysis, Kyphosis, Osteoporosis, Long eyelas...	ORPHA:48431
Adult Syndrome	Sparse scalp hair, Absent nipple, Fair hair, Eczema, Sparse axillary hair, Dry skin, Nail pits, C...	OMIM:103285
Metaphyseal Chondrodysplasia, Jansen Type	Osteopenia, Hip contracture, Hypoparathyroidism, Severe short stature, Hypercalcemia, Knee flexio...	OMIM:156400
Johnson Neuroectodermal Syndrome	Absent eyebrow, Alopecia, Failure to thrive, Severe short stature, Facial palsy, Absent eyelashes...	ORPHA:2316
X-Linked Acrogigantism	Enlarged pituitary gland, Decreased thyroid-stimulating hormone level, Increased body mass index,...	ORPHA:300373
Classic Phenylketonuria	Hypopigmentation of hair, Eczema, Lack of skin elasticity	ORPHA:79254
Milroy Disease	Erysipelas, Hydrocele testis, Hyperkeratosis, Cellulitis, Toenail dysplasia	ORPHA:79452
Autosomal Recessive Malignant Osteopetrosis	Hepatomegaly, Abnormal pulmonary valve morphology, Craniosynostosis, Abnormality of hair texture,...	ORPHA:667
Ifap Syndrome 1, With Or Without Bresheck Syndrome	Ichthyosis follicularis, Atrichia, Scaling skin, Periungual erythema, Dystrophic fingernails, Abs...	OMIM:308205
Neuropathy, Hereditary Sensory And Autonomic, Type Ic	Anhidrosis, Osteomyelitis, Skin ulcer	OMIM:613640
S-Adenosylhomocysteine Hydrolase Deficiency	Elevated hepatic transaminase, Elevated circulating creatine kinase concentration, Abnormal circu...	ORPHA:88618
Adamantinoma	Pathologic fracture, Hypercalcemia	ORPHA:55881
Nephropathy-Deafness-Hyperparathyroidism Syndrome	Hyperparathyroidism, Bone cyst, Hypercalcemia, Anemia	ORPHA:2668
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome	Sparse scalp hair, Alopecia, Absent eyebrow, Absent eyelashes, Hydrocele testis, Sparse body hair	ORPHA:69735
Occipital Horn Syndrome	Osteopenia, Coarse hair, Femoral hernia, Osteomalacia, Scarring, Hiatus hernia, Osteoporosis, Hep...	ORPHA:198
Mucoepithelial Dysplasia, Hereditary	Alopecia, Pneumonia, Recurrent pneumonia, Chronic mucocutaneous candidiasis, Keratoconjunctivitis...	OMIM:158310
Epidermolysis Bullosa Simplex With Muscular Dystrophy	Alopecia, Aplasia/Hypoplasia of the skin, Abnormal dental enamel morphology, Hyperconvex fingerna...	ORPHA:257
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset	Elevated circulating creatine kinase concentration, Short neck, Spinal rigidity, Kyphosis, Hyperl...	OMIM:300718
Neuroleptic Malignant Syndrome	Elevated hepatic transaminase, Hyponatremia, Fever, Proteinuria, Elevated circulating creatine ki...	ORPHA:94093
Kury-Isidor Syndrome	Sacral dimple, Alopecia, Ventricular septal defect, Short neck, Growth delay, Scoliosis, Recurren...	OMIM:619762
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections	Recurrent skin infections, Atopic dermatitis, Cellulitis, Recurrent otitis media, Cutaneous abscess	OMIM:618944
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome	Joint laxity, Dorsocervical fat pad, Small for gestational age, Kyphoscoliosis, Short neck, Propo...	ORPHA:391408
Localized Junctional Epidermolysis Bullosa	Dental enamel pits, Limb joint contracture, Sparse axillary hair, Sparse pubic hair, Scarring alo...	ORPHA:251393
Mucolipidosis Type Ii	Dry hair, White hair, Knee flexion contracture, Otitis media, Patent foramen ovale, Short stature...	ORPHA:576
Inflammatory Skin And Bowel Disease, Neonatal, 1	Perianal erythema, Pustule, Paronychia, Perioral erythema, Erythroderma, Failure to thrive, Bleph...	OMIM:614328
Rhizomelic Syndrome, Urbach Type	Abnormal hair quantity, Acne, Short stature, Rhizomelia, Short neck, Kyphosis, Limitation of join...	ORPHA:3098
Autoimmune Disease, Multisystem, With Facial Dysmorphism	Thoracic kyphoscoliosis, Hepatomegaly, Lumbar hyperlordosis, Failure to thrive in infancy, Pancyt...	OMIM:613385
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome	Elevated hepatic transaminase, Hepatomegaly, Loss of subcutaneous adipose tissue in limbs, Diabet...	OMIM:615381
Primary Erythromelalgia	Erythema, Hypothermia	ORPHA:90026
Idiopathic Hypereosinophilic Syndrome	Myelofibrosis, Skeletal muscle atrophy, Generalized lymphadenopathy, Cholangitis, Colitis, Pallor...	ORPHA:3260
Paget Disease Of Bone 2, Early-Onset	Sandwich appearance of vertebral bodies, Hypercalcemia, Fractures of the long bones, Osteolysis, ...	OMIM:602080
Uremic Pruritus	Inflammatory abnormality of the skin, Recurrent skin infections, Hypercalcemia, Renal hypophospha...	ORPHA:94059
Gm1-Gangliosidosis, Type I	Beaking of vertebral bodies, Hepatomegaly, Inguinal hernia, Severe short stature, Abnormal heart ...	OMIM:230500
Familial Isolated Hyperparathyroidism	Osteopenia, Hypercalcemia, Primary hyperparathyroidism, Hypophosphatemia, Parathyroid adenoma, Ge...	ORPHA:99879
Cartilage-Hair Hypoplasia	Short neck, Abnormal form of the vertebral bodies, Hypocalcemia, Neutropenia, Abnormal bone ossif...	ORPHA:175
Cholesteryl Ester Storage Disease	Acute hepatic failure, Decreased HDL cholesterol concentration, Adrenal calcification, Hepatic fi...	OMIM:278000
Mantle Cell Lymphoma	Splenomegaly, Lymphadenopathy, Weight loss	ORPHA:52416
Even-Plus Syndrome	Highly arched eyebrow, Synophrys, Atopic dermatitis, Sparse hair, Aplasia cutis congenita	OMIM:616854
Chronic Graft Versus Host Disease	Alopecia, Fasciitis, Urinary bladder inflammation, Thickened skin, Erythema, Xerostomia, Intermit...	ORPHA:99921
Vulto-Van Silfhout-De Vries Syndrome	Widow's peak, Horizontal eyebrow, Fine hair	OMIM:615828
Schimke Immunoosseous Dysplasia	Osteopenia, Short neck, Bilateral cryptorchidism, Abnormal T cell morphology, Coarse hair, Thorac...	OMIM:242900
Distal Duplication 6P	Abnormal hair quantity, Sacral dimple, Short stature, Short neck, Abnormal eyelash morphology, Fi...	ORPHA:1745
Pulmonary Blastoma	Recurrent pneumonia, Weight loss	ORPHA:64741
Renal Glucosuria	Polyuria, Enuresis nocturna, Glycosuria, Polydipsia, Polyphagia	OMIM:233100
2P21 Microdeletion Syndrome	Growth delay, Failure to thrive, Long eyelashes, Hypocalcemia	ORPHA:163693
Lethal Acantholytic Erosive Disorder	Absent eyebrow, Acantholysis, Absent eyelashes, Absent toenail, Absent fingernail, Congenital alo...	ORPHA:158687
Noonan Syndrome 7	Curly hair, Numerous nevi, Short stature, Short neck, Large for gestational age, Low posterior ha...	OMIM:613706
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency	Decreased testicular size, Hypergonadotropic hypogonadism, Hypospadias, Elevated circulating lute...	ORPHA:90796
Satoyoshi Syndrome	Alopecia, Short stature, Osteolytic defects of the phalanges of the hand, Skeletal muscle hypertr...	OMIM:600705
Muscular Dystrophy, Congenital, Davignon-Chauveau Type	Joint contracture, Dry skin, Follicular hyperkeratosis	OMIM:617066
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type	Abnormal circulating enzyme concentration or activity, Hypopigmentation of hair, Ataxia, Inabilit...	ORPHA:70472
Autosomal Dominant Polycystic Kidney Disease	Renal insufficiency, Polycystic liver disease, Recurrent urinary tract infections, Decreased glom...	ORPHA:730
Cdkl5-Deficiency Disorder	Kyphosis, Synophrys, Growth delay, Inappropriate laughter, Scoliosis	ORPHA:505652
Mccune-Albright Syndrome	Aneurysmal bone cyst, Osteomalacia, Hepatitis, Ovarian cyst, Scoliosis, Monostotic fibrous dyspla...	ORPHA:562
Trisomy 18P	Facial palsy, Highly arched eyebrow, Bilateral cryptorchidism, Attention deficit hyperactivity di...	ORPHA:1715
Kleine-Levin Hibernation Syndrome	Polyphagia	OMIM:148840
Spondyloepiphyseal Dysplasia, Kondo-Fu Type	Inguinal hernia, Small for gestational age, Short stature, Kyphosis, Reduced bone mineral density...	OMIM:618392
Arthrogryposis, Renal Dysfunction, And Cholestasis 1	Elevated hepatic transaminase, Giant cell hepatitis, Ventricular septal defect, Small for gestati...	OMIM:208085
Hypopigmentation, Organomegaly, And Delayed Myelination And Development	Hepatomegaly, Hypopigmentation of hair, Short stature, Splenomegaly, Growth delay, Osteopetrosis,...	OMIM:618541
Menkes Disease	Hypopigmentation of hair, Inguinal hernia, Hypoglycemia, Hypothermia, Aplasia/Hypoplasia of the a...	ORPHA:565
Relapsing Polychondritis	Abnormal endocardium morphology, Episcleritis, Pericarditis, Alopecia, Macule, Chondritis of pinn...	ORPHA:728
Autoimmune Hepatitis	Elevated hepatic transaminase, Viral hepatitis, Diffuse hepatic steatosis, Glomerulonephritis, Sp...	ORPHA:2137
Renal-Hepatic-Pancreatic Dysplasia 1	Asplenia, Hepatic fibrosis, Hepatomegaly, Portal hypertension, Malformation of the hepatic ductal...	OMIM:208540
Focal Dermal Hypoplasia	Acute hepatic failure, Congenital diaphragmatic hernia, Subcutaneous nodule, Abnormality of skin ...	ORPHA:2092
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2	Small for gestational age, Short stature, Kyphoscoliosis, Hyperlordosis, Increased vertebral heig...	OMIM:616817
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Uveitis, Hyperconvex fingernails, Conjunctivitis, Sparse hair, Abnormality of the nail, Papule, A...	ORPHA:2273
Majeed Syndrome	Hepatomegaly, Increased bone mineral density, Inflammatory abnormality of the skin, Acne, Osteomy...	ORPHA:77297
Macrophage Activation Syndrome	Increased inflammatory response, Hepatomegaly, Hypertriglyceridemia, Elevated circulating asparta...	ORPHA:158061
19Q13.11 Microdeletion Syndrome	Failure to thrive, Ventricular septal defect, Supernumerary nipple, Cachexia, Cryptorchidism, Fin...	ORPHA:217346
Beckwith-Wiedemann Syndrome	Ureteral duplication, Redundant skin, Congenital diaphragmatic hernia, Large for gestational age,...	ORPHA:116
Poems Syndrome	Sclerosis of hand bone, Lipodystrophy, Sclerosis of foot bone, Pericardial effusion, Abnormality ...	ORPHA:2905
Hyperpigmentation With Or Without Hypopigmentation, Familial Progressive	Hypermelanotic macule, Hypopigmented skin patches, Hyperkeratosis, Multiple lentigines, Cafe-au-l...	OMIM:145250
Refractory Celiac Disease	Normocytic anemia, Elevated hepatic transaminase, Inflammatory abnormality of the skin, Macrocyti...	ORPHA:398063
Spastic Paraplegia 53, Autosomal Recessive	Kyphosis, Joint hyperflexibility, Lower limb hypertonia, Upper limb hypertonia, Hypertrichosis	OMIM:614898
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal	Joint contracture, Inguinal hernia, Hypothermia, Limb hypertonia	OMIM:614498
Koolen-De Vries Syndrome	Bicuspid aortic valve, Atrial septal defect, Iris hypopigmentation, Vertebral fusion, Short statu...	OMIM:610443
Hyperparathyroidism, Neonatal Severe	Calcinosis, Hepatomegaly, Hypercalcemia, Recurrent fractures, Splenomegaly, Primary hyperparathyr...	OMIM:239200
Fibrosis Of Extraocular Muscles, Congenital, 3C	Congenital fibrosis of extraocular muscles, Kyphosis, Highly arched eyebrow	OMIM:609384
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta	Chronic oral candidiasis, Pneumonia, Eosinophilia, Recurrent pneumonia, Hepatitis, Hepatosplenome...	ORPHA:169160
Immunodeficiency 7	Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Hypereosinophilia, Neutropenia, Lymphade...	OMIM:615387
Tonne-Kalscheuer Syndrome	Short stature, Congenital diaphragmatic hernia, Concave nail, Shyness, Cryptorchidism, Blue iride...	OMIM:300978
Albinism, Oculocutaneous, Type Iii	Red hair, Partial albinism, Albinism	OMIM:203290
Mitochondrial Complex I Deficiency, Nuclear Type 11	Hepatomegaly, Kyphosis, Osteoporosis, Myopathy, Pigmentary retinopathy, Macrovesicular hepatic st...	OMIM:618234
Koolen-De Vries Syndrome	Vertebral fusion, Hypopigmentation of hair, Bicuspid aortic valve, Abnormal dental enamel morphol...	ORPHA:96169
Bile Acid Synthesis Defect, Congenital, 3	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Hepatic bridging fib...	OMIM:613812
Diaphanospondylodysostosis	Inguinal hernia, Nephrogenic rest, Nephroblastomatosis, Horseshoe kidney, Abnormal liver lobulati...	OMIM:608022
Cutaneous Telangiectasia And Cancer Syndrome, Familial	Ridged nail, Alopecia, Yellow nails, Onycholysis, Nail dystrophy, Sparse lateral eyebrow	OMIM:614564
Localized Scleroderma	Skeletal muscle atrophy, Fasciitis, Flexion contracture, Uveitis, Hashimoto thyroiditis, Abnormal...	ORPHA:90289
Developmental And Epileptic Encephalopathy 78	Inability to walk, Hypothermia	OMIM:618557
Scheuermann Disease	Kyphosis, Morbus Scheuermann	OMIM:181440
Chondrodysplasia Punctata, Autosomal Dominant	Sparse hair, Hyperkeratosis with erythema, Coarse hair	OMIM:118650
Intellectual Developmental Disorder, X-Linked 82	Kyphosis, Scoliosis	OMIM:300518
Primary Sclerosing Cholangitis	Osteopenia, Acute hepatic failure, Abnormal eosinophil morphology, Uveitis, Hypoalbuminemia, Gene...	ORPHA:171
Bare Lymphocyte Syndrome, Type I	Chronic otitis media, Chronic sinusitis, Bronchiectasis, Skin ulcer	OMIM:604571
Acquired Purpura Fulminans	Macule, Erythematous macule, Skin rash, Elevated circulating C-reactive protein concentration, Py...	ORPHA:49566
Vitamin D-Dependent Rickets, Type 2A	Thin bony cortex, Recurrent fractures, Delayed epiphyseal ossification, Rickets, Growth delay, Sp...	OMIM:277440
Intellectual Developmental Disorder, Autosomal Dominant 1	Ataxia, Highly arched eyebrow, Aggressive behavior, Low posterior hairline, Self-injurious behavi...	OMIM:156200
Intellectual Developmental Disorder, Autosomal Dominant 26	Inguinal hernia, Small for gestational age, Short stature, Highly arched eyebrow, Kyphosis, Umbil...	OMIM:615834
Neuropathy, Hereditary Sensory And Autonomic, Type Iib	Episodic hyperhidrosis, Osteomyelitis, Acral ulceration	OMIM:613115
Arthrogryposis, Renal Dysfunction, And Cholestasis 2	Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Ventricular septal defect, Pru...	OMIM:613404
Adams-Oliver Syndrome	Alopecia, Aplasia/Hypoplasia of the skin, Failure to thrive, Abnormal pulmonary valve morphology,...	ORPHA:974
Hypercalcemia, Infantile, 1	Failure to thrive, Hypercalcemia, Weight loss	OMIM:143880
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Hepatomegaly, Renal insufficiency, Portal hypertension, Absence of renal corticomedullary differe...	OMIM:263200
Immunodeficiency 50	Eczema	OMIM:300988
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Methylmalonic acidemia, Hypomethioninemia, Glomerulopathy, Ketonuria, Ataxia, Renal insufficiency...	ORPHA:79282
Timothy Syndrome	Hypoglycemia, Hypothermia, Cardiomegaly, Hypocalcemia, Hypothyroidism	OMIM:601005
Toxic Epidermal Necrolysis	Macule, Acantholysis, Erythema, Skin ulcer, Weight loss, Conjunctivitis, Pancreatitis	ORPHA:537
Platelet-Activating Factor Acetylhydrolase Deficiency	Platelet-activating factor acetylhydrolase deficiency, Increased level of platelet-activating factor	OMIM:614278
Autosomal Recessive Cutis Laxa Type 2, Classic Type	Decreased muscle mass, Redundant neck skin, Inguinal hernia, Thick hair, Redundant skin, Lipodyst...	ORPHA:357074
Eec Syndrome	Aplasia/Hypoplasia of the skin, Slow-growing hair, Decreased response to growth hormone stimulati...	ORPHA:1896
Lipodystrophy, Familial Partial, Type 2	Decreased HDL cholesterol concentration, Adipose tissue loss, Increased intraabdominal fat, Hyper...	OMIM:151660
Cerebroretinal Microangiopathy With Calcifications And Cysts 1	Osteopenia, Short stature, Postnatal growth retardation, Thrombocytopenia, Osteoporosis, Fine hai...	OMIM:612199
Q Fever	Abnormality of the liver, Cholecystitis, Infectious encephalitis, Hepatomegaly, Maculopapular exa...	ORPHA:781
Syndromic Recessive X-Linked Ichthyosis	Cryptorchidism, Hypohidrosis, Hyperkeratosis, Ichthyosis, Testicular seminoma	ORPHA:281090
7Q11.23 Microduplication Syndrome	Collectionism, Hyperactivity, Inguinal hernia, Hypospadias, Congenital diaphragmatic hernia, Aggr...	ORPHA:96121
Trichorhinophalangeal Syndrome, Type I	Osteopenia, Scapular winging, Ivory epiphyses of the distal phalanges of the hand, Slow-growing h...	OMIM:190350
Hepatocellular Carcinoma	Hepatocellular carcinoma, Micronodular cirrhosis, Subacute progressive viral hepatitis	OMIM:114550
Srd5A3-Cdg	Elevated hepatic transaminase, Decreased response to growth hormone stimulation test, Microcytic ...	ORPHA:324737
Congenital Enterovirus Infection	Fever, Hypothermia, Hepatitis, Hyperammonemia, Cholestasis, Hypoalbuminemia, Hepatic failure	ORPHA:292
Combined Immunodeficiency-Enteropathy Spectrum	Omphalocele, Absent eyebrow, Autoimmune hemolytic anemia, Psoriasiform dermatitis, Ventricular se...	ORPHA:436252
Autoimmune Polyendocrinopathy Type 1	Hypoparathyroidism, Alopecia, Adrenal hyperplasia, Abnormal fingernail morphology, Primary adrena...	ORPHA:3453
Reactive Arthritis	Pericarditis, Osteomyelitis, Pustule, Enthesitis, Weight loss, Hyperkeratosis, Inflammation of th...	ORPHA:29207
Tbck-Related Intellectual Disability Syndrome	Skeletal muscle atrophy, Neurogenic bladder, Hyperthyroidism, Decreased response to growth hormon...	ORPHA:488632
Cystic Echinococcosis	Abnormal peritoneum morphology, Abnormality of the testis size, Elevated gamma-glutamyltransferas...	ORPHA:400
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities	Fever, Hip contracture, Abnormality of temperature regulation, Hypothermia, Inability to walk, Un...	OMIM:618493
Familial Benign Chronic Pemphigus	Acantholysis, Erythema, Hyperkeratosis, Skin vesicle, Skin erosion	ORPHA:2841
Blau Syndrome	Pericarditis, Skin rash, Camptodactyly of finger, Keratitis, Retrobulbar optic neuritis, Erythema...	ORPHA:90340
Nephronophthisis 2	Absence of renal corticomedullary differentiation, Elevated circulating creatinine concentration,...	OMIM:602088
Cardiofaciocutaneous Syndrome 1	Osteopenia, Hyperextensibility of the finger joints, Numerous nevi, Short neck, Hyperhidrosis, Sp...	OMIM:115150
Autoimmune Polyendocrine Syndrome, Type Ii	Alopecia, Asplenia, Hepatitis, Chronic mucocutaneous candidiasis, Keratoconjunctivitis, Chronic h...	OMIM:269200
Myopathic Ehlers-Danlos Syndrome	Congenital muscular torticollis, Decreased muscle mass, Multiple joint contractures, Flexion cont...	ORPHA:536516
Williams-Beuren Syndrome	Osteopenia, Bicuspid aortic valve, Flexion contracture, Premature graying of hair, Atrial septal ...	OMIM:194050
Mitochondrial Myopathy And Sideroblastic Anemia	Kyphosis, Generalized limb muscle atrophy, Myopathy, Scoliosis, Delayed puberty, Distichiasis, An...	ORPHA:2598
Classical-Like Ehlers-Danlos Syndrome Type 2	Osteopenia, Ventral hernia, Alopecia, Widened atrophic scar, Sacral dimple, Redundant skin, Ingui...	ORPHA:536532
Brachyolmia Type 1, Hobaek Type	Osteopenia, Back pain, Short neck, Kyphosis, Disproportionate short-trunk short stature, Squared-...	OMIM:271530
Oculocutaneous Albinism Type 1A	Hyperkeratosis, Thickened skin, Hypopigmentation of hair, Albinism	ORPHA:79431
Bleeding Disorder, Platelet-Type, 21	Alopecia, Psoriasiform dermatitis, Eczema	OMIM:617443
Alexander Disease	Diabetes mellitus, Ataxia, Facial palsy, Hypothermia, Precocious puberty, Self-injurious behavior...	ORPHA:58
Keutel Syndrome	Alopecia, Ventricular septal defect, Short stature, Dermal atrophy, Recurrent sinusitis, Recurren...	ORPHA:85202
Rett Syndrome	Increased serum pyruvate, Skeletal muscle atrophy, Inability to walk, Hyperammonemia, Agitation, ...	ORPHA:778
Hypercalcemia, Infantile, 2	Failure to thrive, Hypercalcemia, Hypophosphatemia	OMIM:616963
Weaver Syndrome	Deep-set nails, Inguinal hernia, Thin nail, Diastasis recti, Cryptorchidism, Fine hair, Hydrocele...	OMIM:277590
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome	Osteopenia, Sparse facial hair, Aplasia of the ovary, Small hypothenar eminence, Alopecia, Lumbar...	ORPHA:2232
Renpenning Syndrome 1	Brittle hair, Ventricular septal defect, Short stature, Situs inversus totalis, Tetralogy of Fall...	OMIM:309500
Atelis Syndrome 1	Eczema, Bronchiectasis, Dry skin, Cafe-au-lait spot, Hypothyroidism	OMIM:620184
Symptomatic Form Of Hfe-Related Hemochromatosis	Decreased muscle mass, Cardiomegaly, Stiff interphalangeal joints, Generalized bronze hyperpigmen...	ORPHA:465508
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome	Absent eyebrow, Alopecia, Inguinal hernia, Ventricular septal defect, Short stature, Craniosynost...	ORPHA:166035
Kaposi Sarcoma	Macule, Generalized lymphadenopathy, Skin rash, Hypermelanotic macule, Abnormality of the spleen,...	ORPHA:33276
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome	Kyphosis, Synophrys, Scoliosis, Hypertrichosis	ORPHA:85317
Spinocerebellar Ataxia 34	Erythroderma, Epidermal hyperkeratosis	OMIM:133190
Short Syndrome	Alopecia, Inguinal hernia, Lipodystrophy, Abnormal dental enamel morphology, Severe short stature...	ORPHA:3163
Hutchinson-Gilford Progeria Syndrome	Alopecia, Absence of subcutaneous fat, Osteolysis, Growth delay, Generalized osteoporosis	OMIM:176670
Blue Diaper Syndrome	Abnormal circulating tryptophan concentration, Hypercalcemia	OMIM:211000
Spondylometaphyseal Dysplasia, X-Linked	Hip contracture, Hyperextensibility of the finger joints, Severe short stature, Thoracolumbar sco...	OMIM:313420
Glucagonoma	Neoplasm of the pancreas, Hepatomegaly, Skin rash, Hypercalcemia, Elevated circulating growth hor...	ORPHA:97280
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis	Psoriasiform dermatitis, Acne, Osteomyelitis, Skin rash, Elevated circulating C-reactive protein ...	ORPHA:324964
Autosomal Recessive Polycystic Kidney Disease	Cholangitis, Biliary hyperplasia, Abnormal intrahepatic bile duct morphology, Hepatic fibrosis, E...	ORPHA:731
Hemifacial Atrophy, Progressive	Kyphosis, Patchy alopecia, Poliosis	OMIM:141300
Congenital Hyperinsulinism Due To Hnf4A Deficiency	Elevated hepatic transaminase, Hepatomegaly, Proteinuria, Large for gestational age, Abnormal cir...	ORPHA:263455
Hypercarotenemia And Vitamin A Deficiency, Autosomal Recessive	Follicular hyperkeratosis	OMIM:277350
Primary Sjögren Syndrome	Normocytic anemia, Myositis, Chronic active hepatitis, Tubulointerstitial nephritis, Leukopenia, ...	ORPHA:289390
Epidermolysis Bullosa Dystrophica, Autosomal Recessive	Alopecia, Flexion contracture, Corneal scarring, Growth delay, Atrophic scars, Conjunctivitis, Na...	OMIM:226600
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency	Alopecia, Unsteady gait, Truncal ataxia, Limb ataxia, Distal amyotrophy, Hypogonadism, Type II di...	ORPHA:412057
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Osteopenia, Hypoparathyroidism, Hypertriglyceridemia, Hypercalcemia, Craniosynostosis, Obesity, L...	ORPHA:369837
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Sclerotic vertebral body, Kyphosis, Increased skull ossification, Craniofacial osteosclerosis, Di...	OMIM:618476
Autoimmune Polyendocrinopathy Type 2	Hypoparathyroidism, Alopecia, Primary adrenal insufficiency, Hypopigmented skin patches, Graves d...	ORPHA:3143
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum	Anterior uveitis, Inflammatory abnormality of the skin, Skin rash, Pneumonia, Trichiasis, Acantho...	ORPHA:95455
Citrullinemia Type Ii	Decreased HDL cholesterol concentration, Acute hyperammonemia, Hepatic fibrosis, Hypoalbuminemia,...	ORPHA:247585
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Abnormality of retinal pigmentation, Proteinuria, Thick hair, Heparan sulfate excretion in urine,...	ORPHA:505248
Hall-Riggs Syndrome	Slow-growing hair, Abnormal dental enamel morphology, Thick hair, Joint stiffness, Short stature,...	ORPHA:2107
Rothmund-Thomson Syndrome Type 2	Osteopenia, Aplastic anemia, Facial erythema, Neutropenia, Sparse hair, Hypopigmentation of the s...	ORPHA:221016
Blue Diaper Syndrome	Elevated hepatic transaminase, Increased body weight, Hyperphosphatemia, Hypercalcemia	ORPHA:94086
Grubben-De Cock-Borghgraef Syndrome	Dry skin, Eczema	ORPHA:2101
Acute Generalized Exanthematous Pustulosis	Predominantly dermal neutrophilic infiltrate, Acantholysis, Pruritus, Pustule, Cheilitis, Eosinop...	ORPHA:293173
Intellectual Developmental Disorder, Autosomal Dominant 48	Eczema, Highly arched eyebrow, Synophrys, Recurrent pneumonia, Recurrent otitis media, Umbilical ...	OMIM:617751
Cutis Laxa, Autosomal Recessive, Type Iiib	Osteopenia, Inguinal hernia, Cryptorchidism, Flexion contracture, Elbow flexion contracture, Oste...	OMIM:614438
Rothmund-Thomson Syndrome Type 1	Osteopenia, Aplastic anemia, Facial erythema, Neutropenia, Sparse hair, Hypopigmentation of the s...	ORPHA:221008
Albers-Schönberg Osteopetrosis	Abnormal leukocyte morphology, Osteomyelitis, Short stature, Facial palsy, Recurrent fractures, M...	ORPHA:53
Liver Disease, Severe Congenital	Chronic gastritis, Dry hair, Cardiomegaly, Biliary hyperplasia, Leukopenia, Hypocalcemia, Lymphoc...	OMIM:619991
Xeroderma Pigmentosum	Macule, Alopecia, Failure to thrive, Hypermelanotic macule, Keratitis, Cryptorchidism, Thickened ...	ORPHA:910
Lipodystrophy, Congenital Generalized, Type 4	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, Elevated circul...	OMIM:613327
Roifman Syndrome	Hip contracture, Eczema, Hyperconvex nail, Recurrent pneumonia, Prominent eyelashes, Recurrent ot...	ORPHA:353298
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2	Sparse hair, Failure to thrive, Hyperconvex nail, Eczema	OMIM:619721
Bone Fragility With Contractures, Arterial Rupture, And Deafness	Osteopenia, Contracture of the proximal interphalangeal joint of the 2nd finger, Thenar muscle at...	OMIM:612394
Congenital Disorder Of Glycosylation, Type Iil	Failure to thrive, Hypohidrosis, Hyperkeratosis, Inflammation of the large intestine, Enamel hypo...	OMIM:614576
Pediatric Systemic Lupus Erythematosus	Lymphopenia, Alopecia, Myositis, Skin rash, Pericardial effusion, Discoid lupus rash, Lymphadenop...	ORPHA:93552
Pituitary Adenoma 4, Acth-Secreting	Skeletal muscle atrophy, Striae distensae, Kyphosis, Pituitary adenoma, Osteoporosis, Obesity, Fa...	OMIM:219090
Hyperparathyroidism 2 With Jaw Tumors	Pancreatic adenocarcinoma, Hyperparathyroidism, Hypercalcemia, Parathyroid carcinoma, Recurrent p...	OMIM:145001
Myopathy, Tubular Aggregate, 2	Elevated circulating creatine kinase concentration, Ankle flexion contracture, Spinal rigidity, H...	OMIM:615883
Primary Biliary Cholangitis	Portal hypertension, Pruritus, Conjugated hyperbilirubinemia, Jaundice, Hepatic failure, Osteopor...	ORPHA:186
Noonan Syndrome 14	Curly hair, Scapular winging, Lymphopenia, Short stature, Short neck, Sparse eyebrow, Kyphosis, C...	OMIM:619745
Isolated Sedoheptulokinase Deficiency	Inguinal hernia, Short stature, Diastasis recti, Portal hypertension, Flexion contracture, Hepati...	ORPHA:440713
Superficial Epidermolytic Ichthyosis	Acantholysis, Erythema, Palmoplantar keratoderma, Thin skin, Ichthyosis	ORPHA:455
Macrocephaly/Autism Syndrome	Joint laxity, Hepatomegaly, Large for gestational age, Splenomegaly, Obesity, Cutis laxa, Hydroce...	OMIM:605309
Mu-Heavy Chain Disease	Hepatomegaly, Abnormal B cell count, Splenomegaly, Osteoporosis, Osteolysis, Weight loss, Lymphad...	ORPHA:100024
Dyskeratosis Congenita, Autosomal Recessive 6	Alopecia, Abnormality of skin pigmentation, Nail dystrophy, Bone marrow hypocellularity, Sparse h...	OMIM:616353
Fucosidosis	Generalized hyperkeratosis, Lipoatrophy, Hyperhidrosis, Failure to thrive, Hypothyroidism, Abnorm...	ORPHA:349
Mcdonough Syndrome	Short stature, Cachexia, Kyphosis, Synophrys, Aplasia/Hypoplasia of the abdominal wall musculatur...	ORPHA:2471
Thrombocytopenia-Absent Radius Syndrome	Pancreatic cysts, Seborrheic dermatitis, Nevus flammeus of the forehead	OMIM:274000
Myasthenic Syndrome, Congenital, 25, Presynaptic	Spinal rigidity, Kyphosis, Flexion contracture, Myopathy, Generalized amyotrophy, Scoliosis, Join...	OMIM:618323
Johanson-Blizzard Syndrome	Alopecia, Short stature, Dextrocardia, Abnormal hair pattern, Abnormality of the pancreas, Abnorm...	ORPHA:2315
Braddock-Carey Syndrome 1	Curly hair, Aortic valve prolapse, Ventricular septal defect, Hyperlordosis, Growth delay, Campto...	OMIM:619980
Premature Aging Syndrome, Penttinen Type	Flexion contracture of finger, Lipoatrophy, Thickened skin, Skin nodule, Palmoplantar hyperkerato...	OMIM:601812
Lysinuric Protein Intolerance	Skeletal muscle atrophy, Hepatomegaly, Hypolysinemia, Recurrent fractures, Short stature, Increas...	OMIM:222700
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8	Woolly hair	OMIM:607450
Immunodeficiency 48	Failure to thrive, Eczematoid dermatitis, Pneumonia	OMIM:269840
Hypocalciuric Hypercalcemia, Familial, Type Iii	Hypercalcemia, Osteomalacia, Primary hyperparathyroidism, Hypermagnesemia, Multiple lipomas, Hypo...	OMIM:600740
Acromesomelic Dysplasia, Maroteaux Type	Ovoid vertebral bodies, Hyperlordosis, Joint stiffness, Kyphosis, Disproportionate short stature,...	ORPHA:40
Lupus Erythematosus Tumidus	Urticarial plaque, Deep dermal perivascular inflammatory infiltrate, Scarring, Erythematous plaqu...	ORPHA:90283
Gapo Syndrome	Skin tags, Alopecia, Sparse eyelashes, Short stature, Sparse eyebrow, Early balding, Hypopigmente...	ORPHA:2067
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal	Orthokeratotic hyperkeratosis, Palmoplantar keratoderma, Nail dystrophy, Small nail, Palmoplantar...	OMIM:610644
Nicolaides-Baraitser Syndrome	Absent eyebrow, Dry hair, Sparse scalp hair, Failure to thrive, Eczema, Inguinal hernia, Cryptorc...	OMIM:601358
Multiple Myeloma	Osteopenia, Hypercalcemia, Splenomegaly, Elevated circulating creatinine concentration, Weight lo...	ORPHA:29073
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities	Eosinophilia, Kyphoscoliosis, Disproportionate short stature, Platyspondyly, Delayed ossification...	OMIM:617425
Digeorge Syndrome	Inguinal hernia, Parathyroid agenesis, Acne, Femoral hernia, Seborrheic dermatitis, Recurrent pne...	OMIM:188400
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)	Acute hepatic failure, Skeletal muscle atrophy, Microvesicular hepatic steatosis, Osteomyelitis l...	OMIM:256810
Williams Syndrome	Osteopenia, Bicuspid aortic valve, Redundant skin, Elevated circulating creatine kinase concentra...	ORPHA:904
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome	Slow-growing hair, Short stature, Short neck, Abnormal hair morphology, Kyphosis, Cryptorchidism,...	ORPHA:3082
Koolen-De Vries Syndrome Due To A Point Mutation	Hand muscle atrophy, Numerous nevi, Bicuspid aortic valve, Decreased response to growth hormone s...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Hand muscle atrophy, Numerous nevi, Bicuspid aortic valve, Decreased response to growth hormone s...	ORPHA:363958
Muscular Dystrophy, Congenital, With Cataracts And Intellectual Disability	Short stature, Elevated circulating creatine kinase concentration, Hyperlordosis, Increased adipo...	OMIM:617404
Bone Dysplasia, Lethal Holmgren Type	Hepatomegaly, Redundant neck skin, Rhizomelia, Short neck, Weight loss, Joint hyperflexibility, S...	ORPHA:1842
Oculocerebrocutaneous Syndrome	Cryptorchidism, Alopecia, Focal dermal aplasia/hypoplasia	OMIM:164180
Mpdu1-Cdg	Eczema, Decreased response to growth hormone stimulation test, Erythematous plaque, Scaling skin,...	ORPHA:79323
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism	Osteopenia, Hepatomegaly, Increased circulating thyroglobulin level, Thoracolumbar scoliosis, Sag...	OMIM:610199
Aicardi-Goutieres Syndrome 9	Hypoalbuminemia, Hepatic fibrosis, Hepatic steatosis, Hemolytic anemia, Hepatomegaly, Chilblains,...	OMIM:619487
Pseudohypoparathyroidism Type 1C	Calcinosis, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test...	ORPHA:79444
Noonan Syndrome 2	Curly hair, Mitral stenosis, Ventricular septal defect, Short stature, Short neck, Sparse eyebrow...	OMIM:605275
Vipoma	Neoplasm of the pancreas, Hepatomegaly, Hypercalcemia, Elevated circulating growth hormone concen...	ORPHA:97282
Pigmented Nodular Adrenocortical Disease, Primary, 2	Pigmented micronodular adrenocortical disease, Paradoxical increased cortisol secretion on dexame...	OMIM:610475
Nodular Lymphocyte Predominant Hodgkin Lymphoma	Hepatomegaly, Pruritus, Splenomegaly, Weight loss, Hyperhidrosis, Lymphadenopathy	ORPHA:86893
Meckel Syndrome, Type 8	Enlarged kidney, Polycystic kidney dysplasia, Hyperechogenic kidneys	OMIM:613885
Roifman Syndrome	Hip contracture, Eczema, Recurrent pneumonia, Prominent eyelashes, Recurrent otitis media	OMIM:616651
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant	Hip contracture, Scapular winging, Spinal muscular atrophy, Elevated circulating creatine kinase ...	OMIM:615290
Adnp Syndrome	Sparse scalp hair, Inguinal hernia, Recurrent urinary tract infections, Urinary incontinence, Ora...	ORPHA:404448
Multiple Endocrine Neoplasia Type 2	Joint laxity, Reduced subcutaneous adipose tissue, Hypercalcemia, Kyphoscoliosis, Hyperlordosis, ...	ORPHA:653
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement	Restlessness, Broad-based gait, Aggressive behavior, Cryptorchidism, Self-mutilation, Fine hair, ...	ORPHA:251028
1P36 Deletion Syndrome	Hypoplasia of penis, Abnormality of the spleen, Renal cyst, Abnormality of the liver, Hepatic ste...	ORPHA:1606
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome	Sparse eyelashes, Hyperconvex nail, Supernumerary nipple, Sparse eyebrow, Hypohidrosis, Hyperconv...	ORPHA:1071
Hurler-Scheie Syndrome	Hepatomegaly, Inguinal hernia, Short stature, Camptodactyly of finger, Joint stiffness, Thenar mu...	OMIM:607015
Renal-Hepatic-Pancreatic Dysplasia 2	Hepatomegaly, Malformation of the hepatic ductal plate, Asplenia, Cholestasis, Hepatic fibrosis, ...	OMIM:615415
Mucopolysaccharidosis, Type Iiid	Hepatomegaly, Thick eyebrow, Inguinal hernia, Thoracic scoliosis, Pilonidal sinus, Short stature,...	OMIM:252940
Congenital Disorder Of Glycosylation, Type It	Elevated hepatic transaminase, Hepatomegaly, Ventricular septal defect, Elevated circulating crea...	OMIM:614921
Blau Syndrome	Nongranulomatous uveitis, Pericarditis, Eczema, Camptodactyly of finger, Erythema nodosum, Interm...	OMIM:186580
Intellectual Developmental Disorder, Autosomal Dominant 34	Curly hair, Synophrys, Coarse hair	OMIM:616351
Dahlberg-Borer-Newcomer Syndrome	Hypoparathyroidism, Short stature, Hypohidrosis, Mitral valve prolapse, Hypocalcemia, Anonychia, ...	ORPHA:1563
2Q32Q33 Microdeletion Syndrome	Sparse hair, Decreased testicular size, Fine hair	ORPHA:251019
Immunodeficiency 85 And Autoimmunity	Failure to thrive in infancy, Eczema, Oligoarthritis, Growth delay, T lymphocytopenia, Erythroder...	OMIM:619510
Igg4-Related Kidney Disease	Elevated circulating C-reactive protein concentration, Renal interstitial immunoglobulin deposits...	ORPHA:449395
Alg9-Cdg	Omphalocele, Hepatomegaly, Hypoplasia of the bladder, Torticollis, Lipodystrophy, Ureteral hypopl...	ORPHA:79328
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency	Acute hepatic failure, Elevated hepatic transaminase, Abnormal circulating acylcarnitine concentr...	ORPHA:71212
Tietz Syndrome	Abnormality of skin pigmentation, Hypopigmentation of the skin, Hypopigmentation of hair, White e...	ORPHA:42665
Vitamin D-Dependent Rickets, Type 3	Osteopenia, Growth delay, Elevated circulating alkaline phosphatase concentration, Hypocalcemia, ...	OMIM:619073
Onychotrichodysplasia And Neutropenia	Curly hair, Curly eyelashes, Concave nail, Sparse pubic hair, Short eyelashes, Trichorrhexis nodo...	OMIM:258360
Sporadic Pheochromocytoma/Secreting Paraganglioma	Extraadrenal pheochromocytoma, Hypercalcemia, Episodic hyperhidrosis, Adrenal pheochromocytoma, W...	ORPHA:276621
Chromosome 2Q37 Deletion Syndrome	Hypothyroidism, Eczema, Highly arched eyebrow, Obesity	OMIM:600430
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections	Skin rash, Erythema, Recurrent pneumonia, Chronic mucocutaneous candidiasis, Eczematoid dermatiti...	OMIM:147060
Sting-Associated Vasculopathy, Infantile-Onset	Nailfold capillary tortuosity, Skeletal muscle atrophy, Myositis, Failure to thrive, Skin rash, L...	OMIM:615934
Cartilage-Hair Hypoplasia	Fair hair, Sparse facial hair, Neutropenia, Sparse hair, Neonatal short-limb short stature, Joint...	OMIM:250250
Fanconi-Bickel Syndrome	Hepatocellular carcinoma, Nephrocalcinosis, Fasting hypoglycemia, Nephropathy, Hepatomegaly, Elev...	ORPHA:2088
Mucopolysaccharidosis, Type Ii	Abnormality of retinal pigmentation, Inguinal hernia, Hepatomegaly, Abnormal heart valve morpholo...	OMIM:309900
Autoinflammation With Arthritis And Dyskeratosis	Failure to thrive, Thyroiditis, Uveitis, Palmoplantar hyperkeratosis, Keratoconjunctivitis sicca,...	OMIM:617388
Conductive Deafness-Ptosis-Skeletal Anomalies Syndrome	Fine hair	ORPHA:3236
Pheochromocytoma--Islet Cell Tumor Syndrome	Hypercalcemia, Axillary freckling, Hyperhidrosis, Pheochromocytoma, Cafe-au-lait spot	OMIM:171420
Rodrigues Blindness	Sparse hair, Fine hair	OMIM:268320
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1	Osteopenia, Joint laxity, Contracture of the proximal interphalangeal joint of the 2nd finger, Ky...	OMIM:130060
Aspergillosis	Sinusitis, Osteomyelitis, Pneumonia, Eosinophilia, Keratitis, Localized skin lesion, Bronchiectas...	ORPHA:1163
Intellectual Developmental Disorder, Autosomal Recessive 79	Eczema	OMIM:620393
Spondyloepiphyseal Dysplasia-Brachydactyly-Speech Disorder Syndrome	Curly hair, Short stature, Curly eyelashes, Short neck, Multiple rows of eyelashes, Cryptorchidis...	ORPHA:163654
Bullous Pemphigoid	Macule, Psoriasiform dermatitis, Eczema, Erythema, Weight loss	ORPHA:703
Adrenoleukodystrophy	Alopecia, Urinary incontinence, Primary adrenal insufficiency, Limb ataxia, Hypogonadism, Attenti...	OMIM:300100
Shashi-Pena Syndrome	Highly arched eyebrow, Nevus flammeus of the forehead, Synophrys, Kyphosis, Osteoporosis, Hypertr...	OMIM:617190
Idiopathic Achalasia	Decreased prealbumin level, Recurrent aspiration pneumonia, Weight loss	ORPHA:930
Classic Hodgkin Lymphoma	Hepatomegaly, Skin rash, Pruritus, Splenomegaly, Osteolysis, Weight loss, Hyperhidrosis, Lymphade...	ORPHA:391
Legionnaires Disease	Hyponatremia, Pericarditis, Myocarditis, Splenomegaly, Jaundice, Hepatitis, Endocarditis, Lymphad...	ORPHA:549
Ogden Syndrome	Torticollis, Inguinal hernia, Ventricular septal defect, Postnatal growth retardation, Cryptorchi...	ORPHA:276432
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome	Alopecia, Cryptorchidism, Fine hair, Intrauterine growth retardation, Coronal craniosynostosis	ORPHA:228390
Irida Syndrome	Hyperkeratosis, Pallor, Ichthyosis	ORPHA:209981
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom	Eczema, Highly arched eyebrow, Cryptorchidism, Recurrent pneumonia, Recurrent otitis media, Umbil...	ORPHA:500159
Gapo Syndrome	Hepatomegaly, Alopecia, Sparse eyelashes, Facial palsy, Epidermoid cyst, Redundant skin, Sparse e...	OMIM:230740
Adams-Oliver Syndrome 2	Alopecia, Low anterior hairline, Small nail, Aplasia cutis congenita, Limb hypertonia	OMIM:614219
Aggressive Systemic Mastocytosis	Neutropenia, Maculopapular exanthema, Portal hypertension, Leukocytosis, Osteoporosis, Hepatosple...	ORPHA:98850
Congenital Muscular Dystrophy, Ullrich Type	Torticollis, Elevated circulating creatine kinase concentration, Abnormal muscle fiber morphology...	ORPHA:75840
Adiposis Dolorosa	Recurrent skin infections, Sparse axillary hair, Sparse pubic hair, Subcutaneous nodule, Xerostom...	ORPHA:36397
Ogden Syndrome	Redundant neck skin, Redundant skin, Maternal diabetes, Cardiomegaly, Microvesicular hepatic stea...	OMIM:300855
Kawasaki Disease	Pericarditis, Abnormality of nail color, Abnormal heart valve morphology, Skin rash, Myocarditis,...	ORPHA:2331
Polyendocrine-Polyneuropathy Syndrome	Alopecia, Hypoinsulinemia, Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Ataxia, ...	ORPHA:453533
Kdm5C-Related Syndromic X-Linked Intellectual Disability	Short stature, Camptodactyly of finger, Cryptorchidism, Patchy alopecia, Multiple cafe-au-lait sp...	ORPHA:85279
Wagro Syndrome	Proteinuria, Aggressive behavior, Obesity, Agitation, Compulsive behaviors, Nephroblastoma, Polyp...	OMIM:612469
Ethylene Glycol Poisoning	Renal insufficiency, Cyanosis, Ataxia, Facial palsy, Hypothermia, Hyperkalemia, Renal tubular epi...	ORPHA:31826
Ullrich Congenital Muscular Dystrophy 1	Reduced muscle collagen VI, Distal joint laxity, Flexion contracture, Hyperextensibility at wrist...	OMIM:254090
Sialidosis Type 2	Skeletal muscle atrophy, Inguinal hernia, Hepatomegaly, Short stature, Kyphosis, Splenomegaly, Fl...	ORPHA:87876
Mycosis Fungoides	Psoriasiform dermatitis, Eczema, Pruritus, Erythema, Skin plaque	OMIM:254400
Intellectual Disability, Buenos-Aires Type	Abnormal fingernail morphology, Short stature, Hyperconvex thumb nails, Fine hair, Reduced bone m...	ORPHA:3079
Spondyloenchondrodysplasia	Pancytopenia, Autoimmune hemolytic anemia, Skin rash, Pneumonia, Short stature, Autoimmune thromb...	ORPHA:1855
Wilson Disease	Acute hepatic failure, Decreased circulating ceruloplasmin concentration, Osteoarthritis, Hypoalb...	OMIM:277900
15Q24 Microdeletion Syndrome	Joint laxity, Small for gestational age, Short stature, Congenital diaphragmatic hernia, Decrease...	ORPHA:94065
Chanarin-Dorfman Syndrome	Myopathy, Alopecia, Hepatic steatosis, Hepatomegaly	OMIM:275630
Acrodysostosis 2 With Or Without Hormone Resistance	Hyperactivity, Diabetes mellitus, Hypospadias, Cryptorchidism, Blue irides, Obesity, Congenital h...	OMIM:614613
Bresek Syndrome	Alopecia, Cryptorchidism, Hemivertebrae, Growth delay, Scoliosis, Intrauterine growth retardation...	ORPHA:85284
Mitochondrial Complex Iv Deficiency, Nuclear Type 13	Left ventricular noncompaction, Hypothermia	OMIM:616501
Osteomesopyknosis	Increased bone mineral density, Sclerotic vertebral body, Kyphosis, Abnormal form of the vertebra...	ORPHA:2777
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Decreased circulating cortisol level, Adrenal hyperplasia, Decreased circulating dehydroepiandros...	ORPHA:95699
Galactose Epimerase Deficiency	Hepatomegaly, Splenomegaly, Jaundice, Weight loss, Growth delay	ORPHA:79238
Neuroocular Syndrome	Hyperextensibility of the finger joints, Scapular winging, Brittle hair, Sacral dimple, Short sta...	OMIM:619539
Cockayne Syndrome B	Dry hair, Ivory epiphyses of the phalanges of the hand, Abnormality of skin pigmentation, Sparse ...	OMIM:133540
Diffuse Cutaneous Systemic Sclerosis	Arthritis, Flexion contracture, Xerostomia, Skin ulcer	ORPHA:220393
Immunodeficiency With Hyper-Igm, Type 1	Hemolytic anemia, Failure to thrive, Hepatomegaly, Absence of lymph node germinal center, Splenom...	OMIM:308230
Rothmund-Thomson Syndrome, Type 2	Absent eyebrow, Alopecia, Sparse scalp hair, Sparse eyelashes, Small for gestational age, Kyphosc...	OMIM:268400
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Increased sarcoplasm...	ORPHA:264580
Pseudohypoparathyroidism Type 1A	Calcinosis, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test...	ORPHA:79443
Autosomal Recessive Kenny-Caffey Syndrome	Postnatal growth retardation, Growth delay, Cortical thickening of long bone diaphyses, Congenita...	ORPHA:93324
Leigh Syndrome	Skeletal muscle atrophy, Multiple joint contractures, Choreoathetosis, Complex organic aciduria, ...	ORPHA:506
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3	Osteopenia, Hypercalcemia, Achilles tendon calcification, Hyperphosphatemia, Parathyroid hyperpla...	OMIM:617994
Tyrosinemia Type 2	Hyperkeratosis, Palmoplantar keratoderma, Abnormality of the nail, Hyperhidrosis	ORPHA:28378
Tetrasomy 12P	Short stature, Cachexia, Short neck, Sparse eyebrow, Hypohidrosis, Joint hyperflexibility, Sparse...	ORPHA:884
Cholestasis-Lymphedema Syndrome	Elevated hepatic transaminase, Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Jaundic...	OMIM:214900
Oculocerebrocutaneous Syndrome	Skin tags, Alopecia, Aplasia/Hypoplasia of the skin, Abnormal fingernail morphology, Congenital d...	ORPHA:1647
Neuroectodermal Melanolysosomal Disease	Hypopigmentation of hair, Generalized hyperpigmentation, Ataxia, Premature graying of hair, Hypop...	ORPHA:33445
Turner Syndrome Due To Structural X Chromosome Anomalies	Osteopenia, Bicuspid aortic valve, Short neck, Hypoplastic toenails, Delayed early-childhood soci...	ORPHA:99413
Mosaic Monosomy X	Osteopenia, Bicuspid aortic valve, Short neck, Hypoplastic toenails, Delayed early-childhood soci...	ORPHA:99228
Monosomy X	Osteopenia, Bicuspid aortic valve, Short neck, Hypoplastic toenails, Delayed early-childhood soci...	ORPHA:99226
Turner Syndrome	Osteopenia, Bicuspid aortic valve, Short neck, Hypoplastic toenails, Delayed early-childhood soci...	ORPHA:881
Hurler Syndrome	Short neck, Flexion contracture, Hernia, Endocardial fibroelastosis, Hepatomegaly, Short stature,...	OMIM:607014
Mucopolysaccharidosis Type 7	Inguinal hernia, Anterior beaking of lower thoracic vertebrae, Joint stiffness, Short neck, Splen...	ORPHA:584
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency	Decreased circulating cortisol level, Premature thelarche, Renal salt wasting, Premature adrenarc...	ORPHA:90795
Dopamine Beta-Hydroxylase Deficiency	Hypoglycemia, Hypothermia, Insulin resistance, Elevated urinary dopamine level, Elevated circulat...	ORPHA:230
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections	Eczema, Keratitis, Bronchiectasis, Recurrent otitis media, Joint contracture of the hand	OMIM:618523
Gaucher Disease	Osteopenia, Elevated circulating C-reactive protein concentration, Osteoarthritis, Abnormality of...	ORPHA:355
Isolated Congenital Hypoglossia/Aglossia	Aspiration pneumonia, Weight loss	ORPHA:141152
Sandhoff Disease	Splenomegaly, Kyphosis, Failure to thrive, Hepatomegaly	ORPHA:796
Smith-Kingsmore Syndrome	Curly hair, Rhizomelia, Diastasis recti, Large for gestational age, Cryptorchidism, Umbilical her...	OMIM:616638
Epidermolysis Bullosa, Junctional 2C, Laryngoonychocutaneous	Recurrent loss of toenails and fingernails, Skin ulcer, Nail dystrophy, Enamel hypoplasia, Amelog...	OMIM:245660
Malakoplakia	Inflammatory abnormality of the skin, Skin rash, Orchitis, Pruritus, Urinary bladder inflammation...	ORPHA:556
Cranioectodermal Dysplasia 1	Joint laxity, Hepatomegaly, Inguinal hernia, Bicuspid aortic valve, Thin nail, Sagittal craniosyn...	OMIM:218330
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Ketotic hypoglycemia...	ORPHA:79240
Split Cord Malformation	Back pain, Abnormal thoracic spine morphology, Low back pain, Kyphoscoliosis, Hyperlordosis, Tuft...	ORPHA:573278
Hyperparathyroidism 1	Primary hyperparathyroidism, Hypercalcemia	OMIM:145000
Angelman Syndrome Due To A Point Mutation	Hypopigmentation of hair, Broad-based gait, Ataxia, Iris hypopigmentation, Abnormal eating behavi...	ORPHA:411511
Mody	Large for gestational age, Transient neonatal diabetes mellitus, Renal cyst, Glucose intolerance,...	ORPHA:552
Low Phospholipid-Associated Cholelithiasis	Elevated hepatic transaminase, Diabetes mellitus, Hypercholesterolemia, Cholangitis, Liver absces...	ORPHA:69663
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies	Kyphosis, Short stature, Camptodactyly	OMIM:618453
Wiskott-Aldrich Syndrome	Sinusitis, Abnormal eosinophil morphology, Microcytic anemia, Inflammation of the large intestine...	ORPHA:906
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B	Kyphosis, Upper limb amyotrophy, Scoliosis, Lower limb amyotrophy, Foot dorsiflexor weakness	OMIM:617087
Bullous Diffuse Cutaneous Mastocytosis	Pruritus, Profuse pigmented skin lesions, Cutaneous mastocytosis, Erythroderma	ORPHA:280785
Vitamin D Hydroxylation-Deficient Rickets, Type 1B	Recurrent fractures, Delayed epiphyseal ossification, Rickets, Growth delay, Sparse bone trabecul...	OMIM:600081
Apparent Mineralocorticoid Excess	Renal insufficiency, Left ventricular hypertrophy, Abnormal urine sodium concentration, Nephrocal...	ORPHA:320
Mitochondrial Complex I Deficiency, Nuclear Type 15	Kyphosis, Flexion contracture, Myopathy, Intrauterine growth retardation, Hypertrophic cardiomyop...	OMIM:618237
Vitamin D Hydroxylation-Deficient Rickets, Type 1A	Recurrent fractures, Delayed epiphyseal ossification, Rickets, Growth delay, Sparse bone trabecul...	OMIM:264700
Stuve-Wiedemann Syndrome 2	Eczema, Camptodactyly	OMIM:619751
Monosomy 18P	Alopecia, Short stature, Kyphoscoliosis, Short neck, Low posterior hairline	ORPHA:1598
Arthrogryposis Multiplex Congenita 3, Myogenic Type	Small for gestational age, Kyphoscoliosis, Centrally nucleated skeletal muscle fibers, Kyphosis, ...	OMIM:618484
Citrullinemia, Type Ii, Neonatal-Onset	Decreased HDL cholesterol concentration, Conjugated hyperbilirubinemia, Microvesicular hepatic st...	OMIM:605814
Mogs-Cdg	Hepatomegaly, Alopecia, Fair hair, Thoracic scoliosis, Cardiomegaly, Thrombocytopenia, Hepatosple...	ORPHA:79330
Christianson Syndrome	Decreased muscle mass, Cachexia, Joint hyperflexibility, Inappropriate laughter, Arthrogryposis m...	ORPHA:85278
Sudden Infant Death-Dysgenesis Of The Testes Syndrome	Cryptorchidism, Hypoplasia of penis, Hypothermia	ORPHA:168593
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome	Hepatomegaly, Hyperammonemia, Hyperornithinemia, Decreased liver function, Acute hepatitis, Failu...	OMIM:238970
Piebald Trait-Neurologic Defects Syndrome	Macule, Abnormal eyebrow morphology, Hypopigmentation of hair, Abnormal eyelash morphology, Hypop...	ORPHA:2885
Grfoma	Neoplasm of the pancreas, Hepatomegaly, Hypercalcemia, Elevated circulating growth hormone concen...	ORPHA:97261
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Hyperextensibility of the finger joints, Decreased response to growth hormone stimulation test, S...	OMIM:619503
19P13.12 Microdeletion Syndrome	Ventricular septal defect, Craniosynostosis, Short neck, Kyphosis, Synophrys, Hyperlipidemia, Cry...	ORPHA:254346
Alström Syndrome	Decreased response to growth hormone stimulation test, Urinary incontinence, Elevated circulating...	ORPHA:64
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome	Hyponatremia, Alopecia, Psoriasiform dermatitis, Severe B lymphocytopenia, Alopecia totalis, Decr...	ORPHA:293978
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Mitral valve calcification, Pancytopenia, Cachexia, Aortic valve calcification, Abnormality of th...	ORPHA:2072
2Q37 Microdeletion Syndrome	Sparse scalp hair, Eczema, Supernumerary nipple, Highly arched eyebrow, Sparse eyebrow, Congenita...	ORPHA:1001
Adult-Onset Autosomal Dominant Leukodystrophy	Recurrent urinary tract infections, Ataxia, Hypothermia, Flexion contracture, Dysmetria, Gait ata...	ORPHA:99027
Immunoglobulin A Vasculitis	Macule, Episcleritis, Skin rash, Orchitis, Pustule, Erythema, Skin ulcer, Arthritis, Infectious e...	ORPHA:761
Hypocalcemic Vitamin D-Dependent Rickets	Short stature, Osteomalacia, Elevated alkaline phosphatase of bone origin, Postnatal growth retar...	ORPHA:289157
Chromosome Xq26.3 Duplication Syndrome	Elevated circulating growth hormone concentration, Pituitary adenoma, Increased circulating insul...	OMIM:300942
Pigmented Nodular Adrenocortical Disease, Primary, 1	Increased urinary cortisol level, Decreased circulating dehydroepiandrosterone concentration, Pig...	OMIM:610489
Gomez-Lopez-Hernandez Syndrome	Alopecia, Short stature, Decreased response to growth hormone stimulation test, Craniosynostosis	OMIM:601853
Zollinger-Ellison Syndrome	Hyperparathyroidism, Hypercalcemia, Pituitary null cell adenoma, Pituitary corticotropic cell ade...	ORPHA:913
Noonan Syndrome 9	Sparse eyebrow, Curly hair, Cryptorchidism	OMIM:616559
Noonan Syndrome 10	Curly hair, Mitral stenosis, Ventricular septal defect, Short stature, Short neck, Sparse eyebrow...	OMIM:616564
Parathyroid Carcinoma	Pancreatic adenocarcinoma, Hypercalcemia, Testicular neoplasm, Primary hyperparathyroidism, Osteo...	ORPHA:143
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder	Curly hair, Redundant neck skin, Ventricular septal defect, Joint hypermobility, Highly arched ey...	OMIM:617360
Hypothyroidism, Congenital, Nongoitrous, 2	Increased circulating thyroglobulin level, Hypothermia, Thyroid agenesis, Elevated circulating th...	OMIM:218700
Lateral Meningocele Syndrome	Vertebral fusion, Decreased muscle mass, Inguinal hernia, Ventricular septal defect, Bicuspid aor...	OMIM:130720
Congenital Heart Defect-Round Face-Developmental Delay Syndrome	Hypopigmentation of hair, Generalized hyperpigmentation, Hypospadias	ORPHA:1355
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii	Disproportionate short stature, Hypopigmented skin patches, Multiple cafe-au-lait spots, Fine hai...	ORPHA:2637
Helsmoortel-Van Der Aa Syndrome	Hyperactivity, Recurrent urinary tract infections, Decreased response to growth hormone stimulati...	OMIM:615873
Noonan Syndrome 4	Curly hair, Ventricular septal defect, Short stature, Short neck, Sparse eyebrow, Large for gesta...	OMIM:610733
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2	Short neck, Coarse hair, Sparse hair, Atrial septal defect, Patent foramen ovale, Preauricular pi...	OMIM:617506
Immunodeficiency, Common Variable, 10	Trachyonychia, Psoriasiform dermatitis, Alopecia totalis, Decreased response to growth hormone st...	OMIM:615577
Multiple Endocrine Neoplasia, Type I	Prolactinoma, Hypercalcemia, Pancreatic islet cell adenoma, Elevated circulating growth hormone c...	OMIM:131100
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly	Curly hair, Kyphoscoliosis, Sparse eyebrow, Synophrys, Hyposegmentation of neutrophil nuclei, Spa...	OMIM:620075
Arthrogryposis, Distal, Type 4	Osteopenia, Torticollis, Kyphosis, Low anterior hairline, Low posterior hairline, Camptodactyly o...	OMIM:609128
Microsporidiosis	Myositis, Sinusitis, Cholangitis, Lymphadenitis, Abnormality of the spleen, Abnormality of the pa...	ORPHA:2552
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria	Hyperparathyroidism, Failure to thrive, Hypercalcemia	OMIM:239199
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy	Back pain, Elevated circulating creatine kinase concentration, Decreased cervical spine flexion d...	ORPHA:98855
Catastrophic Antiphospholipid Syndrome	Abnormal heart valve morphology, Myocarditis, Skin ulcer, Arthritis, Coombs-positive hemolytic an...	ORPHA:464343
Intellectual Disability And Myopathy Syndrome	Atopic dermatitis, Cafe-au-lait spot, Spotty hypopigmentation, Achilles tendon contracture	OMIM:619719
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type	Kyphosis, Synophrys, Scoliosis, Hirsutism	OMIM:300861
Deafness-Genital Anomalies-Metacarpal And Metatarsal Synostosis Syndrome	Truncal obesity, Alopecia, Abnormal vertebral morphology, Supernumerary nipple	ORPHA:3224
Trichohepatoneurodevelopmental Syndrome	Synophrys, Coarse hair, Thoracic hypertrichosis, Joint laxity, Hepatomegaly, Elevated circulating...	OMIM:618268
Brittle Cornea Syndrome 1	Joint laxity, Mitral valve prolapse, Atypical scarring of skin, Molluscoid pseudotumors, Scoliosi...	OMIM:229200
Difference Of Sex Development-Intellectual Disability Syndrome	Abnormal hair pattern, Short neck, Kyphosis, Synophrys, Low posterior hairline, Reduced bone mine...	ORPHA:2983
Dyskeratosis Congenita, X-Linked	Ridged nail, Reticulated skin pigmentation, Pterygium of nails, Hyperhidrosis, Premature graying ...	OMIM:305000
Aicardi-Goutieres Syndrome 7	Atrophic gastritis, Generalized lymphadenopathy, Hepatic steatosis, Hemolytic anemia, Hepatomegal...	OMIM:615846
Spinocerebellar Ataxia-Dysmorphism Syndrome	Short stature, Reduced bone mineral density, Joint hyperflexibility, Coarse hair, Spina bifida oc...	ORPHA:1185
Immunodeficiency 27A	Increased inflammatory response, Pneumonia, Splenomegaly, Leukocytosis, Weight loss, Hepatospleno...	OMIM:209950
Leukocyte Adhesion Deficiency	Sinusitis, Severe periodontitis, Conjunctivitis, Otitis media, Vaginitis, Polycythemia, Short sta...	ORPHA:2968
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency	Acute hepatic failure, Pancytopenia, Failure to thrive in infancy, Cholangitis, Portal hypertensi...	ORPHA:228426
Alpha-1-Antitrypsin Deficiency	Hepatomegaly, Jaundice, Hepatic failure, Hepatitis	ORPHA:60
Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia	Joint laxity, Juvenile myelomonocytic leukemia, Failure to thrive, Bicuspid aortic valve, Short s...	OMIM:613563
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome	Small for gestational age, Hypoplasia of the thymus, Eczema, Failure to thrive in infancy	OMIM:617241
Oculopharyngodistal Myopathy	Distal lower limb amyotrophy, Proximal muscle weakness in upper limbs, Abnormality of orbicularis...	ORPHA:98897
Hypophosphatemic Rickets And Hyperparathyroidism	Hyperparathyroidism, Short stature, Hypercalcemia, Rickets, Parathyroid hyperplasia, Hypophosphat...	OMIM:612089
Craniopharyngioma	Enlarged pituitary gland, Hypogonadotropic hypogonadism, Neoplasm of the anterior pituitary, Pitu...	ORPHA:54595
Multiple Endocrine Neoplasia Type 1	Pituitary corticotropic cell adenoma, Pituitary gonadotropic cell adenoma, Reduced bone mineral d...	ORPHA:652
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type	Joint laxity, Curly hair, Short stature, Hyperlordosis, Mitral valve prolapse, Scoliosis, Atrial ...	OMIM:300986
Squamous Cell Carcinoma Of The Anal Canal	Neoplasm of the liver, Skin ulcer, Lymphadenopathy	ORPHA:424019
Neuropathy, Hereditary Sensory And Autonomic, Type Ia	Skeletal muscle atrophy, Osteomyelitis, Acral ulceration, Foot osteomyelitis	OMIM:162400
Pseudopseudohypoparathyroidism	Osteoma cutis, Short stature, Obesity, Hyperphosphatemia, Hypocalcemia, Ectopic ossification, Int...	ORPHA:79445
Encephalocraniocutaneous Lipomatosis	Alopecia, Linear hyperpigmentation, Ventricular septal defect, Cryptorchidism, Nevus psiloliparus...	OMIM:613001
Giant Axonal Neuropathy 1, Autosomal Recessive	Curly hair	OMIM:256850
Hypocalcemia, Autosomal Dominant 2	Postnatal growth retardation, Abnormal blood phosphate concentration, Hypocalcemia	OMIM:615361
Congenital Megacalycosis	Recurrent urinary tract infections, Nephrolithiasis, Renal cyst, Hematuria, Tubulointerstitial ne...	ORPHA:93109
Ruvalcaba Syndrome	Inguinal hernia, Kyphosis, Cryptorchidism, Hypopigmented skin patches, Scoliosis, Delayed puberty...	ORPHA:3121
Inflammatory Skin And Bowel Disease, Neonatal, 2	Pustule, Recurrent pneumonia, Long eyelashes, Failure to thrive, Papule	OMIM:616069
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	Osteopenia, T lymphocytopenia, Patent foramen ovale, Infectious encephalitis, Short stature, Auto...	ORPHA:391487
X-Linked Emery-Dreifuss Muscular Dystrophy	Back pain, Elevated circulating creatine kinase concentration, Short neck, Decreased cervical spi...	ORPHA:98863
Ppoma	Neoplasm of the pancreas, Hepatomegaly, Hypercalcemia, Elevated circulating growth hormone concen...	ORPHA:97278
Avian Influenza	Elevated hepatic transaminase, Pneumonia, Elevated circulating creatine kinase concentration, Ele...	ORPHA:454836
Pancreatic Lipase Deficiency	Hypocholesterolemia, Steatorrhea	OMIM:614338
Trisomy 20P	Inguinal hernia, Camptodactyly of finger, Highly arched eyebrow, Thick hair, Short neck, Kyphosis...	ORPHA:261318
Lymphatic Malformation 12	Hydrocele testis, Hyperkeratosis, Inguinal hernia	OMIM:620014
Somatostatinoma	Neoplasm of the pancreas, Hepatomegaly, Hypercalcemia, Elevated circulating growth hormone concen...	ORPHA:97283
Mandibulofacial Dysostosis With Alopecia	Preauricular pit, Alopecia, Sparse eyelashes, Bicuspid aortic valve, Preauricular skin tag	OMIM:616367
Hallermann-Streiff Syndrome	Alopecia, Sparse eyelashes, Recurrent fractures, Tracheomalacia, Abnormality of hair texture, Spa...	ORPHA:2108
Lmna-Related Cardiocutaneous Progeria Syndrome	Absent eyebrow, Hypertriglyceridemia, Lipoatrophy, Absent eyelashes, Pulmonary carcinoid tumor, P...	ORPHA:363618
Melioidosis	Foot osteomyelitis, Unusual skin infection, Liver abscess, Pneumonia, Abnormality of the spleen, ...	ORPHA:31202
Emery-Dreifuss Muscular Dystrophy	Back pain, Elevated circulating creatine kinase concentration, Decreased cervical spine flexion d...	ORPHA:261
Neurodevelopmental Disorder With Or Without Early-Onset Generalized Epilepsy	Eczema	OMIM:619157
Brachyolmia Type 4 With Mild Epiphyseal And Metaphyseal Changes	Acne, Hirsutism	OMIM:612847
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy	Back pain, Elevated circulating creatine kinase concentration, Decreased cervical spine flexion d...	ORPHA:98853
Subaortic Stenosis-Short Stature Syndrome	Inguinal hernia, Acne, Short stature, Short neck, Kyphosis, Biliary tract abnormality, Obesity, M...	ORPHA:3191
Chops Syndrome	Curly hair, Ventricular septal defect, Thick hair, Short stature, Splenomegaly, Synophrys, Crypto...	OMIM:616368
Autosomal Erythropoietic Protoporphyria	Pruritus, Cholelithiasis, Erythema, Eczema	ORPHA:79278
Hereditary Pheochromocytoma-Paraganglioma	Extraadrenal pheochromocytoma, Hypercalcemia, Episodic hyperhidrosis, Adrenal pheochromocytoma, W...	ORPHA:29072
Beckwith-Wiedemann Syndrome	Omphalocele, Hepatomegaly, Adrenocortical cytomegaly, Diastasis recti, Neonatal hypoglycemia, Car...	OMIM:130650
Glycogen Storage Disease Ixa1	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Splenomegaly, Hy...	OMIM:306000
Cockayne Syndrome A	Dry hair, Ivory epiphyses of the phalanges of the hand, Abnormality of skin pigmentation, Sparse ...	OMIM:216400
Kindler Epidermolysis Bullosa	Aplasia/Hypoplasia of the skin, Recurrent skin infections, Abnormal dental enamel morphology, Cam...	ORPHA:2908
Mosaic Variegated Aneuploidy Syndrome 7 With Inflammation And Tumor Predisposition	Pilomatrixoma, Multinodular goiter, Hyperkeratosis, Nevus, Lipoma	OMIM:620189
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies	Hyperextensibility of the finger joints, Kyphosis, Cryptorchidism, Frontal upsweep of hair, Scoli...	OMIM:619797
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2	Osteopenia, Joint laxity, Carpal synostosis, Short stature, Kyphoscoliosis, Advanced ossification...	OMIM:615349
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency	Elevated hepatic transaminase, Ketonuria, Ketotic hypoglycemia, Hyperlipidemia, Glycosuria, Postp...	ORPHA:2089
Congenital Muscular Dystrophy Due To Lmna Mutation	Skeletal muscle atrophy, Cachexia, Hyperlordosis, Spinal rigidity, Flexion contracture, Limitatio...	ORPHA:157973
Protoporphyria, Erythropoietic, 1	Pruritus, Cholelithiasis, Erythema, Eczema	OMIM:177000
Horizontal Gaze Palsy With Progressive Scoliosis	Kyphosis, Scoliosis, Short neck	ORPHA:2744
Neuropathy, Hereditary Sensory And Autonomic, Type Iia	Anhidrosis, Episodic hyperhidrosis, Paronychia, Osteolytic defects of the phalanges of the hand, ...	OMIM:201300
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome	Eczema, Cryptorchidism, Pseudohypoparathyroidism, Obesity, Preauricular skin tag	ORPHA:464288
Amoebiasis Due To Free-Living Amoebae	Myocardial necrosis, Unusual skin infection, Sinusitis, Stiff neck, Facial palsy, Pneumonia, Pust...	ORPHA:68
Complement Component 4B Deficiency	Recurrent otitis media, Recurrent sinusitis, Chronic active hepatitis, Recurrent pneumonia	OMIM:614379
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion	Hyperactivity, Hypopigmentation of hair, Ataxia, Broad-based gait, Iris hypopigmentation, Abnorma...	ORPHA:98794
Congenital Myopathy 22A, Classic	Hip contracture, Scapular winging, Thoracic scoliosis, Centrally nucleated skeletal muscle fibers...	OMIM:620351
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Osteomyelitis, Skin rash, Failure to thrive in infancy, Pustule, Hyperkeratosis, Stomatitis	OMIM:612852
Immunodeficiency 82 With Systemic Inflammation	Decreased proportion of naive T cells, Elevated circulating C-reactive protein concentration, Pos...	OMIM:619381
Abnormal Hair, Joint Laxity, And Developmental Delay	Alopecia, Joint hypermobility, Fragile nails, Small nail, Recurrent otitis media, Pili torti, Tri...	OMIM:261990
Osteopetrosis, Autosomal Recessive 5	Hepatomegaly, Increased bone mineral density, Extramedullary hematopoiesis, Pancytopenia, Facial ...	OMIM:259720
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism	Highly arched eyebrow, Kyphosis, Cryptorchidism, Low anterior hairline, Hirsutism, Woolly hair, D...	OMIM:619244
Kaposiform Lymphangiomatosis	Fever, Pancreatic cysts, Splenomegaly, Hepatosplenomegaly, Abnormal spleen morphology, Multiple r...	ORPHA:464329
Intellectual Developmental Disorder, Autosomal Dominant 23	Sacral dimple, Hyperlordosis, Kyphosis, Synophrys, Low anterior hairline, Scoliosis	OMIM:615761
Multiple Endocrine Neoplasia Type 4	Hyperparathyroidism, Pituitary growth hormone cell adenoma, Hypercalcemia, Pituitary null cell ad...	ORPHA:276152
Pearson Syndrome	Decreased response to growth hormone stimulation test, Abnormality of the liver, Hypocalcemia, Ne...	ORPHA:699
Caspase 8 Deficiency	Pneumonia, Failure to thrive, Eczema	OMIM:607271
Cranioectodermal Dysplasia 3	Joint laxity, Short stature, Short nail, Sagittal craniosynostosis, Rhizomelia, Broad nail, Fine ...	OMIM:614099
Granulomatosis With Polyangiitis	Increased inflammatory response, Pericarditis, Sinusitis, Skin rash, Elevated circulating C-react...	ORPHA:900
Wieacker-Wolff Syndrome	Short stature, Facial palsy, Short neck, Hyperlordosis, Kyphosis, Congenital foot contractures, D...	OMIM:314580
Hennekam Syndrome	Mild postnatal growth retardation, Camptodactyly of finger, Sparse axillary hair, Craniosynostosi...	ORPHA:2136
Marburg Hemorrhagic Fever	Elevated hepatic transaminase, Fever, Renal insufficiency, Hypoglycemia, Elevated circulating cre...	ORPHA:99826
Dermatitis Herpetiformis	Macule, Eczema, Pruritus, Erythema, Skin vesicle	ORPHA:1656
Colchicine Poisoning	Hyponatremia, Alopecia, Myocarditis, Leukocytosis, Abnormal blood ion concentration, Hypophosphat...	ORPHA:31824
Eosinophilic Fasciitis	Macule, Myositis, Fasciitis, Abnormal eosinophil morphology, Eosinophilia, Subcutaneous nodule, W...	ORPHA:3165
Pseudohypoparathyroidism, Type Ic	Short stature, Short neck, Osteoporosis, Obesity, Pseudohypoparathyroidism, Hyperphosphatemia, Hy...	OMIM:612462
Carnitine Palmitoyltransferase I Deficiency	Elevated hepatic transaminase, Hepatomegaly, Dicarboxylic aciduria, Elevated circulating aspartat...	OMIM:255120
Congenital Bile Acid Synthesis Defect Type 4	Elevated hepatic transaminase, Giant cell hepatitis, Abnormal circulating enzyme concentration or...	ORPHA:79095
Ige Responsiveness, Atopic	Eczema, Allergic rhinitis	OMIM:147050
Adult Polyglucosan Body Disease	Limitation of joint mobility, Skin ulcer	ORPHA:206583
Keratolytic Winter Erythema	Pustule, Erythema, Hyperhidrosis	ORPHA:50943
Tangier Disease	Hypertriglyceridemia, Hepatosplenomegaly, Facial diplegia, Nail dystrophy, Hypocholesterolemia, L...	ORPHA:31150
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome	Curly hair, Diastasis recti, Large for gestational age, Cryptorchidism, Hypopigmented skin patche...	ORPHA:457485
Sotos Syndrome	Flexion contracture, Atrial septal defect, Chronic otitis media, Abnormal vertebral morphology, H...	ORPHA:821
Orthostatic Hypotension 1	Intermittent hypothermia, Reduced circulating prolactin concentration, Neonatal hypoglycemia, Inc...	OMIM:223360
Neutral Lipid Storage Myopathy	Hand muscle weakness, Fatty replacement of skeletal muscle, Pineal cyst, Cholecystitis, Hepatic s...	ORPHA:98908
Fetal Hydantoin Syndrome	Cryptorchidism, Coarse hair, Hypoplastic fingernail, Low posterior hairline	ORPHA:1912
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria	Skeletal muscle atrophy, Short stature, Elevated circulating creatine kinase concentration, Cache...	ORPHA:1933
Hyperparathyroidism, Transient Neonatal	Hyperparathyroidism, Inguinal hernia, Unilateral renal agenesis, Ovarian cyst, Elevated circulati...	OMIM:618188
Erythroderma, Lethal Congenital	Congenital exfoliative erythroderma, Failure to thrive, Hypoalbuminemia	OMIM:227090
Cystinosis, Nephropathic	Skeletal muscle atrophy, Oral-pharyngeal dysphagia, Aminoaciduria, Renal Fanconi syndrome, Low-mo...	OMIM:219800
X-Linked Intellectual Disability, Cabezas Type	Inguinal hernia, Short stature, Camptodactyly of finger, Abnormal hair pattern, Short neck, Cache...	ORPHA:85293
Parathyroid Carcinoma	Hyperparathyroidism, Parathyroid carcinoma, Hypercalcemia	OMIM:608266
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate	Sparse eyelashes, Hyperconvex nail, Supernumerary nipple, Absent eyelashes, Patchy alopecia, Palm...	OMIM:106260
Cohen Syndrome	Abnormality of retinal pigmentation, Ventricular septal defect, Thick hair, Failure to thrive in ...	ORPHA:193
Wolcott-Rallison Syndrome	Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Hyponatremia, Neonatal insuli...	ORPHA:1667
Lipodystrophy, Familial Partial, Type 7	Lack of facial subcutaneous fat, Dysmetria, Gait ataxia, Glucose intolerance, Sparse hair, Lower ...	OMIM:606721
Isolated Succinate-Coq Reductase Deficiency	Noncompaction cardiomyopathy, Skeletal muscle atrophy, Severe short stature, Proportionate short ...	ORPHA:3208
Alpha-Mannosidosis	Craniofacial hyperostosis, Inguinal hernia, Hepatomegaly, Short neck, Kyphosis, Splenomegaly, Mac...	ORPHA:61
4Q21 Microdeletion Syndrome	Short neck, Kyphosis, Synophrys, Growth delay, Long eyelashes, Scoliosis, Intrauterine growth ret...	ORPHA:238750
Immunodeficiency By Defective Expression Of Mhc Class Ii	Pancytopenia, Sinusitis, Skin rash, Autoimmune hemolytic anemia, Abnormal CD4:CD8 ratio, Autoimmu...	ORPHA:572
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures	Lumbar hyperlordosis, Short stature, Kyphosis, Obesity, Scoliosis	OMIM:616756
Impaired Intellectual Development, Obesity, Mandibular Prognathism, And Eye And Skin Anomalies	Atopic dermatitis, Obesity	OMIM:606772
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome	Joint laxity, Glomerulonephritis, Synophrys, Fine hair, Growth delay	OMIM:619428
Fountain Syndrome	Craniofacial hyperostosis, Short stature, Kyphosis, Synophrys, Subcutaneous nodule, Erythema, Abn...	ORPHA:3219
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome	Supernumerary nipple, Cryptorchidism, Aplastic/hypoplastic toenail, Fine hair, Hypohidrosis, Hypo...	ORPHA:1812
Tuberculosis	Weight loss	ORPHA:3389
Simple Cryoglobulinemia	Viral hepatitis, Pericarditis, Membranoproliferative glomerulonephritis, Localized skin lesion, A...	ORPHA:91139
Albinism, Oculocutaneous, Type Ib	Hypopigmentation of hair, Hypopigmentation of the skin, Albinism	OMIM:606952
Rajab Interstitial Lung Disease With Brain Calcifications 1	Osteopenia, Reduced bone mineral density, Hypoalbuminemia, Hypocalcemia, Hepatic steatosis, Joint...	OMIM:613658
Hypocalciuric Hypercalcemia, Familial, Type Ii	Hypercalcemia, Primary hyperparathyroidism, Hypermagnesemia, Multiple lipomas, Pancreatitis, Chon...	OMIM:145981
Metatropic Dysplasia	Abnormal intervertebral disk morphology, Severe short stature, Camptodactyly of finger, Joint sti...	ORPHA:2635
Pseudohypoparathyroidism Type 1B	Calcinosis, Increased bone mineral density, Short stature, Decreased response to growth hormone s...	ORPHA:94089
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)	T lymphocytopenia, Hypocalcemia, Abnormal heart morphology	DECIPHER:16
Dubowitz Syndrome	Abnormality of neutrophils, Hypoplastic toenails, Low anterior hairline, Abnormality of skin pigm...	ORPHA:235
Hip Dysplasia, Beukes Type	Abnormal ossification involving the femoral head and neck, Osteoarthritis, Kyphosis, Abnormality ...	ORPHA:2114
Smith-Lemli-Opitz Syndrome	Renal cyst, Hypoalbuminemia, Hypocholesterolemia, Micropenis, Hepatic steatosis, Self-mutilation,...	OMIM:270400
Immunodeficiency 11B With Atopic Dermatitis	Pneumonia, Atopic dermatitis, Bronchiectasis, Ulcerative colitis, Colonic eosinophilia, Dissemina...	OMIM:617638
Bile Acid Synthesis Defect, Congenital, 4	Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Elevated circulating aspartate...	OMIM:214950
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Hepatomegaly, Reticulocytosis, Increased circulating ferritin concentration, Splenomegaly, Jaundi...	OMIM:194380
Familial Peripheral Male-Limited Precocious Puberty	Abnormal hair morphology, Macroorchidism, Acne	ORPHA:3000
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5	Skeletal muscle atrophy, Vertebral fusion, Facial palsy, Elbow contracture, Hyperlordosis, Elevat...	OMIM:606612
Kleefstra Syndrome 2	Growth delay, Kyphosis, Scoliosis, Thick eyebrow	OMIM:617768
Multiple Sulfatase Deficiency	Hepatomegaly, Abnormality of retinal pigmentation, Short stature, Joint stiffness, Splenomegaly, ...	ORPHA:585
Sanjad-Sakati Syndrome	Hypoparathyroidism, Short stature, Abnormal dental enamel morphology, Patchy osteosclerosis, Post...	ORPHA:2323
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome	Absent eyebrow, Alopecia, Sparse scalp hair, Sparse eyelashes, Sacral dimple, Inguinal hernia, La...	ORPHA:544488
Becker Nevus Syndrome	Lipoatrophy, Hypermelanotic macule, Supernumerary nipple, Kyphosis, Scoliosis, Spina bifida occul...	ORPHA:64755
Hyperparathyroidism-Jaw Tumor Syndrome	Pancreatic adenocarcinoma, Hypercalcemia, Testicular neoplasm, Primary hyperparathyroidism, Osteo...	ORPHA:99880
Bethlem Myopathy	Multiple joint contractures, Interphalangeal joint contracture of finger, Ankle flexion contractu...	ORPHA:610
Autoimmune Hypoparathyroidism	Increased bone mineral density, Autoimmune hypoparathyroidism, Chronic mucocutaneous candidiasis,...	ORPHA:36913
Intellectual Developmental Disorder, Autosomal Dominant 54	Anhidrosis, Small for gestational age, Eczema, Thin nail, Sparse hair, Dry skin	OMIM:617799
Fetal Akinesia Deformation Sequence 4	Skeletal muscle atrophy, Short neck, Kyphosis, Cryptorchidism, Camptodactyly, Arthrogryposis mult...	OMIM:618393
Acrocephalopolydactylous Dysplasia	Omphalocele, Hepatomegaly, Pancreatic fibrosis, Hepatic fibrosis, Polysplenia, Cystic renal dyspl...	OMIM:200995
Attenuated Chédiak-Higashi Syndrome	Generalized hypopigmentation, Ocular albinism, Skin ulcer	ORPHA:352723
Dyskeratosis Congenita, Digenic	Alopecia, Sparse eyelashes, Short stature, Abnormality of skin pigmentation, Nail dystrophy, Intr...	OMIM:620040
Borjeson-Forssman-Lehmann Syndrome	Short stature, Kyphosis, Cryptorchidism, Obesity, Scoliosis, Delayed puberty, Scheuermann-like ve...	OMIM:301900
Glucose-Galactose Malabsorption	Failure to thrive, Hypernatremia, Hypercalcemia, Weight loss	ORPHA:35710
Hermansky-Pudlak Syndrome	Hypopigmentation of hair, Abnormal dental enamel morphology, Thickened skin, Weight loss, Melanoc...	ORPHA:79430
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly	Short stature, Short neck, Postnatal growth retardation, Hyposegmentation of neutrophil nuclei, C...	OMIM:614800
Cutaneous Small Vessel Vasculitis	Skin rash, Recurrent skin infections, Erythema, Subcutaneous nodule, Papule, Purpura	ORPHA:889
Severe Generalized Junctional Epidermolysis Bullosa	Alopecia, Failure to thrive, Recurrent skin infections, Pneumonia, Skin erosion, Paronychia, Dila...	ORPHA:79404
Hall-Riggs Syndrome	Kyphosis, Osteoporosis, Irregular vertebral endplates, Platyspondyly, Scoliosis, Intrauterine gro...	OMIM:234250
Pelger-Huet Anomaly	Recurrent otitis media, Umbilical hernia, Failure to thrive, Eczema	OMIM:169400
Alveolar Echinococcosis	Low back pain, Liver abscess, Abnormal pericardium morphology, Cholangitis, Portal hypertension, ...	ORPHA:284
Granulomatosis With Polyangiitis	Episcleritis, Sinusitis, Keratitis, Uveitis, Skin ulcer, Weight loss, Conjunctivitis, Chronic oti...	OMIM:608710
Mucopolysaccharidosis Type 3	Cardiomegaly, Adenoiditis, Synophrys, Flexion contracture, Abnormal form of the vertebral bodies,...	ORPHA:581
Neuropathy, Hereditary Sensory And Autonomic, Type V	Anhidrosis, Osteomyelitis, Osteoarthritis, Acral ulceration, Septic arthritis	OMIM:608654
Mycetoma	Recurrent bacterial skin infections, Osteomyelitis, Subcutaneous nodule, Cobblestone-like hyperke...	ORPHA:2583
Gangliocytoma	Pituitary null cell adenoma, Elevated circulating growth hormone concentration, Abnormal pituitar...	ORPHA:251937
Sialidosis Type 1	Hyperkeratosis, Hernia	ORPHA:812
Hereditary Sensory And Autonomic Neuropathy Type 4	Nail-biting, Hyperactivity, Fasciitis, Unexplained fevers, Impulsivity, Hypothermia, Chronic kidn...	ORPHA:642
Laryngeal Neuroendocrine Tumor	Elevated carcinoembryonic antigen level, Adrenocorticotropic hormone excess, Chronic noninfectiou...	ORPHA:100083
Frontonasal Dysplasia 2	Sparse eyelashes, Alopecia totalis, Craniosynostosis, Sparse eyebrow, Bilateral cryptorchidism, F...	OMIM:613451
3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form	Inguinal hernia, Hypoglycinemia, Short stature, Abnormality of hair texture, Megaloblastic anemia...	ORPHA:79351
Gaucher Disease Type 1	Osteopenia, Hepatomegaly, Increased bone mineral density, Pancytopenia, Pericardial effusion, Kyp...	ORPHA:77259
Renal Dysplasia	Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure...	ORPHA:93108
Ck Syndrome	Hyperlordosis, Kyphosis, Scoliosis, Abnormal cortical bone morphology, Slender build, Joint hyper...	OMIM:300831
Parenteral Nutrition-Associated Cholestasis	Elevated hepatic transaminase, Hepatomegaly, Small for gestational age, Portal hypertension, Bili...	ORPHA:567983
Bile Acid Synthesis Defect, Congenital, 2	Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Intrahepatic cholestasis, Jaundic...	OMIM:235555
Bone Marrow Failure Syndrome 4	Dry skin, Eczema	OMIM:618116
Zygomycosis	Fasciitis, Sinusitis, Acute infectious pneumonia, Colitis, Neutropenia, Nephritis, Infectious enc...	ORPHA:73263
Senior-Boichis Syndrome	Thickening of the tubular basement membrane, Hepatic fibrosis, Portal hypertension, Malformation ...	ORPHA:84081
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10	Woolly hair	OMIM:610193
13Q12.3 Microdeletion Syndrome	Congenital diaphragmatic hernia, Cryptorchidism, Atopic dermatitis, Obesity, Camptodactyly, Chron...	ORPHA:412035
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Decreased HDL cholesterol concentration, Hypoalbuminemia, Elevated gamma-glutamyltransferase leve...	ORPHA:247598
Multicentric Reticulohistiocytosis	Arthritis, Skin nodule, Cachexia, Histiocytosis	ORPHA:139436
Cholestasis, Progressive Familial Intrahepatic, 8	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Portal hypertension,...	OMIM:619662
Encephalocraniocutaneous Lipomatosis	Craniofacial hyperostosis, Alopecia, Lipodystrophy, Abnormal eyelash morphology, Bone cyst, Subcu...	ORPHA:2396
Bartter Syndrome, Type 1, Antenatal	Osteopenia, Hyperchloriduria, Hyperparathyroidism, Increased serum prostaglandin E2, Hypercalcemi...	OMIM:601678
Alpha-N-Acetylgalactosaminidase Deficiency Type 1	Hyperkeratosis	ORPHA:79279
Wiskott-Aldrich Syndrome 2	Eczema	OMIM:614493
Proteasome-Associated Autoinflammatory Syndrome 1	Skeletal muscle atrophy, Decreased HDL cholesterol concentration, Elevated circulating C-reactive...	OMIM:256040
Heterotaxy, Visceral, 1, X-Linked	Omphalocele, Hepatomegaly, Cyanosis, Renal agenesis, Cardiomegaly, Asplenia, Hypoplastic toenails...	OMIM:306955
T-Cell Immunodeficiency With Thymic Aplasia	Failure to thrive, Sinusitis, Decreased proportion of naive T cells, Pneumonia, Hypocalcemic teta...	ORPHA:83471
Glutathionuria	Eczema	OMIM:231950
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome	Abnormality of retinal pigmentation, Short stature, Hyperlordosis, Kyphosis, Cryptorchidism, Obes...	ORPHA:3085
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Omphalocele, Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic ane...	OMIM:243150
Intellectual Developmental Disorder, X-Linked, Syndromic 33	Osteopenia, Sacral dimple, Eczema, Joint hypermobility, Short neck, Postnatal growth retardation,...	OMIM:300966
Noonan Syndrome 12	Atopic dermatitis, Decreased response to growth hormone stimulation test	OMIM:618624
Heart Defects-Limb Shortening Syndrome	Atrial septal defect, Ventricular septal defect, Mesomelic/rhizomelic limb shortening, Kyphosis, ...	ORPHA:1354
Pfapa Syndrome	Hepatomegaly, Splenomegaly, Weight loss, Lymphadenopathy, Arthritis, Infectious encephalitis	ORPHA:42642
Rhizomelic Chondrodysplasia Punctata, Type 2	Failure to thrive, Decreased circulating plasmalogen concentration, Flexion contracture, Inguinal...	OMIM:222765
Generalized Pseudohypoaldosteronism Type 1	Hyponatremia, Osteomyelitis, Failure to thrive in infancy, Proportionate short stature, Pustule, ...	ORPHA:171876
Mitochondrial Trifunctional Protein Deficiency	Hypoparathyroidism, Failure to thrive in infancy, Rhabdomyolysis, Cholestasis, Cardiomyopathy, Sk...	ORPHA:746
Satoyoshi Syndrome	Short stature, Hyperlordosis, Abnormal hair morphology, Sparse or absent eyelashes, Hypoplasia of...	ORPHA:3130
Limb-Mammary Syndrome	Alopecia, Absent nipple, Psoriasiform dermatitis, Chronic irritative conjunctivitis, Sparse eyebr...	ORPHA:69085
Kaufman Oculocerebrofacial Syndrome	Sparse hair, Failure to thrive, Sparse eyebrow, Hypocholesterolemia	OMIM:244450
Genetic Recurrent Myoglobinuria	Myositis, Recurrent myoglobinuria, Exercise-induced myoglobinuria, Hypocalcemia, Abnormality of j...	ORPHA:99845
Noonan Syndrome	Abnormal hair quantity, Hepatomegaly, Short stature, Abnormal pulmonary valve morphology, Abnorma...	ORPHA:648
Metatropic Dysplasia	Relatively short spine, Severe short stature, Kyphoscoliosis, Abnormal enchondral ossification, H...	OMIM:156530
Waardenburg Syndrome Type 1	Hypopigmentation of hair, White eyelashes, White eyebrow, Abnormal hair morphology, Synophrys, Wh...	ORPHA:894
Autoimmune Lymphoproliferative Syndrome	Uveitis, Colitis, Lymphocytosis, Increased B cell count, Elevated proportion of CD4-negative, CD8...	ORPHA:3261
Congenital Arthrogryposis With Anterior Horn Cell Disease	Skeletal muscle atrophy, Short neck, Kyphosis, Cryptorchidism, Facial diplegia, Scoliosis, Arthro...	OMIM:611890
Follicular Lymphoma	Abnormal peritoneum morphology, Splenomegaly, Skin nodule, Mediastinal lymphadenopathy, Weight lo...	ORPHA:545
Kenny-Caffey Syndrome, Type 1	Proportionate short stature, Birth length less than 3rd percentile, Hypocalcemia, Hypomagnesemia,...	OMIM:244460
Craniometadiaphyseal Dysplasia, Wormian Bone Type	Osteopenia, Curly hair, Increased bone mineral density, Vertebral arch anomaly, Thin bony cortex	ORPHA:85184
Sudden Infant Death With Dysgenesis Of The Testes Syndrome	Hypothermia, Dysplastic testes, Cryptorchidism, Testicular dysgenesis, Partial development of the...	OMIM:608800
Phakomatosis Pigmentokeratotica	Rhabdomyosarcoma, Cryptorchidism, Melanocytic nevus, Linear nevus sebaceous, Hyperhidrosis, Patch...	ORPHA:2874
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum	Short neck, Synophrys, Obesity, Fine hair, Thoracic kyphosis, Long eyelashes, Scoliosis	OMIM:620250
Johanson-Blizzard Syndrome	Conjugated hyperbilirubinemia, Hepatic fibrosis, Hypocalcemia, Elevated gamma-glutamyltransferase...	OMIM:243800
Isolated Biliary Atresia	Conjugated hyperbilirubinemia, Elevated gamma-glutamyltransferase level, Hypothyroidism, Hepatome...	ORPHA:30391
Mednik Syndrome	Hyperkeratosis, Ichthyosis	ORPHA:171851
Primary Intestinal Lymphangiectasia	Peritoneal effusion, Pericardial effusion, Weight loss, Abnormal lymphatic vessel morphology, Red...	ORPHA:90362
Rat-Bite Fever	Back pain, Pericarditis, Maculopapular exanthema, Skin rash, Erythema nodosum, Myocarditis, Lymph...	ORPHA:31205
Deafness-Lymphedema-Leukemia Syndrome	Hepatomegaly, Abnormal neutrophil count, Splenomegaly, Leukocytosis, Weight loss, Acute leukemia,...	ORPHA:3226
Alacrima, Achalasia, And Impaired Intellectual Development Syndrome	Hyperkeratosis, High anterior hairline, Adrenal insufficiency, Hypohidrosis	OMIM:615510
Ramon Syndrome	Hyperkeratosis, Decreased body weight, Juvenile rheumatoid arthritis, Hypertrichosis	OMIM:266270
Familial Hypocalciuric Hypercalcemia	Renal hypophosphatemia, Osteomalacia, Hypercalcemia, Hypermagnesemia, Hypocalcemic seizures, Lipo...	ORPHA:405
Glycogen Storage Disease Ixc	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Splenomegaly, Bi...	OMIM:613027
Benign Recurrent Intrahepatic Cholestasis	Elevated hepatic transaminase, Pruritus, Jaundice, Weight loss, Cholestatic liver disease, Acholi...	ORPHA:65682
Plague	Chapped lip, Hepatomegaly, Skin rash, Erythema nodosum, Lymphadenitis, Localized skin lesion, Spl...	ORPHA:707
Chediak-Higashi Syndrome	Leukopenia, Periodontitis, Giant neutrophil granules, Neutropenia, Hypopigmentation of the skin, ...	OMIM:214500
Mitochondrial Neurogastrointestinal Encephalomyopathy	Elevated hepatic transaminase, Decreased muscle mass, Cachexia, Ragged-red muscle fibers, Weight ...	ORPHA:298
Woodhouse-Sakati Syndrome	Alopecia, Decreased serum insulin-like growth factor 1, Hypogonadotropic hypogonadism, Hypergonad...	OMIM:241080
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type	Distal lower limb amyotrophy, Restlessness, Hyperactivity, Facial hypotonia, Aggressive behavior,...	OMIM:300534
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2	Osteopenia, Hip contracture, Facial hypotonia, Failure to thrive in infancy, Cachexia, Short neck...	OMIM:616801
Severe Intellectual Disability-Poor Language-Strabismus-Grimacing Face-Long Fingers Syndrome	Joint laxity, Intrauterine growth retardation, Inappropriate laughter, Fine hair	ORPHA:363686
Dubowitz Syndrome	Sparse scalp hair, Hyperactivity, Inguinal hernia, Hypospadias, Cryptorchidism, Hypocholesterolem...	OMIM:223370
Acute Myelomonocytic Leukemia	Eosinophilia, Thrombocytopenia, Leukocytosis, Weight loss, Pallor, Anemia	ORPHA:517
Autosomal Dominant Hypophosphatemic Rickets	Osteomalacia, Rickets, Growth delay, Iron deficiency anemia, Elevated circulating alkaline phosph...	ORPHA:89937
Distal Deletion 19P	Alopecia, Vaginal hernia, Ventricular septal defect, Joint hyperflexibility, Umbilical hernia, Tr...	ORPHA:96129
Frank-Ter Haar Syndrome	Inguinal hernia, Acne, Camptodactyly of finger, Joint stiffness, Kyphosis, Osteolysis, Mitral val...	ORPHA:137834
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome	Decreased testicular size, Kyphosis, Joint hyperflexibility, Congenital muscular dystrophy, Abnor...	ORPHA:1875
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1	Sparse scalp hair, Inguinal hernia, Absence of Stensen duct, Decreased response to growth hormone...	OMIM:129900
Majeed Syndrome	Inflammatory abnormality of the skin, Osteomyelitis, Skin rash, Anemia of inadequate production, ...	OMIM:609628
Steinert Myotonic Dystrophy	Skeletal muscle atrophy, Decreased response to growth hormone stimulation test, Oral-pharyngeal d...	ORPHA:273
Autosomal Recessive Robinow Syndrome	Short neck, Vertebral segmentation defect, Abnormal tricuspid valve morphology, Atrial septal def...	ORPHA:1507
Hallermann-Streiff Syndrome	Sparse scalp hair, Sparse eyelashes, Small for gestational age, Tracheomalacia, Hyperlordosis, Sp...	OMIM:234100
Cerebrofaciothoracic Dysplasia	Short stature, Abnormal hair pattern, Short neck, Synophrys, Hemivertebrae, Low posterior hairlin...	ORPHA:1394
Brucellosis	Liver abscess, Elevated circulating C-reactive protein concentration, Knee osteoarthritis, Hyperh...	ORPHA:1304
Proteasome-Associated Autoinflammatory Syndrome 3	Elevated hepatic transaminase, Hepatomegaly, Myositis, Hypertriglyceridemia, Lipodystrophy, Splen...	OMIM:617591
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers	Kyphosis, Short stature, Obesity, Scoliosis	ORPHA:276630
Say-Barber-Miller Syndrome	Abnormality of the hairline, Highly arched eyebrow, Eczema, Sparse eyebrow, Cryptorchidism, Eryth...	ORPHA:3132
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections	Eczema, Eosinophilic infiltration of the esophagus, Recurrent pneumonia, Bronchiectasis, Atopic d...	OMIM:243700
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Elevated hepatic transaminase, Skeletal muscle atrophy, Hepatomegaly, Elevated circulating creati...	ORPHA:42
Insulin Autoimmune Syndrome	Arthralgia/arthritis, Weight loss	ORPHA:411593
Müllerian Aplasia And Hyperandrogenism	Thick eyebrow, Acne, Frontal balding, Synophrys, Obesity, Facial hirsutism, High anterior hairlin...	ORPHA:247768
Ring Chromosome 10 Syndrome	Intrauterine growth retardation, Hypocalcemia, Cachexia, Short neck	ORPHA:1438
Charcot-Marie-Tooth Disease Type 4B2	Proximal muscle weakness in upper limbs, Kyphoscoliosis, Hand muscle weakness, Penetrating foot u...	ORPHA:99956
Primary Myelofibrosis	Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Thrombocytosis, Increased circulating l...	ORPHA:824
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome	Atopic dermatitis, Obesity	ORPHA:397973
Gaucher Disease, Perinatal Lethal	Hyperkeratosis, Congenital nonbullous ichthyosiform erythroderma, Ichthyosis, Arthrogryposis mult...	OMIM:608013
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome	Hepatomegaly, Palmoplantar keratoderma, Weight loss	ORPHA:2198
Woodhouse-Sakati Syndrome	Alopecia, Streak ovary, Decreased response to growth hormone stimulation test, Insulin-resistant ...	ORPHA:3464
Schwartz-Jampel Syndrome	Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Short neck, Low ante...	ORPHA:800
Eosinophilic Granulomatosis With Polyangiitis	Increased inflammatory response, Myositis, Sinusitis, Skin rash, Abnormal pericardium morphology,...	ORPHA:183
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Decreased response to growth hormone stimulation test, Patchy osteosclerosis, Postnatal growth re...	OMIM:241410
Cerebral Arteriopathy, Autosomal Recessive, With Subcortical Infarcts And Leukoencephalopathy	Low back pain, Alopecia	OMIM:600142
Morgagni-Stewart-Morel Syndrome	Acne, Osteoarthritis, Obesity, Hypothyroidism, Hirsutism	ORPHA:77296
Undifferentiated Pleomorphic Sarcoma	Abnormal peritoneum morphology, Weight loss	ORPHA:2023
Holocarboxylase Synthetase Deficiency	Thrombocytopenia, Alopecia, Skin rash, Hyperammonemia	OMIM:253270
Myopathy, Centronuclear, 2	Scapular winging, Facial palsy, Centrally nucleated skeletal muscle fibers, Hyperlordosis, Kyphos...	OMIM:255200
Albinism, Oculocutaneous, Type Iv	Hypopigmentation of hair, Blue irides, Albinism	OMIM:606574
Systemic Mastocytosis With Associated Hematologic Neoplasm	Normocytic anemia, Pallor, Myeloid leukemia, Hepatomegaly, Neutrophilia, Leukocytosis, Osteoporos...	ORPHA:98849
Gorlin-Chaudhry-Moss Syndrome	Coarse hair, Low anterior hairline, Generalized hirsutism	ORPHA:2095
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy	Arthrogryposis multiplex congenita, Atopic dermatitis, Camptodactyly	OMIM:614262
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related	Repetitive compulsive behavior, Hypersexuality, Agitation, Disinhibition, Polyphagia	OMIM:607485
Postinfectious Vasculitis	Abnormal circulating protein concentration, Viral hepatitis, Inflammatory abnormality of the skin...	ORPHA:48435
Mulibrey Nanism	Hepatomegaly, Short stature, Cachexia, Intrauterine growth retardation	ORPHA:2576
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency	Atrophic gastritis, Psoriasiform dermatitis, Eczema, Pneumonia, Bronchiectasis, Atopic dermatitis...	ORPHA:436159
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency	Chronic gastritis, Viral hepatitis, Psoriasiform dermatitis, Skin rash, Cholangitis, Pneumonia, A...	ORPHA:183675
Diamond-Blackfan Anemia 21	Short stature, Secundum atrial septal defect, Erythroid hypoplasia, Synophrys, Widow's peak, Thro...	OMIM:620072
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4	Preauricular pit, Camptodactyly of finger, Supernumerary nipple, Highly arched eyebrow, Secundum ...	OMIM:619951
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Inguinal hernia, Abnormality of the pancreas, White hair, Fine hair, Reduced bone mineral density...	ORPHA:935
Lysinuric Protein Intolerance	Decreased HDL cholesterol concentration, Decreased response to growth hormone stimulation test, T...	ORPHA:470
2P15P16.1 Microdeletion Syndrome	Inguinal hernia, Camptodactyly of finger, Facial palsy, Supernumerary nipple, Sparse eyebrow, Kyp...	ORPHA:261349
Immunodeficiency 31C	Osteopenia, Skeletal muscle atrophy, Hepatomegaly, Osteomyelitis, Lymphopenia, Eczema, Impaired l...	OMIM:614162
Mucopolysaccharidosis, Type Iva	Joint laxity, Hepatomegaly, Inguinal hernia, Abnormal heart valve morphology, Ovoid vertebral bod...	OMIM:253000
O'Donnell-Luria-Rodan Syndrome	Cryptorchidism, Kyphosis, Prolonged neonatal jaundice	OMIM:618512
Opitz-Kaveggia Syndrome	Skin tags, Sacral dimple, Multiple joint contractures, Inguinal hernia, Lumbar hyperlordosis, Fac...	OMIM:305450
Hypocalciuric Hypercalcemia, Familial, Type I	Hyperparathyroidism, Hypercalcemia, Hypermagnesemia, Parathyroid adenoma, Pancreatitis	OMIM:145980
Leukocyte Adhesion Deficiency, Type I	Osteomyelitis, Elevated circulating C-reactive protein concentration, Leukocytosis, Skin ulcer, C...	OMIM:116920
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)	Ragged-red muscle fibers, Slender build, Cachexia, Weight loss	OMIM:613662
Acrofacial Dysostosis, Catania Type	Preauricular pit, Inguinal hernia, Short stature, Abnormal hair pattern, Cryptorchidism, Coarse h...	ORPHA:1786
Singleton-Merten Syndrome 2	Hyperkeratosis, Psoriasiform lesion	OMIM:616298
Aromatic L-Amino Acid Decarboxylase Deficiency	Torticollis, Intermittent hypothermia, Tongue thrusting, Choreoathetosis, Athetosis, Temperature ...	OMIM:608643
Spondylocostal Dysostosis 3, Autosomal Recessive	Contracture of the proximal interphalangeal joint of the 2nd finger, Short stature, Kyphosis, Hyp...	OMIM:609813
Autoinflammatory-Pancytopenia Syndrome	Membranoproliferative glomerulonephritis, Lipodystrophy, Intestinal inflammation, Chilblains, Fai...	OMIM:619858
Bare Lymphocyte Syndrome, Type Ii	Viral hepatitis, Cholangitis, Biliary tract abnormality, Chronic mucocutaneous candidiasis, Colit...	OMIM:209920
Ritscher-Schinzel Syndrome 4	Curly hair, Short stature, Cryptorchidism, Scoliosis, Limited knee extension, Joint hypermobility	OMIM:619435
Bloom Syndrome	Adipose tissue loss, Paronychia, Uveitis, Otitis media, Hypopigmentation of the skin, Decreased p...	ORPHA:125
Craniofrontonasal Syndrome	Ridged nail, Split nail, Curly hair, Joint laxity, Short stature, Congenital diaphragmatic hernia...	OMIM:304110
Proteasome-Associated Autoinflammatory Syndrome 2	Skin rash, Neutrophilic infiltration of the skin, Lipodystrophy, Subcutaneous nodule, Annular cut...	OMIM:618048
Caroli Disease	Liver abscess, Cholangitis, Conjugated hyperbilirubinemia, Hepatic fibrosis, Elevated gamma-gluta...	ORPHA:53035
Immunodeficiency 25	Autoimmune hemolytic anemia, Eosinophilia, Recurrent pneumonia, T lymphocytopenia, Erythroderma	OMIM:610163
Gracile Bone Dysplasia	Short stature, Asplenia, Decreased skull ossification, Hypocalcemia, Hypoplastic spleen, Failure ...	OMIM:602361
Mgat2-Cdg	Osteopenia, Impaired lymphocyte transformation with phytohemagglutinin, Ventricular septal defect...	ORPHA:79329
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita	Short neck, Kyphosis, Cryptorchidism, Flexion contracture, Scoliosis, Arthrogryposis multiplex co...	ORPHA:178148
Chromosome 22Q13 Duplication Syndrome	Attention deficit hyperactivity disorder, Polyphagia, Impulsivity	OMIM:615538
Bloom Syndrome	Hepatic steatosis, Small for gestational age, Elevated hemoglobin A1c, Postnatal growth retardati...	OMIM:210900
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Alopecia, Short stature, Leukocytosis, Flexion contracture, Abdominal obesity, Hypoplasia of the ...	OMIM:619321
Pycnodysostosis	Ridged nail, Decreased response to growth hormone stimulation test, Generalized osteosclerosis, A...	ORPHA:763
Linear Nevus Sebaceus Syndrome	Alopecia, Melanocytic nevus, Growth delay, Vertebral segmentation defect, Adenoma sebaceum, Irreg...	ORPHA:2612
Osteootohepatoenteric Syndrome	Recurrent fractures, Pruritus, Microvesicular hepatic steatosis, Cholestasis, Reduced bone minera...	OMIM:619377
Secondary Intestinal Lymphangiectasia	Fever, Reduced circulating transferrin concentration, Hypoalbuminemia, Cirrhosis, Hypocholesterol...	ORPHA:90363
Hutchinson-Gilford Progeria Syndrome	Osteoarthritis, Reduced bone mineral density, Dystrophic fingernails, Papule, Limitation of movem...	ORPHA:740
Parkes Weber Syndrome	Back pain, Skin ulcer, Abnormal lymphatic vessel morphology, Erythematous plaque, Scaling skin, C...	ORPHA:90307
Ablepharon Macrostomia Syndrome	Omphalocele, Absent eyebrow, Camptodactyly of finger, Abnormal hair pattern, Redundant skin, Abse...	ORPHA:920
Orofaciodigital Syndrome Type 3	Abnormality of hair texture	ORPHA:2752
Dilution, Pigmentary	Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation	OMIM:126070
Occipital Horn Syndrome	Joint laxity, Decreased circulating ceruloplasmin concentration, Decreased circulating copper con...	OMIM:304150
Myasthenia Gravis	Hemolytic anemia, Myositis, Pure red cell aplasia, Hepatitis, Abnormal thymus morphology, Rheumat...	ORPHA:589
Autosomal Recessive Spastic Paraplegia Type 53	Joint hyperflexibility, Failure to thrive, Kyphosis, Upper limb hypertonia	ORPHA:319199
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant	Eczema, Thyroiditis	OMIM:618985
Propionic Acidemia	Pancreatitis, Failure to thrive, Eczema	OMIM:606054
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, Genital Anomalies, And Immunodeficiency	Eczema, Decreased response to growth hormone stimulation test, Bilateral cryptorchidism, Decrease...	OMIM:618336
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome	Congenital muscular torticollis, Vertebral fusion, Vaginal hernia, Short stature, Abnormal dental...	ORPHA:2916
Bruck Syndrome 1	Joint laxity, Hip contracture, Short stature, Ankle flexion contracture, Kyphosis, Osteoporosis, ...	OMIM:259450
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome	Abnormality of hair texture, Thickened skin, Synophrys, Hypoplastic sweat glands, Epidermal thick...	ORPHA:73223
Cerebellar-Facial-Dental Syndrome	Inguinal hernia, Severe short stature, Ventricular septal defect, Foot joint contracture, Infancy...	ORPHA:444072
Immunodeficiency 56	Cholangitis, Hepatic failure, Recurrent pneumonia, Bronchiectasis, Recurrent sinusitis, Chronic h...	OMIM:615207
Neuropathy, Hereditary Sensory, With Spastic Paraplegia, Autosomal Recessive	Foot osteomyelitis, Decreased circulating apolipoprotein B concentration, Distal amyotrophy, Acra...	OMIM:256840
Bartsocas-Papas Syndrome	Alopecia totalis, Hypoplastic toenails, Sparse or absent eyelashes, Synostosis of joints, Aplasia...	ORPHA:1234
Hermansky-Pudlak Syndrome 1	Hypopigmentation of hair, Freckles in sun-exposed areas, Albinism, Ocular albinism, Melanocytic n...	OMIM:203300
Wiedemann-Rautenstrauch Syndrome	Short neck, Secundum atrial septal defect, Flexion contracture, Hypoplasia of the thymus, General...	OMIM:264090
Chédiak-Higashi Syndrome	Large clumps of pigment irregularly distributed along hair shaft, Vacuolated lymphocytes, Periodo...	ORPHA:167
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome	Microvesicular hepatic steatosis, Hypotriglyceridemia, Hepatomegaly, Micronodular cirrhosis, Corn...	ORPHA:404454
Elejalde Neuroectodermal Melanolysosomal Syndrome	Accumulation of melanosomes in melanocytes, Ataxia, Silver-gray hair, Melanin pigment aggregation...	OMIM:256710
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Broad-based gait, Decreased serum iron, Hypothermia, Abnormality of the endocrine system, Cryptor...	ORPHA:438213
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young	Elevated hepatic transaminase, Hepatomegaly, Hyperphosphaturia, Diabetes mellitus, Hypouricemia, ...	OMIM:616026
Pheochromocytoma	Cafe-au-lait spot, Pheochromocytoma, Hypercalcemia, Hyperhidrosis	OMIM:171300
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome	Absent eyebrow, Thin fingernail, Porokeratosis, Eczema, Abnormal dental enamel morphology, Absent...	ORPHA:85199
Biotinidase Deficiency	Alopecia, Skin rash, Hyperammonemia, Conjunctivitis, Limb muscle weakness, Eczematoid dermatitis,...	ORPHA:79241
Galloway-Mowat Syndrome 9	Coarse hair	OMIM:619603
Revesz Syndrome	Nail pits, Fine hair, Nail dystrophy, Sparse hair, Ridged fingernail	OMIM:268130
Emanuel Syndrome	Preauricular pit, Torticollis, Sacral dimple, Truncus arteriosus, Ventricular septal defect, Cong...	OMIM:609029
Diastrophic Dysplasia	Increased bone mineral density, Camptodactyly of finger, Joint stiffness, Kyphosis, Cryptorchidis...	ORPHA:628
Nodular Non-Suppurative Panniculitis	Hepatomegaly, Aplasia/Hypoplasia of the skin, Splenomegaly, Subcutaneous nodule, Erythema, Weight...	ORPHA:33577
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy	Nonprogressive muscular atrophy, Distal amyotrophy, Cachexia, Joint stiffness	ORPHA:1216
Oculocutaneous Albinism Type 3	White eyelashes, White eyebrow, Freckling, Blue nevus, Absent skin pigmentation, Blue irides, Red...	ORPHA:79433
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23	Proximal muscle weakness in upper limbs, Internally nucleated skeletal muscle fibers, Elevated ci...	OMIM:618138
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency	Hypertriglyceridemia, Hepatitis, Obesity, Cholestasis, Increased LDL cholesterol concentration, A...	ORPHA:209902
Cockayne Syndrome	Skeletal muscle atrophy, Dry hair, Congenital contracture, Hepatomegaly, Cryptorchidism, Contract...	ORPHA:191
Intellectual Developmental Disorder, Autosomal Dominant 57	Short stature, Craniosynostosis, Kyphosis, Contracture of the proximal interphalangeal joint of t...	OMIM:618050
Mucolipidosis Iii Gamma	Short stature, Increased serum beta-hexosaminidase, Increased iduronate sulfatase level, Hyperlor...	OMIM:252605
Bartsocas-Papas Syndrome 1	Skin tags, Absent eyebrow, Alopecia, Sparse scalp hair, Inguinal hernia, Alopecia totalis, Omphal...	OMIM:263650
Fontaine Progeroid Syndrome	Bicuspid aortic valve, Redundant skin, Hypoplasia of the abdominal wall musculature, Synophrys, L...	OMIM:612289
Waardenburg Syndrome Type 2	Hypopigmentation of hair, Abnormality of the kidney, Hypopigmented skin patches, Premature grayin...	ORPHA:895
Gm1-Gangliosidosis, Type Iii	Skeletal muscle atrophy, Short stature, Kyphosis, Platyspondyly, Decreased beta-galactosidase act...	OMIM:230650
Isaacs Syndrome	Calf muscle hypertrophy, Weight loss, Hyperhidrosis	ORPHA:84142
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome	Elevated hepatic transaminase, Pruritus, Granulomatous cholangitis, Ulcerative colitis, Cholestas...	ORPHA:562639
Huntington Disease-Like 2	Weight loss	ORPHA:98934
Cockayne Syndrome Type 2	Hepatomegaly, Hypermelanotic macule, Scarring, Kyphosis, Cryptorchidism, Flexion contracture, Uve...	ORPHA:90322
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly	Scapular winging, Thick eyebrow, Ventricular septal defect, Kyphosis, Synophrys, Low anterior hai...	OMIM:617061
16Q24.3 Microdeletion Syndrome	Ventricular septal defect, Abnormal hair pattern, Highly arched eyebrow, Kyphosis, Cryptorchidism...	ORPHA:261250
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type	Distal lower limb amyotrophy, Joint laxity, Short stature, Kyphosis, Cryptorchidism, Macroglossia...	OMIM:300354
Oculocutaneous Albinism, Type Viii	Iris transillumination defect, Hypopigmentation of hair, Hypopigmentation of the skin	OMIM:619165
Griscelli Syndrome Type 3	Hypopigmentation of hair, Partial albinism, Iris hypopigmentation	ORPHA:79478
Estrogen Resistance Syndrome	Acne, Abnormality of the pubic hair, Enlarged polycystic ovaries, Increased circulating gonadotro...	ORPHA:785
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome	Large for gestational age, Palmoplantar hyperkeratosis, Sparse hair, Hepatomegaly, Elevated circu...	OMIM:280000
Carney Complex, Type 1	Elevated circulating growth hormone concentration, Cardiac myxoma, Pituitary adenoma, Multiple le...	OMIM:160980
Vacterl Association, X-Linked, With Or Without Hydrocephalus	Urethral atresia, Hydronephrosis, Enlarged kidney	OMIM:314390
Immunodeficiency 23	Membranoproliferative glomerulonephritis, Allergic rhinitis, Eczema, Erythema, Bronchiectasis, Ch...	OMIM:615816
Myofibrillar Myopathy 10	Elevated circulating creatine kinase concentration, Ankle flexion contracture, Kyphosis, Elbow fl...	OMIM:619040
Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly	Hypothyroidism, Dry hair, Low anterior hairline	OMIM:618569
Piebaldism	Macule, Hypopigmentation of hair, White eyelashes, White eyebrow, Synophrys, Piebaldism, Hypopigm...	ORPHA:2884
Cerebellofaciodental Syndrome	Ventricular septal defect, Short stature, Short neck, Sparse eyebrow, Cryptorchidism, Fine hair, ...	OMIM:616202
Selective Igm Deficiency	Fasciitis, Non-infectious meningitis, Allergic rhinitis, Keratitis, Lymphadenitis, Cellulitis, Re...	ORPHA:331235
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3	Sparse scalp hair, Sparse eyelashes, Absence of Stensen duct, Decreased response to growth hormon...	OMIM:604292
Marinesco-Sjogren Syndrome	Skeletal muscle atrophy, Short stature, Elevated circulating creatine kinase concentration, Centr...	OMIM:248800
Congenital Disorder Of Glycosylation, Type Ig	Small for gestational age, Rhizomelia, Cryptorchidism, Recurrent pneumonia, Hypocalcemia, Failure...	OMIM:607143
Denys-Drash Syndrome	Posterolateral diaphragmatic hernia, Diffuse mesangial sclerosis, Nephroblastoma, Congenital diap...	OMIM:194080
Immunodeficiency 55	Dry skin, Recurrent skin infections, Eczema, Ichthyosis	OMIM:617827
Orofaciodigital Syndrome I	Alopecia, Dry hair, Short stature, Pancreatic cysts, Abnormal heart morphology, Ovarian cyst, Hep...	OMIM:311200
Proteus Syndrome	Decreased muscle mass, Central heterochromia, Neoplasm of the thymus, Subcutaneous nodule, Abnorm...	ORPHA:744
Costello Syndrome	Hyperextensibility of the finger joints, Redundant neck skin, Limited elbow movement, Short neck,...	OMIM:218040
Xq12-Q13.3 Duplication Syndrome	Cryptorchidism, Numerous nevi, Eczema	ORPHA:314389
Chronic Hiccup	Abnormality of the diaphragm, Weight loss	ORPHA:396
Brittle Cornea Syndrome	Osteoporosis, Abnormality of hair pigmentation, Corneal scarring, Mitral valve prolapse, Increase...	ORPHA:90354
Alg1-Cdg	Kyphosis, Limitation of joint mobility, Abnormal heart morphology, Cardiomyopathy, Hypoalbuminemi...	ORPHA:79327
Basel-Vanagaite-Smirin-Yosef Syndrome	Inguinal hernia, Ventricular septal defect, Kyphosis, Recurrent pneumonia, Sparse hair, Scoliosis...	OMIM:616449
Congenital Isolated Acth Deficiency	Hyponatremia, Hyperkalemia, Hepatitis, Prolonged neonatal jaundice	ORPHA:199296
Spondylometaphyseal Dysplasia, Kozlowski Type	Cervical platyspondyly, Lumbar hyperlordosis, Limb joint contracture, Severe short stature, Abnor...	ORPHA:93314
Polymyositis	Hepatomegaly, Pericarditis, Elevated circulating creatine kinase concentration, Abnormal muscle f...	ORPHA:732
Masa Syndrome	Kyphosis, Short stature, Hyperlordosis	OMIM:303350
Trisomy 13	Preauricular pit, Ventricular septal defect, Abnormal eyelash morphology, Kyphosis, Cryptorchidis...	ORPHA:3378
Mast Cell Sarcoma	Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Weight loss, Mastocytosis	ORPHA:66661
Loeffler Endocarditis	Abnormal morphology of the chordae tendinae of the mitral valve, Pericarditis, Abnormal heart val...	ORPHA:75566
Oculocutaneous Albinism Type 4	Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism, White hair, Ocular albin...	ORPHA:79435
Arthrogryposis, Distal, Type 5	Abnormality of retinal pigmentation, Decreased muscle mass, Short stature, Limited wrist extensio...	OMIM:108145
Mucopolysaccharidosis Type 6	Sinusitis, Abnormal heart valve morphology, Ovoid vertebral bodies, Joint stiffness, Short neck, ...	ORPHA:583
Stevens-Johnson Syndrome	Macule, Acantholysis, Erythema, Weight loss, Conjunctivitis, Pancreatitis	ORPHA:36426
Desbuquois Dysplasia 1	Joint laxity, Severe short stature, Short neck, Hyperlordosis, Kyphosis, Osteoarthritis, Osteopor...	OMIM:251450
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly	Short stature, Fine hair, Hepatic fibrosis, Nail dysplasia, Sparse hair, Aplasia/Hypoplasia of th...	OMIM:614091
Maternal Uniparental Disomy Of Chromosome 6	Hydrocele testis, Inguinal hernia, Congenital adrenal hyperplasia, Eczema	ORPHA:96181
Intestinal Dysmotility Syndrome	Failure to thrive, Weight loss	OMIM:620045
Chromosome 18Q Deletion Syndrome	Inguinal hernia, Failure to thrive in infancy, Decreased response to growth hormone stimulation t...	OMIM:601808
Small Cell Carcinoma Of The Bladder	Hypercalcemia	ORPHA:284400
Lymphoproliferative Syndrome, X-Linked, 1	Hepatomegaly, Pancytopenia, Aplastic anemia, Elevated circulating C-reactive protein concentratio...	OMIM:308240
Endocrine-Cerebroosteodysplasia	Hypospadias, Adrenal hypoplasia, Cryptorchidism, Microphallus, Hyperechogenic kidneys, Enlarged k...	OMIM:612651
X-Linked Charcot-Marie-Tooth Disease Type 1	Distal lower limb amyotrophy, Kyphosis, Distal upper limb amyotrophy, Scoliosis	ORPHA:101075
Congenital Heart Defects And Skeletal Malformations Syndrome	Medial flaring of the eyebrow, Ventricular septal defect, Short stature, Congenital diaphragmatic...	OMIM:617602
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Short neck, Delayed epiphyseal ossification, Flexion contracture, Knee flexion contracture, Spars...	OMIM:210710
Pearson Marrow-Pancreas Syndrome	Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Pancreatic fibrosis, Small for ge...	OMIM:557000
Urban-Rogers-Meyer Syndrome	Short stature, Recurrent fractures, Camptodactyly of finger, Short neck, Kyphosis, Cryptorchidism...	ORPHA:3409
Seckel Syndrome	Sparse scalp hair, Short stature, Abnormal dental enamel morphology, Craniosynostosis, Cachexia, ...	ORPHA:808
Albinism, Oculocutaneous, Type Ii	Hypopigmentation of hair, Freckles in sun-exposed areas, Albinism, Blue irides, Red hair, Hypopig...	OMIM:203200
Scalp-Ear-Nipple Syndrome	Sparse axillary hair, Sparse pubic hair, Thickened skin, Fine hair, Pyelonephritis, Hypohidrosis,...	OMIM:181270
Osteogenesis Imperfecta, Type Ix	Recurrent fractures, Multiple prenatal fractures, Kyphosis, Decreased calvarial ossification, Pla...	OMIM:259440
Double Outlet Right Ventricle	Hypoparathyroidism, Failure to thrive, Ventricular septal defect, Short stature, Double outlet ri...	ORPHA:3426
Genitopatellar Syndrome	Hip contracture, Sparse scalp hair, Short stature, Cryptorchidism, Knee flexion contracture, Fine...	ORPHA:85201
Typical Nemaline Myopathy	Facial palsy, Elevated circulating creatine kinase concentration, Short neck, Hyperlordosis, Limb...	ORPHA:171436
Thanatophoric Dysplasia	Redundant skin, Joint stiffness, Abnormal sacroiliac joint morphology, Kyphosis, Joint hyperflexi...	ORPHA:2655
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia	Septic arthritis, Recurrent pneumonia, Eczema	OMIM:617780
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections	Recurrent skin infections, Recurrent pneumonia, Atopic dermatitis, Bronchiectasis, Chronic mucocu...	OMIM:619752
Wolf-Hirschhorn Syndrome	Congenital diaphragmatic hernia, Abnormal form of the vertebral bodies, Hernia, Atrial septal def...	ORPHA:280
Lateral Meningocele Syndrome	Craniofacial hyperostosis, Inguinal hernia, Ventricular septal defect, Short neck, Hyperlordosis,...	ORPHA:2789
Noonan Syndrome 1	Amegakaryocytic thrombocytopenia, Juvenile myelomonocytic leukemia, Ventricular septal defect, Fa...	OMIM:163950
Distal Deletion 12Q	Late onset atopic dermatitis, Failure to thrive in infancy, Short stature, Kyphoscoliosis, Short ...	ORPHA:96149
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities	Few cafe-au-lait spots, Nail-biting, Broad-based gait, Aggressive behavior, Hair-pulling, Polypha...	OMIM:620330
Progressive Nodular Histiocytosis	Cachexia, Subcutaneous nodule, Papule	ORPHA:158022
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia	Sinusitis, Short stature, Pneumonia, Decreased response to growth hormone stimulation test, Enter...	OMIM:307200
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15	Hypopigmentation of hair, Broad-based gait, Iris hypopigmentation, Tongue thrusting, Gait imbalan...	ORPHA:98795
Anemia, Congenital Dyserythropoietic, Type Iv	Decreased hemoglobin concentration, Circulating nucleated red blood cells, Anisocytosis, Erythroi...	OMIM:613673
Simpson-Golabi-Behmel Syndrome, Type 1	Congenital diaphragmatic hernia, Renal cyst, Hepatoblastoma, Hepatomegaly, Hypospadias, Cryptorch...	OMIM:312870
Immunodeficiency 47	Accessory spleen, Hepatomegaly, Elevated hepatic transaminase, Failure to thrive, Decreased circu...	OMIM:300972
Chromosome 1P36 Deletion Syndrome, Distal	Hypospadias, Camptodactyly of finger, Aggressive behavior, Ectopic kidney, Cryptorchidism, Synoph...	OMIM:607872
Peripheral Primitive Neuroectodermal Tumor	Back pain, Abnormal thoracic spine morphology, Torticollis, Neoplasm of the pancreas, Elevated ca...	ORPHA:370348
Whipple Disease	Hyponatremia, Hepatomegaly, Myositis, Generalized hyperpigmentation, Pericarditis, Cachexia, Myoc...	ORPHA:3452
Hereditary Amyloidosis With Primary Renal Involvement	Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ...	ORPHA:85450
Allergic Bronchopulmonary Aspergillosis	Abnormal eosinophil morphology, Abnormal fingernail morphology, Bronchiectasis, Weight loss	ORPHA:1164
3C Syndrome	Inguinal hernia, Ventricular septal defect, Abnormal mitral valve morphology, Short stature, Shor...	ORPHA:7
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities	Hepatomegaly, Short stature, Thoracolumbar scoliosis, Hyperlordosis, Kyphosis, Synophrys, Obesity...	OMIM:618443
African Trypanosomiasis	Hepatomegaly, Alopecia, Renal insufficiency, Urinary incontinence, Akinesia, Aggressive behavior,...	ORPHA:3385
Pseudomyxoma Peritonei	Abnormal peritoneum morphology, Lymphadenopathy, Weight loss, Inflammation of the large intestine...	ORPHA:26790
Autoinflammation, Immune Dysregulation, And Eosinophilia	Atopic dermatitis, Membranous nephropathy, Colonic eosinophilia, Failure to thrive, Hypothyroidism	OMIM:618999
Micro Syndrome	Abnormality of retinal pigmentation, Short stature, Joint stiffness, Kyphosis, Cryptorchidism, Sc...	ORPHA:2510
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3	Short neck, Low anterior hairline, Short stature, Hyperlordosis, Scoliosis, Nevus, Limb hypertoni...	OMIM:619950
Systemic Lupus Erythematosus	Hemolytic anemia, Alopecia, Lupus nephritis, Discoid lupus rash, Cheilitis, Lymphadenopathy, Arth...	ORPHA:536
Glycogen Storage Disease Of Heart, Lethal Congenital	Cyanosis, Cardiomegaly, Macroglossia, Myopathy, Enlarged kidney, Neonatal hypoglycemia	OMIM:261740
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type	Joint laxity, Small for gestational age, Short stature, Kyphoscoliosis, Kyphosis, Generalized joi...	ORPHA:93360
Silver-Russell Syndrome	Decreased muscle mass, Failure to thrive in infancy, Shoulder dimple, Cachexia, Short stature, Po...	ORPHA:813
Agammaglobulinemia, X-Linked	Hepatocellular carcinoma, Enteroviral hepatitis, Prostatitis, Epididymitis, Cor pulmonale, Bronch...	OMIM:300755
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development	Short stature, Kyphosis, Obesity, Scoliosis, Foot dorsiflexor weakness	OMIM:618124
Deafness, Neural, With Atypical Atopic Dermatitis	Late onset atopic dermatitis	OMIM:221700
Neonatal Inflammatory Skin And Bowel Disease	Recurrent bacterial skin infections, Chapped lip, Psoriasiform dermatitis, Pustule, Erythema, Hor...	ORPHA:294023
Autosomal Dominant Robinow Syndrome	Alopecia, Sacral dimple, Inguinal hernia, Camptodactyly of finger, Curly eyelashes, Femoral herni...	ORPHA:3107
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Hyperkeratosis	ORPHA:163966
Renal Cysts And Diabetes Syndrome	Renal cyst, Glucose intolerance, Pancreatic hypoplasia, Hypospadias, Abnormality of the kidney, A...	OMIM:137920
Familial Benign Copper Deficiency	Early balding, Acne	ORPHA:1551
Lysosomal Acid Lipase Deficiency	Bone-marrow foam cells, Microvesicular hepatic steatosis, Vacuolated lymphocytes, Xanthomatosis, ...	ORPHA:275761
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To	Eczema	OMIM:616871
Pontocerebellar Hypoplasia, Type 17	Ventricular septal defect, Secundum atrial septal defect, Kyphosis, Low anterior hairline, Intrau...	OMIM:619909
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis	Mild postnatal growth retardation, Joint stiffness, Iridocyclitis, Knee osteoarthritis, Flexion c...	ORPHA:85408
Oculodentodigital Dysplasia	Dry hair, Slow-growing hair, Uveitis, Fine hair, Joint contracture of the 5th finger, Sparse hair...	OMIM:164200
Hepatitis, Fulminant Viral, Susceptibility To	Elevated hepatic transaminase, Hepatomegaly, Fulminant hepatitis, Jaundice, Hepatic failure, Hash...	OMIM:618549
Congenital Disorder Of Glycosylation, Type Il	Hepatomegaly, Short neck, Pericardial effusion, Kyphosis, Hepatosplenomegaly, Abnormal cardiac se...	OMIM:608776
Cranio-Osteoarthropathy	Arthritis, Osteoarthritis, Eczema	ORPHA:1525
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome	Panniculitis, Subcutaneous nodule, Eczema, Dry skin	ORPHA:508542
Oncogenic Osteomalacia	Fibrous dysplasia of the bones, Increased susceptibility to fractures, Elevated circulating alkal...	ORPHA:352540
Tsh-Secreting Pituitary Adenoma	Osteopenia, Abnormal hair quantity, Enlarged pituitary gland, Elevated circulating growth hormone...	ORPHA:91347
Cockayne Syndrome Type 3	Elevated hepatic transaminase, Skeletal muscle atrophy, Dry hair, Hepatomegaly, Mild postnatal gr...	ORPHA:90324
Estrogen Resistance	Acanthosis nigricans, Breast aplasia, Acne, Polycystic ovaries	OMIM:615363
Focal Myositis	Myositis, Limitation of joint mobility, Elevated circulating creatine kinase concentration, Weigh...	ORPHA:48918
Mucopolysaccharidosis, Type Ivb	Joint laxity, Hepatomegaly, Inguinal hernia, Ovoid vertebral bodies, Joint stiffness, Grayish ena...	OMIM:253010
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)	Failure to thrive, Cachexia, Weight loss	OMIM:612075
Multiple Pterygium-Malignant Hyperthermia Syndrome	Skeletal muscle atrophy, Congenital muscular torticollis, Inguinal hernia, Severe short stature, ...	ORPHA:2215
3M Syndrome	Scapular winging, Short stature, Abnormal dental enamel morphology, Short neck, Hyperlordosis, In...	ORPHA:2616
Pleural Mesothelioma	Hepatomegaly, Lymphadenopathy, Weight loss	ORPHA:50251
Ebola Hemorrhagic Fever	Acute pancreatitis, Maculopapular exanthema, Hepatitis, Leukopenia, Lymphopenia, Thrombocytopenia	ORPHA:319218
B4Galt1-Cdg	Hypothyroidism, Inflammatory abnormality of the skin, Redundant neck skin, Small for gestational age	ORPHA:79332
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome	Renal malrotation, Multicystic kidney dysplasia, Inguinal hernia, Large for gestational age, Macr...	ORPHA:500095
Waardenburg-Shah Syndrome	Abnormal eyebrow morphology, Hypopigmentation of hair, White eyelashes, White eyebrow, Abnormalit...	ORPHA:897
Cowden Syndrome	Macule, Enlarged polycystic ovaries, Subcutaneous nodule, Hypopigmented skin patches, Melanocytic...	ORPHA:201
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction	Hypoparathyroidism, Aplasia of the thymus, Short stature, Decreased response to growth hormone st...	OMIM:618223
Yao Syndrome	Ventricular hypertrophy, Pericarditis, Inflammatory abnormality of the skin, Skin rash, Weight lo...	OMIM:617321
Meacham Syndrome	Accessory spleen, Aplasia of the right hemidiaphragm, Horseshoe kidney, Aplasia of the left hemid...	OMIM:608978
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Atrophic gastritis, Psoriasiform dermatitis, Eczema, Bronchiectasis, Arthritis, Crohn's disease	OMIM:616100
Ring Chromosome 12 Syndrome	Acne, Small for gestational age, Cryptorchidism, Hirsutism, Hypothyroidism, Breast hypoplasia, Dy...	ORPHA:1439
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome	Short stature, Cachexia, Joint stiffness	ORPHA:1144
Distal 16P11.2 Microdeletion Syndrome	Kyphosis, Low anterior hairline, Hyperuricemia, Obesity	ORPHA:261222
Degcags Syndrome	Oral-pharyngeal dysphagia, Synophrys, Bilateral renal hypoplasia, Low anterior hairline, Prematur...	OMIM:619488
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency	Rhinitis, Sinusitis, Atopic dermatitis, Otitis media	ORPHA:70593
Adrenomyeloneuropathy	Back pain, Frontal balding, Abnormal circulating fatty-acid concentration, Fine hair, Abnormality...	ORPHA:139399
Neurofibromatosis Type 1	Subcutaneous nodule, Multiple lipomas, Pheochromocytoma, Heterochromia iridis, Macule, Short stat...	ORPHA:636
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome	Hip contracture, Short stature, Cachexia, Short neck, Elbow flexion contracture, Knee flexion con...	ORPHA:371364
Nijmegen Breakage Syndrome	Abnormal hair quantity, Skeletal muscle atrophy, Hemolytic anemia, Autoimmune hemolytic anemia, S...	ORPHA:647
Rift Valley Fever	Back pain, Elevated hepatic transaminase, Skin rash, Thrombocytopenia, Jaundice, Hepatitis, Uveit...	ORPHA:319251
Mandibuloacral Dysplasia Progeroid Syndrome	Osteopenia, Hepatomegaly, Mitral valve calcification, Hypertriglyceridemia, Short stature, Elevat...	OMIM:619127
Classic Homocystinuria	Elevated hepatic transaminase, Sparse scalp hair, Abnormality of retinal pigmentation, Hepatomega...	ORPHA:394
Pseudohypoparathyroidism, Type Ia	Short stature, Short neck, Osteoporosis, Obesity, Pseudohypoparathyroidism, Subcutaneous ossifica...	OMIM:103580
Myhre Syndrome	Short neck, Sparse hair, Atrial septal defect, Vertebral fusion, Short stature, Pericardial effus...	OMIM:139210
Mitochondrial Dna Depletion Syndrome 11	Neuropathic spinal arthropathy, Facial palsy, Elevated circulating creatine kinase concentration,...	OMIM:615084
Renal Tubular Acidosis, Distal, 1	Osteomalacia, Elevated circulating creatinine concentration, Hypokalemia, Hypocalcemia, Pathologi...	OMIM:179800
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome	Abnormality of the musculature of the lower limbs, Short stature, Absent pubertal growth spurt, K...	ORPHA:464282
Melnick-Needles Syndrome	Omphalocele, Anterior concavity of thoracic vertebrae, Kyphoscoliosis, Osteolytic defects of the ...	OMIM:309350
Wrinkly Skin Syndrome	Osteopenia, Scapular winging, Inguinal hernia, Failure to thrive, Short nail, Hypoplasia of the m...	OMIM:278250
Behcet Syndrome	Erythema nodosum, Iridocyclitis, Erythema, Epididymitis, Arthritis, Patchy alopecia, Iritis	OMIM:109650
Bruck Syndrome	Short stature, Recurrent fractures, Joint stiffness, Kyphosis, Osteoporosis, Platyspondyly, Scoli...	ORPHA:2771
Osteosarcoma	Increased circulating lactate dehydrogenase concentration, Abnormal lactate dehydrogenase level, ...	ORPHA:668
Chand Syndrome	Curly hair, Nail dysplasia, Hypohidrosis	ORPHA:1401
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy	Hyponatremia, Dilated cardiomyopathy, Hypokalemia, Hypocalcemia, Hypomagnesemia	OMIM:620152
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5	Vertebral fusion, Elevated circulating creatine kinase concentration, Hyperlordosis, Kyphosis, Ac...	OMIM:607155
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Acute pancreatitis, Eczema, Perianal abscess, Lymphadenitis, Recurrent pneumonia, Ulcerative coli...	OMIM:618935
Zttk Syndrome	Curly hair, Absent gallbladder, Ventricular septal defect, Joint hypermobility, Craniosynostosis,...	OMIM:617140
Restrictive Dermopathy	Multiple joint contractures, Short nail, Camptodactyly of finger, Epidermal hyperkeratosis, Spars...	ORPHA:1662
Thanatophoric Dysplasia Type 2	Short stature, Redundant skin, Kyphosis, Limitation of joint mobility, Joint hyperflexibility, Pl...	ORPHA:93274
Primary Hepatic Neuroendocrine Carcinoma	Elevated hepatic transaminase, Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Chr...	ORPHA:100085
Paget Disease Of Bone 5, Juvenile-Onset	Osteopenia, Increased bone mineral density, Short stature, Recurrent fractures, Macular scar, Ank...	OMIM:239000
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency	Inflammatory abnormality of the skin, Sinusitis, Recurrent pneumonia, Recurrent otitis media, Fai...	ORPHA:277
Wrinkly Skin Syndrome	Osteopenia, Decreased muscle mass, Inguinal hernia, Lipodystrophy, Failure to thrive, Kyphoscolio...	ORPHA:2834
X-Linked Charcot-Marie-Tooth Disease Type 4	Skeletal muscle atrophy, Kyphosis, Scoliosis	ORPHA:101078
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii	Osteopenia, Abnormally ossified vertebrae, Alopecia, Abnormal intervertebral disk morphology, Ost...	ORPHA:2636
Neutropenia, Severe Congenital, X-Linked	Eczema	OMIM:300299
Acth-Independent Macronodular Adrenal Hyperplasia	Osteopenia, Skeletal muscle atrophy, Adrenal hyperplasia, Kyphosis, Osteoporosis, Truncal obesity...	OMIM:219080
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome	Elevated hepatic transaminase, Hepatomegaly, Hepatitis, Hyperammonemia, Hyperornithinemia, Decrea...	ORPHA:415
Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies	Sparse hair, Patchy alopecia, Short stature	OMIM:617763
Crisponi Syndrome	Camptodactyly of finger, Kyphosis, Flexion contracture, Limitation of joint mobility, Hypohidrosi...	ORPHA:1545
Interstitial Granulomatous Dermatitis With Arthritis	Inflammatory abnormality of the skin, Pruritus, Erythema, Rheumatoid arthritis, Papule	ORPHA:79099
Shwachman-Diamond Syndrome	Failure to thrive, Sinusitis, Skin rash, Eczema, Decreased response to growth hormone stimulation...	ORPHA:811
Familial Isolated Hypoparathyroidism	Hypoparathyroidism, Short stature, Abnormal dental enamel morphology, Myopathy, Hypocalcemia	ORPHA:2238
Distal Duplication 5Q	Cryptorchidism, Eczema, Aplasia/Hypoplasia of the gallbladder, Hernia	ORPHA:96097
Kenny-Caffey Syndrome, Type 2	Hypoparathyroidism, Transient hypophosphatemia, Increased bone mineral density, Severe short stat...	OMIM:127000
Intellectual Disability-Developmental Delay-Contractures Syndrome	Kyphosis, Limitation of joint mobility, Congenital foot contractures, Distal amyotrophy, Scoliosis	ORPHA:3454
Camurati-Engelmann Disease	Skeletal muscle atrophy, Hepatomegaly, Facial palsy, Cachexia, Hyperlordosis, Kyphosis, Abnormal ...	ORPHA:1328
2Q31.1 Microdeletion Syndrome	Inguinal hernia, Ventricular septal defect, Camptodactyly of finger, Short stature, Short neck, H...	ORPHA:251014
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency	Ventricular septal defect, Highly arched eyebrow, Kyphosis, Cryptorchidism, Low anterior hairline...	ORPHA:404440
Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome	Kyphosis, Abnormal testis morphology, Scoliosis, Joint stiffness	ORPHA:1548
Oculodentodigital Dysplasia, Autosomal Recessive	Sparse hair, Sparse eyelashes, Fine hair	OMIM:257850
Autoimmune Disease, Multisystem, Infantile-Onset, 1	Interstitial pneumonitis, Hypothyroidism, Eczema, Exocrine pancreatic insufficiency	OMIM:615952
Basel-Vanagaite-Smirin-Yosef Syndrome	Sparse scalp hair, Inguinal hernia, Ventricular septal defect, Sparse eyebrow, Kyphosis, Recurren...	ORPHA:464738
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease	Elevated hepatic transaminase, Hepatic steatosis, Glomerulopathy, Diabetes mellitus, Multicystic ...	ORPHA:93111
Mucopolysaccharidosis Type 4	Abnormal heart valve morphology, Abnormal dental enamel morphology, Short stature, Grayish enamel...	ORPHA:582
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease	Abnormal eyebrow morphology, Hypopigmentation of hair, Hepatomegaly, Splenomegaly, Hypopigmented ...	ORPHA:163746
Desmoplastic Small Round Cell Tumor	Abnormal peritoneum morphology, Hepatomegaly, Neoplasm of the pancreas, Cachexia, Testicular neop...	ORPHA:83469
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures	Sacral dimple, Redundant neck skin, Eczema, Pseudohypoparathyroidism, Obesity, Sparse hair, Preau...	OMIM:617157
Corticosteroid-Sensitive Aseptic Abscess Syndrome	Elevated hepatic transaminase, Neutrophilia, Liver abscess, Elevated circulating C-reactive prote...	ORPHA:54251
Plaa-Associated Neurodevelopmental Disorder	Hyperextensibility of the finger joints, Kyphosis, Hyperhidrosis, Contractures of the large joint...	ORPHA:521426
Pseudohypoparathyroidism, Type Ib	Pseudohypoparathyroidism, Hyperphosphatemia, Hypocalcemia, Obesity	OMIM:603233
Osteopetrosis With Renal Tubular Acidosis	Hepatomegaly, Pancytopenia, Abnormal circulating enzyme concentration or activity, Short stature,...	ORPHA:2785
Cutaneous Collagenous Vasculopathy	Macule, Skin rash, Pruritus, Erythema, Petechiae	ORPHA:280779
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Enlarged kidney, Micropenis, Renal dysplasia, Polycystic kidney dysplasia	OMIM:613091
Coffin-Lowry Syndrome	Skeletal muscle atrophy, Craniofacial hyperostosis, Abnormality of retinal pigmentation, Short st...	ORPHA:192
Isotretinoin-Like Syndrome	Inguinal hernia, Bicuspid aortic valve, Postnatal growth retardation, Abnormal cardiac ventricle ...	ORPHA:2306
Alagille Syndrome 1	Multiple small medullary renal cysts, Papillary thyroid carcinoma, Vesicoureteral reflux, Renal h...	OMIM:118450
Immunodeficiency 97 With Autoinflammation	Recurrent skin infections, Eczema, Enterocolitis, Colitis, Recurrent otitis media	OMIM:619802
Vascular Ehlers-Danlos Syndrome	Redundant skin, Osteoarthritis, Subcutaneous nodule, Abnormality of skin pigmentation, Periodonti...	ORPHA:286
Marfanoid-Progeroid-Lipodystrophy Syndrome	Reduced subcutaneous adipose tissue, Hyperextensibility of the finger joints, Scapular winging, L...	OMIM:616914
Spondyloepiphyseal Dysplasia Tarda, X-Linked	Back pain, Lumbar hyperlordosis, Short neck, Postnatal growth retardation, Kyphosis, Limitation o...	OMIM:313400
Hardikar Syndrome	Intrahepatic bile duct cysts, Cholangitis, Hepatic fibrosis, Vesicoureteral reflux, Bladder exstr...	OMIM:301068
Frank-Ter Haar Syndrome	Osteopenia, Redundant neck skin, Ventricular septal defect, Acne, Anterior concavity of thoracic ...	OMIM:249420
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome	Neuropathic spinal arthropathy, Elevated circulating creatine kinase concentration, Spinal rigidi...	ORPHA:352447
Dyrk1A-Related Intellectual Disability Syndrome	Multiple joint contractures, Small for gestational age, Eczema, Anterior pituitary hypoplasia, Cr...	ORPHA:464306
W Syndrome	Camptodactyly, Acne, Abnormality of the scalp hair, Upper lip pit	ORPHA:2804
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities	Calcinosis, Osteopenia, Hyponatremia, Splenomegaly, Growth delay, Hypokalemia, Hypocalcemia	OMIM:617913
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies	Kyphosis, Contractures of the large joints, Palmoplantar hyperhidrosis, Failure to thrive, Hirsut...	OMIM:617527
Riboflavin Transporter Deficiency	Skeletal muscle atrophy, Facial palsy, Cachexia, Limb muscle weakness, Iris hypopigmentation	ORPHA:97229
Budd-Chiari Syndrome	Elevated hepatic transaminase, Hepatomegaly, Acute hepatic failure, Portal hypertension, Splenome...	ORPHA:131
Multiple Pterygium Syndrome, Escobar Variant	Multiple joint contractures, Congenital diaphragmatic hernia, Short neck, Flexion contracture, Kn...	OMIM:265000
Inflammatory Pseudotumor Of The Liver	Elevated circulating aspartate aminotransferase concentration, Elevated circulating alpha-fetopro...	ORPHA:90003
8P23.1 Microdeletion Syndrome	Short stature, Congenital diaphragmatic hernia, Short neck, Cryptorchidism, Obesity, Weight loss,...	ORPHA:251071
Inflammatory Bowel Disease (Crohn Disease) 1	Ulcerative colitis, Weight loss, Growth delay, Inflammation of the large intestine, Recurrent aph...	OMIM:266600
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Decreased response to growth hormone stimulation test, Hypoplastic toenails, Synophrys, Aspiratio...	ORPHA:444077
Attrv30M Amyloidosis	Cardiomyopathy, Weight loss, Cardiomegaly	ORPHA:85447
Oculocutaneous Albinism Type 2	Abnormality of retinal pigmentation, Hypopigmentation of hair, White eyelashes, White eyebrow, Ab...	ORPHA:79432
Hoyeraal-Hreidarsson Syndrome	Sparse scalp hair, Generalized hyperpigmentation, Ataxia, Premature graying of hair, Excessive wr...	ORPHA:3322
Xfe Progeroid Syndrome	Elevated hepatic transaminase, Failure to thrive, Severe short stature, Cachexia, Absence of subc...	OMIM:610965
Ruvalcaba Syndrome	Inguinal hernia, Short stature, Kyphosis, Cryptorchidism, Scoliosis, Delayed puberty, Limited elb...	OMIM:180870
Diencephalic Syndrome	Decreased body weight, Cachexia, Hyperhidrosis	ORPHA:1672
Hypocalcemia, Autosomal Dominant 1	Short stature, Hypokalemia, Hyperphosphatemia, Increased circulating renin level, Hypocalcemia, H...	OMIM:601198
Erdheim-Chester Disease	Increased bone mineral density, Osteomyelitis, Skin rash, Abnormal pericardium morphology, Retrop...	ORPHA:35687
Castleman Disease	Myelofibrosis, Generalized lymphadenopathy, Elevated circulating C-reactive protein concentration...	ORPHA:160
Wolf-Hirschhorn Syndrome	Decreased muscle mass, Abnormal form of the vertebral bodies, Hyperconvex fingernails, Atrial sep...	OMIM:194190
Osteogenesis Imperfecta, Type Iii	Recurrent fractures, Severe generalized osteoporosis, Multiple prenatal fractures, Kyphosis, Decr...	OMIM:259420
T-Cell Immunodeficiency With Thymic Aplasia	Failure to thrive, Aplasia of the thymus, Recurrent pneumonia, Bronchiectasis, Pyoderma, Eczemato...	OMIM:242700
Pseudoachondroplasia	Joint laxity, Lumbar hyperlordosis, Limited hip extension, Hypoplasia of the odontoid process, De...	OMIM:177170
Fanconi Anemia	Reduced bone mineral density, Abnormality of skin pigmentation, Leukopenia, Abnormality of the li...	ORPHA:84
Caroli Syndrome	Liver abscess, Cholangitis, Conjugated hyperbilirubinemia, Abnormal intrahepatic bile duct morpho...	ORPHA:480520
Weismann-Netter Syndrome	Severe short stature, Kyphosis, Horizontal sacrum, Scoliosis, Calvarial hyperostosis	OMIM:112350
Acute Promyelocytic Leukemia	Pancytopenia, Thrombocytopenia, Leukocytosis, Weight loss, Lymphadenopathy, Leukopenia, Anemia, N...	ORPHA:520
Complete Androgen Insensitivity Syndrome	Acne, Sparse axillary hair, Elevated circulating luteinizing hormone level, Bilateral cryptorchid...	ORPHA:99429
Marden-Walker Syndrome	Decreased muscle mass, Inguinal hernia, Dextrocardia, Short neck, Postnatal growth retardation, K...	OMIM:248700
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Hyperextensibility of the finger joints, Absent gallbladder, Ventricular septal defect, Short sta...	ORPHA:163979
Lujo Hemorrhagic Fever	Elevated hepatic transaminase, Stiff neck, Skin rash, Maculopapular exanthema, Elevated circulati...	ORPHA:319213
Al Amyloidosis	Hepatomegaly, Increased circulating NT-proBNP concentration, Howell-Jolly bodies, Abnormal cardia...	ORPHA:85443
6Q Terminal Deletion Syndrome	Highly arched eyebrow, Low anterior hairline, Obesity, Hyperkeratosis, Failure to thrive	ORPHA:75857
Bannayan-Riley-Ruvalcaba Syndrome	Skeletal muscle atrophy, Short stature, Cachexia, Subcutaneous nodule, Myopathy, Joint hyperflexi...	ORPHA:109
Wieacker-Wolff Syndrome, Female-Restricted	Hip contracture, Short stature, Facial palsy, Short neck, Kyphosis, Achilles tendon contracture, ...	OMIM:301041
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Limited elbow movement, Increased intervertebral space, T lymphocytopenia, Abnormality of the cer...	ORPHA:508533
Pseudoxanthoma Elasticum	Acne, Skin rash, Pruritus, Subcutaneous nodule, Lack of skin elasticity, Excessive wrinkled skin,...	ORPHA:758
Sympathetic Ophthalmia	Alopecia, Poliosis, Erythema, Posterior uveitis, Vitiligo	ORPHA:79098
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland	Parathyroid agenesis, Hyperphosphatemia, Hypocalcemia, Hypomagnesemia, Congenital hypoparathyroid...	ORPHA:2239
Spondyloepiphyseal Dysplasia Congenita	Back pain, Abnormally ossified vertebrae, Lumbar hyperlordosis, Limited elbow movement, Short nec...	ORPHA:94068
Viss Syndrome	Chronic gastritis, Generalized joint laxity, Right ventricular dilatation, Atrial septal defect, ...	OMIM:619472
Hypoparathyroidism, Familial Isolated, 2	Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures	OMIM:618883
Pseudohypoparathyroidism Type 2	Calcinosis, Pseudohypoparathyroidism, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Hypoc...	ORPHA:94090
Atypical Rett Syndrome	Kyphosis, Growth delay, Inappropriate laughter, Scoliosis, Impaired social interactions	ORPHA:3095
Autosomal Recessive Spondylocostal Dysostosis	Inguinal hernia, Abnormal intervertebral disk morphology, Short stature, Camptodactyly of finger,...	ORPHA:2311
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome	Hip contracture, Short stature, Bilateral cryptorchidism, Kyphosis, Synophrys, Flexion contractur...	ORPHA:3042
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)	Elevated hepatic transaminase, Hypertyrosinemia, Failure to thrive, Hypoglycemia, 4-hydroxyphenyl...	OMIM:617156
Autosomal Recessive Faciodigitogenital Syndrome	Dry hair, Coarse hair, Hypopigmentation of hair, Widow's peak	ORPHA:1974
Huntington Disease-Like 2	Weight loss	OMIM:606438
Weismann-Netter Syndrome	Severe short stature, Kyphosis, Abnormal form of the vertebral bodies, Scoliosis, Abnormal cortic...	ORPHA:3344
Laryngotracheoesophageal Cleft Type 4	Cachexia, Abnormality of the spleen, Abnormal mesentery morphology, Abnormal form of the vertebra...	ORPHA:93941
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy	Camptodactyly of finger, Cachexia, Limitation of joint mobility, Osteolysis, Metacarpal osteolysi...	ORPHA:2774
Acute Disseminated Encephalomyelitis	Viral hepatitis, Herpes simplex encephalitis, Optic neuritis, Myelitis	ORPHA:83597
Congenital Fiber-Type Disproportion Myopathy	Hip contracture, Failure to thrive, Hypoplasia of the musculature, Ankle flexion contracture, Hyp...	ORPHA:2020
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations	Limited hip extension, Short neck, Flexion contracture, Irregular vertebral endplates, Decreased ...	OMIM:143095
Poland Syndrome	Dextrocardia, Congenital diaphragmatic hernia, Short neck, Kyphosis, Cryptorchidism, Aplasia of t...	ORPHA:2911
Spastic Paraplegia 46, Autosomal Recessive	Kyphosis, Limb muscle weakness, Lower limb muscle weakness, Scoliosis	OMIM:614409
Scapuloperoneal Spinal Muscular Atrophy	Scapular winging, Progressive distal muscular atrophy, Torticollis, Facial palsy, Peroneal muscle...	OMIM:181405
Gitelman Syndrome	Neoplasm of the pancreas, Pericardial effusion, Rhabdomyolysis, Hypermagnesemia, Delayed puberty,...	ORPHA:358
Eosinophilic Gastroenteritis	Allergic rhinitis, Elevated circulating C-reactive protein concentration, Eosinophilia, Leukocyto...	ORPHA:2070
Galloway-Mowat Syndrome 7	Eczema, Minimal change glomerulonephritis	OMIM:618348
Ring Chromosome 13 Syndrome	Alopecia, Hypoplasia of the gallbladder, Short neck, Abnormality of skin pigmentation, Growth del...	ORPHA:96176
Cole-Carpenter Syndrome 2	Osteopenia, Short stature, Recurrent fractures, Postnatal growth retardation, Kyphosis, Platyspon...	OMIM:616294
Solitary Fibrous Tumor	Abnormal peritoneum morphology, Low back pain, Reduced C-peptide level, Weight loss, Neoplasm of ...	ORPHA:2126
Adams-Oliver Syndrome 1	Alopecia, Aplasia cutis congenita on trunk or limbs, Bicuspid aortic valve, Ventricular septal de...	OMIM:100300
Harrod Syndrome	Kyphosis, Cryptorchidism, Hypopigmented skin patches, Joint hyperflexibility, Scoliosis, Intraute...	ORPHA:2115
Immunodeficiency, Common Variable, 8, With Autoimmunity	Atrophic gastritis, Psoriasiform lesion, Pneumonia, Erythema nodosum, Recurrent pneumonia, Bronch...	OMIM:614700
Pseudohypoparathyroidism, Type Ii	Hyperphosphatemia, Hypocalcemia, Pseudohypoparathyroidism	OMIM:203330
Polycythemia Vera	Myelofibrosis, Hepatomegaly, Portal hypertension, Portal vein thrombosis, Pruritus, Splenomegaly,...	ORPHA:729
Alexander Disease Type I	Cachexia, Failure to thrive, Scoliosis	ORPHA:363717
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant	Skeletal muscle atrophy, Sacral dimple, Multiple joint contractures, Kyphosis, Flexion contractur...	OMIM:618291
Juvenile Huntington Disease	Weight loss	ORPHA:248111
Wolman Disease	Hepatomegaly, Cachexia, Bone-marrow foam cells, Splenomegaly, Growth delay, Hepatic failure, Anemia	ORPHA:75233
Central Diabetes Insipidus	Hyponatremia, Failure to thrive, Weight loss	ORPHA:178029
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability	Osteopenia, Curly hair, Sacral dimple, Hyperextensible thumb, Joint laxity, Thoracolumbar scolios...	ORPHA:480880
Hermansky-Pudlak Syndrome 3	Hypopigmentation of hair, Hypopigmentation of the skin, Albinism	OMIM:614072
Lenz-Majewski Hyperostotic Dwarfism	Increased bone mineral density, Aplasia/Hypoplasia of the skin, Femoral hernia, Facial palsy, Red...	ORPHA:2658
Autosomal Recessive Hypophosphatemic Rickets	Abnormal trabecular bone morphology, Increased bone mineral density, Renal hypophosphatemia, Oste...	ORPHA:289176
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1	Inguinal hernia, Recurrent pneumonia, Excessive wrinkled skin, Molluscoid pseudotumors, Thin skin...	OMIM:225400
Idiopathic Chronic Eosinophilic Pneumonia	Atopic dermatitis, Weight loss	ORPHA:2902
15Q14 Microdeletion Syndrome	Inguinal hernia, Ventricular septal defect, Acne, Short stature, Kyphosis, Scoliosis, Atrial sept...	ORPHA:261190
Coffin-Lowry Syndrome	Hyperextensibility of the finger joints, Inguinal hernia, Short stature, Highly arched eyebrow, K...	OMIM:303600
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form	Failure to thrive, Recurrent skin infections, Skin erosion, Flexion contracture, Atypical scarrin...	ORPHA:89842
Lymphatic Filariasis	Glomerulonephritis, Orchitis, Lymphadenitis, Knee osteoarthritis, Epididymitis, Vaginal hydrocele...	ORPHA:2035
Imerslund-Gräsbeck Syndrome	Reticulocytosis, Macrocytic anemia, Pancytopenia, Angular cheilitis, Megaloblastic anemia, Anisop...	ORPHA:35858
Cdags Syndrome	Sparse scalp hair, Sparse eyelashes, Sagittal craniosynostosis, Sparse eyebrow, Kyphosis, Lambdoi...	OMIM:603116
Hypoparathyroidism, Familial Isolated, 1	Hypoparathyroidism, Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures	OMIM:146200
Acute Monoblastic/Monocytic Leukemia	Acute monocytic leukemia, Cervical lymphadenopathy, Leukocytosis, Subcutaneous nodule, Weight los...	ORPHA:514
Spondyloepimetaphyseal Dysplasia, Krakow Type	Allergic rhinitis, Eczema, Elbow contracture, Knee flexion contracture, Annular pancreas	OMIM:618162
X-Linked Intellectual Disability Due To Gria3 Mutations	Joint laxity, Facial hypotonia, Short stature, Kyphosis, Cryptorchidism, Scoliosis, Abnormality o...	ORPHA:364028
Restrictive Dermopathy 1	Sparse eyelashes, Short nail, Limb joint contracture, Epidermal hyperkeratosis, Absent eyelashes,...	OMIM:275210
Cardiac-Urogenital Syndrome	Accessory spleen, Unilateral cryptorchidism, Congenital diaphragmatic hernia, Cryptorchidism, Hep...	OMIM:618280
Coffin-Siris Syndrome 1	Dry hair, Congenital diaphragmatic hernia, Atrial septal defect, Spina bifida occulta, Joint laxi...	OMIM:135900
Psoriasis-Related Juvenile Idiopathic Arthritis	Anterior uveitis, Psoriasiform dermatitis, Psoriasiform lesion, Skin rash, Pruritus, Iridocycliti...	ORPHA:85436
Infection-Related Hemolytic Uremic Syndrome	Hyponatremia, Hemolytic anemia, Pneumonia, Myocarditis, Leukocytosis, Thrombocytopenia, Hyperkale...	ORPHA:544482
Clark-Baraitser syndrome	Joint laxity, Kyphosis, Obesity, Scoliosis, Macroorchidism	OMIM:300602
Behçet Disease	Increased inflammatory response, Myositis, Pericarditis, Acne, Orchitis, Retrobulbar optic neurit...	ORPHA:117
Amoebiasis Due To Entamoeba Histolytica	Elevated hepatic transaminase, Liver abscess, Abnormal pericardium morphology, Leukocytosis, Weig...	ORPHA:67
Classic Pantothenate Kinase-Associated Neurodegeneration	Pigmentary retinopathy, Weight loss, Aspiration pneumonia, Increased susceptibility to fractures	ORPHA:216866
Prader-Willi Syndrome Due To Translocation	Hypopigmentation of the skin, Hypopigmentation of hair, Hypogonadotropic hypogonadism, Decreased ...	ORPHA:177907
Stickler Syndrome, Type I	Joint stiffness, Kyphosis, Osteoarthritis, Mitral valve prolapse, Arthritis, Platyspondyly, Scoli...	OMIM:108300
Pelizaeus-Merzbacher Disease	Failure to thrive in infancy, Short stature, Cachexia, Joint stiffness, Kyphosis, Scoliosis	ORPHA:702
Microcephaly-Cervical Spine Fusion Anomalies Syndrome	Short stature, Hyperlordosis, Short neck, Kyphosis, Fused cervical vertebrae, Abnormal reticulocy...	ORPHA:2522
Pulmonary Non-Tuberculous Mycobacterial Infection	Pericardial effusion, Lymphadenopathy, Bronchiectasis, Weight loss	ORPHA:411703
Smith-Mccort Dysplasia 1	Multicentric femoral head ossification, Short stature, Short neck, Hypoplasia of the odontoid pro...	OMIM:607326
Spondyloepiphyseal Dysplasia Congenita	Lumbar hyperlordosis, Ovoid vertebral bodies, Limited elbow movement, Short neck, Hypoplasia of t...	OMIM:183900
Acromegaly	Generalized hyperpigmentation, Abnormal fingernail morphology, Acne, Elevated circulating growth ...	ORPHA:963
Branchiooculofacial Syndrome	Short neck, Postauricular pit, Premature graying of hair, Sparse hair, Ectopic thymus tissue, Pre...	OMIM:113620
Subcorneal Pustular Dermatosis	Hyperthyroidism, Pruritus, Pustule, Erythema, Rheumatoid arthritis, Hypothyroidism	ORPHA:48377
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Back pain, Bicuspid aortic valve, Synophrys, Abnormal curvature of the vertebral column, Abnormal...	OMIM:619475
Neuropathy, Congenital Hypomyelinating, 3	Limb joint contracture, Cachexia, Flexion contracture, Facial diplegia, Arthrogryposis multiplex ...	OMIM:618186
8Q21.11 Microdeletion Syndrome	Cryptorchidism, Camptodactyly of finger, Eczema	ORPHA:284160
Triosephosphate Isomerase Deficiency	Normocytic anemia, Skeletal muscle atrophy, Hemolytic anemia, Macrocytic anemia, Kyphosis, Jaundi...	OMIM:615512
X-Linked Charcot-Marie-Tooth Disease Type 5	Skeletal muscle hypertrophy, Kyphosis, Scoliosis	ORPHA:99014
Fowler Urethral Sphincter Dysfunction Syndrome	Acne, Abnormality of the ovary, Hirsutism, Polycystic ovaries	ORPHA:2795
Thanatophoric Dysplasia Type 1	Redundant skin, Joint stiffness, Abnormal sacroiliac joint morphology, Kyphosis, Excessive wrinkl...	ORPHA:1860
Igg4-Related Thyroid Disease	Pancreatic fibrosis, Retroperitoneal fibrosis, Abnormal pituitary gland morphology, Thyroiditis, ...	ORPHA:64744
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia	Decreased hemoglobin concentration, Hepatomegaly, Highly arched eyebrow, Kyphosis, Cryptorchidism...	OMIM:619005
X-Linked Intellectual Disability, Snyder Type	Decreased muscle mass, Short stature, Recurrent fractures, Kyphoscoliosis, Sparse eyebrow, Kyphos...	ORPHA:3063
Achondroplasia	Lumbar hyperlordosis, Rhizomelia, Hip joint hypermobility, Kyphosis, Disproportionate short statu...	ORPHA:15
Cholera	Hyponatremia, Abnormal blood ion concentration, Hypokalemia, Hypocalcemia, Aspiration pneumonia, ...	ORPHA:173
Medullary Thyroid Carcinoma	Primary hyperparathyroidism, Weight loss, Lymphadenopathy, Abnormal liver parenchyma morphology, ...	ORPHA:1332
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome	Skeletal muscle atrophy, Abnormality of retinal pigmentation, Short stature, Cachexia, Kyphosis, ...	ORPHA:1969
Cardiofacioneurodevelopmental Syndrome	Ventricular septal defect, Asplenia, Kyphosis, Cryptorchidism, Abdominal situs inversus, Pulmonic...	OMIM:619123
Dysostosis, Stanescu Type	Increased bone mineral density, Short stature, Abnormal dental enamel morphology, Short neck, Hyp...	ORPHA:1798
Chronic Beryllium Disease	Mediastinal lymphadenopathy, Lymphocytic interstitial pneumonia, Abnormal proportion of CD4-posit...	ORPHA:133
Leptospirosis	Hepatomegaly, Pericarditis, Skin rash, Jaundice, Rhabdomyolysis, Hepatitis, Uveitis, Lymphadenopa...	ORPHA:509
Riddle Syndrome	Generalized lymphadenopathy, Short stature, Pneumonia, Elevated circulating alpha-fetoprotein con...	ORPHA:420741
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2	Inguinal hernia, Cutis laxa, Atrophic scars, Follicular hyperkeratosis, Umbilical hernia	OMIM:614557
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome	Macule, Fasciitis, Myositis, Pericarditis, Hypermelanotic macule, Skin rash, Orchitis, Peritoniti...	ORPHA:32960
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome	Kyphosis, Short stature, Scoliosis	ORPHA:1858
Hereditary Central Diabetes Insipidus	Growth delay, Weight loss	ORPHA:30925
Igg4-Related Aortitis	Increased inflammatory response, Low back pain, Elevated circulating C-reactive protein concentra...	ORPHA:449400
Distal Triplication 15Q	Craniosynostosis, Large for gestational age, Kyphosis, Flexion contracture, Abnormal heart morpho...	ORPHA:314588
Hypomagnesemia 1, Intestinal	Hypocalcemia, Hypomagnesemia	OMIM:602014
Anaplastic Thyroid Carcinoma	Weight loss, Lymphadenopathy, Abnormal skeletal muscle morphology, Nodular goiter, Goiter	ORPHA:142
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis	Skeletal muscle atrophy, Scapular winging, Centrally nucleated skeletal muscle fibers, Retinal pi...	OMIM:607459
Juvenile Amyotrophic Lateral Sclerosis	Skeletal muscle atrophy, Cachexia, Upper-limb joint contracture, Distal amyotrophy, Lower-limb jo...	ORPHA:300605
Cono-Spondylar Dysplasia	Short nail, Short neck, Kyphosis, Scoliosis, Failure to thrive	ORPHA:420794
Thymic Carcinoma	Neoplasm of the thymus, Mediastinal lymphadenopathy, Weight loss, Hyperhidrosis	ORPHA:99868
Osteogenesis Imperfecta	Osteopenia, Cervical kyphosis, Osteoarthritis, Flexion contracture, Abnormal form of the vertebra...	ORPHA:666
Bronchial Neuroendocrine Tumor	Hepatomegaly, Pneumonia, Chronic noninfectious lymphadenopathy, Abnormal pulmonary valve cusp mor...	ORPHA:97287
Proton-Pump Inhibitor-Responsive Esophageal Eosinophilia	Allergic rhinitis, Eosinophilic infiltration of the esophagus, Eosinophilic microabscess formatio...	ORPHA:411696
Familial Glucocorticoid Deficiency	Hyponatremia, Generalized hyperpigmentation, Cryptorchidism, Hyperkalemia, Testicular adrenal res...	ORPHA:361
Familial Pancreatic Carcinoma	Back pain, Elevated hepatic transaminase, Pancreatic adenocarcinoma, Jaundice, Extrahepatic chole...	ORPHA:1333
Lowe Oculocerebrorenal Syndrome	Elevated circulating creatine kinase concentration, Subcutaneous nodule, Bicarbonaturia, Short st...	OMIM:309000
Vici Syndrome	Hypopigmentation of hair, Elevated circulating creatine kinase concentration, Albinism, Ocular al...	OMIM:242840
Rheumatoid Arthritis	Elevated circulating C-reactive protein concentration, Joint stiffness, Weight loss, Digital flex...	OMIM:180300
Granulomatous Disease, Chronic, Autosomal Recessive, 1	Recurrent bacterial skin infections, Osteomyelitis, Discoid lupus rash, Lymphadenitis, Recurrent ...	OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2	Recurrent bacterial skin infections, Osteomyelitis, Discoid lupus rash, Lymphadenitis, Recurrent ...	OMIM:233710
Kyphoscoliotic Ehlers-Danlos Syndrome	Inguinal hernia, Synophrys, Atypical scarring of skin, Thin skin, Follicular hyperkeratosis, Umbi...	ORPHA:536545
Beta-Ketothiolase Deficiency	Hepatomegaly, Leukocytosis, Hyperammonemia, Weight loss, Hyperuricemia, Pallor, Thrombocytosis	ORPHA:134
Nocardiosis	Pericarditis, Osteomyelitis, Abnormal heart valve morphology, Pneumonia, Liver abscess, Keratitis...	ORPHA:31204
Auricular Abnormalities-Cleft Lip With Or Without Cleft Palate-Ocular Abnormalities Syndrome	Kyphosis, Periauricular skin pits	ORPHA:77300
Short Stature, Impaired Intellectual Development, Microcephaly, Hypotonia, And Ocular Anomalies	Short stature, Kyphosis, Bilateral camptodactyly, Synophrys, Growth delay, Scoliosis	OMIM:619557
Dyggve-Melchior-Clausen Disease	Beaking of vertebral bodies, Lumbar hyperlordosis, Short neck, Multicentric ossification of proxi...	OMIM:223800
Alpha-N-Acetylgalactosaminidase Deficiency Type 2	Hyperkeratosis, Subcutaneous nodule, Papule	ORPHA:79280
Autoinflammation, Panniculitis, And Dermatosis Syndrome	Lipodystrophy, Panniculitis, Skin rash, Failure to thrive in infancy	OMIM:617099
Granulomatous Disease, Chronic, Autosomal Recessive, 4	Recurrent bacterial skin infections, Osteomyelitis, Discoid lupus rash, Lymphadenitis, Recurrent ...	OMIM:233690
Multiple Endocrine Neoplasia, Type Iib	Joint laxity, Failure to thrive in infancy, Hyperlordosis, Kyphosis, Myopathy, Pheochromocytoma, ...	OMIM:162300
Hydrocephaly-Tall Stature-Joint Laxity Syndrome	Joint hyperflexibility, Umbilical hernia, Kyphosis, Scoliosis	ORPHA:2181
Somatomammotropinoma	Generalized hyperpigmentation, Abnormal fingernail morphology, Elevated circulating growth hormon...	ORPHA:314769
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency	Multiple joint contractures, Eczema, Ankle flexion contracture, Camptodactyly of finger, Cryptorc...	ORPHA:468631
Robinow Syndrome, Autosomal Dominant 3	Omphalocele, Sacral dimple, Ventricular septal defect, Hypoplastic right heart, Short stature, Sh...	OMIM:616894
Wild Type Attr Amyloidosis	Elevated circulating alkaline phosphatase concentration, Hepatomegaly, Hypertrophic cardiomyopath...	ORPHA:330001
Coccidioidomycosis	Urticarial plaque, Pericarditis, Osteomyelitis, Skin rash, Pneumonia, Indurated nodule, Pruritus,...	ORPHA:228123
Thymoma	Myositis, Aplastic anemia, Glomerulonephritis, Pure red cell aplasia, Imbalanced hemoglobin synth...	ORPHA:99867
Familial Colorectal Cancer Type X	Neoplasm of the pancreas, Pancreatic adenocarcinoma, Hepatocellular carcinoma, Abnormal circulati...	ORPHA:440437
Genitopalatocardiac Syndrome	Congenital diaphragmatic hernia, Kyphosis, Abnormal mesentery morphology, Abnormality of the gall...	ORPHA:2075
Keppen-Lubinsky Syndrome	Lack of facial subcutaneous fat, Decreased serum leptin, Flexion contracture, Absence of subcutan...	OMIM:614098
Spinocerebellar Ataxia 48	Cachexia	OMIM:618093
Lopes-Maciel-Rodan Syndrome	Kyphosis, Scoliosis	OMIM:617435
Huntington Disease-Like 1	Weight loss	ORPHA:157941
Spinocerebellar Ataxia, Autosomal Recessive 8	Kyphosis, Scoliosis	OMIM:610743
Hirschsprung Disease	Failure to thrive in infancy, Short stature, Weight loss	ORPHA:388
Fabry Disease	Hyperkeratosis, Hypohidrosis, Subcutaneous nodule, Arthritis	ORPHA:324
Kanzaki Disease	Hyperkeratosis, Dry skin, Petechiae	OMIM:609242
Familial Osteodysplasia, Anderson Type	Recurrent fractures, Kyphosis, Abnormal form of the vertebral bodies, Increased susceptibility to...	ORPHA:2769
Malignant Atrophic Papulosis	Abnormal pericardium morphology, Peritonitis, Weight loss, Arteritis, Dermal atrophy, Abnormal my...	ORPHA:679
Thyrotoxic Periodic Paralysis, Susceptibility To, 1	Goiter, Hypokalemia, Rhabdomyolysis, Weight loss	OMIM:188580
Cowden Syndrome 1	Skin tags, Acrokeratosis, Kyphosis, Thyroiditis, Palmoplantar hyperkeratosis, Hydrocele testis, O...	OMIM:158350
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans	Skin tags, Lumbar hyperlordosis, Rhizomelia, Redundant skin, Severe short stature, Kyphosis, Disp...	OMIM:616482
Systemic Capillary Leak Syndrome	Pericarditis, Myocarditis, Leukocytosis, Weight loss, Pancreatitis	ORPHA:188
Jacobsen Syndrome	Inguinal hernia, Eczema, Cryptorchidism, Annular pancreas, Aplasia/Hypoplasia of the eyebrow	ORPHA:2308
Adenocarcinoma Of The Anal Canal	Neoplasm of the liver, Skin ulcer, Lymphadenopathy	ORPHA:424016
Igg4-Related Retroperitoneal Fibrosis	Normocytic anemia, Low back pain, Deep dermal perivascular inflammatory infiltrate, Psoriasiform ...	ORPHA:49041
Intellectual Developmental Disorder, X-Linked, Syndromic 14	Kyphosis, Slender build, Scoliosis	OMIM:300676
Smith-Lemli-Opitz Syndrome	Hypopigmentation of hair, Ventricular septal defect, Abnormal dental enamel morphology, Congenita...	ORPHA:818
Exercise-Induced Malignant Hyperthermia	Anhidrosis, Elevated circulating creatine kinase concentration, Rhabdomyolysis, Hyperkalemia, Hyp...	ORPHA:466650
Craniofacioskeletal Syndrome	Absent gallbladder, Ventricular septal defect, Short stature, Cryptorchidism, Hypocalcemia, Atria...	OMIM:300712
Primrose Syndrome	Skeletal muscle atrophy, Bilateral cryptorchidism, Synophrys, Flexion contracture, Knee flexion c...	OMIM:259050
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome	Bone spicule pigmentation of the retina, Osteomyelitis, Kyphosis, Pigmentary retinopathy, Scolios...	ORPHA:88628
X-Linked Creatine Transporter Deficiency	Short stature, Redundant skin, Cachexia, Abnormal circulating creatine concentration, Joint hyper...	ORPHA:52503
Congenital Tufting Enteropathy	Weight loss, Arthritis, Cholestatic liver disease, Punctate keratitis, Failure to thrive	ORPHA:92050
Osteogenesis Imperfecta, Type Viii	Osteopenia, Joint laxity, Inguinal hernia, Recurrent fractures, Multiple prenatal fractures, Kyph...	OMIM:610915
Lynch Syndrome	Neoplasm of the pancreas, Pancreatic adenocarcinoma, Hepatocellular carcinoma, Pituitary adenoma,...	ORPHA:144
Trisomy 9P	Sacral dimple, Short neck, Hypoplastic toenails, Kyphosis, Fingernail dysplasia, Scoliosis, Hypop...	ORPHA:236
Juvenile Nephropathic Cystinosis	Hyponatremia, Hypouricemia, Elevated alkaline phosphatase of bone origin, Elevated circulating cr...	ORPHA:411634
Xeroderma Pigmentosum-Cockayne Syndrome Complex	Skin rash, Short stature, Cachexia, Numerous pigmented freckles, Dermal atrophy, Dry skin	ORPHA:220295
Cleft Palate, Proliferative Retinopathy, And Developmental Delay	Atopic dermatitis	OMIM:619074
Vexas Syndrome	Inflammatory abnormality of the skin, Neutrophilic infiltration of the skin, Chondritis of pinna,...	OMIM:301054
Chromosome 3Q13.31 Deletion Syndrome	Kyphosis, Decreased testicular size, Cryptorchidism	OMIM:615433
Acute Liver Failure	Elevated hepatic transaminase, Skin rash, Jaundice, Hepatitis, Hepatic necrosis, Hyperammonemia, ...	ORPHA:90062
Sarcoidosis, Susceptibility To, 1	Hepatomegaly, Pancytopenia, Generalized lymphadenopathy, Pericardial effusion, Iridocyclitis, Med...	OMIM:181000
Spastic Paraplegia, Optic Atrophy, And Neuropathy	Kyphosis, Flexion contracture, Hyperhidrosis, Distal amyotrophy, Scoliosis	OMIM:609541
Pallister-Killian Syndrome	Congenital diaphragmatic hernia, Short neck, Flexion contracture, Hyperpigmented streaks, Camptod...	OMIM:601803
Neuroendocrine Tumor Of The Colon	Elevated hepatic transaminase, Hepatomegaly, Chronic noninfectious lymphadenopathy, Abnormal pulm...	ORPHA:100080
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form	Recurrent skin infections, Glomerulonephritis, Foot joint contracture, Flexion contracture, Gastr...	ORPHA:79408
Cowden Syndrome 5	Skin tags, Kyphosis, Thyroiditis, Palmoplantar hyperkeratosis, Hydrocele testis, Ovarian cyst, Sc...	OMIM:615108
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome	Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Fine hair, Onycholysis, Nail dystrophy	OMIM:614748
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome	Joint laxity, Lumbar hyperlordosis, Facial hypotonia, Kyphoscoliosis, Large for gestational age, ...	ORPHA:457359
Pneumocystosis	Abnormal neutrophil count, Weight loss, Acute infectious pneumonia, Interstitial pneumonitis, Chr...	ORPHA:723
Velocardiofacial Syndrome	Hypoparathyroidism, Inguinal hernia, Ventricular septal defect, Short stature, Cryptorchidism, Hy...	OMIM:192430
Holt-Oram Syndrome	Ventricular septal defect, Joint stiffness, Kyphosis, Anomalous pulmonary venous return, Radiouln...	ORPHA:392
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Hepatomegaly, Inflammatory abnormality of the skin, Sinusitis, Skin rash, Pneumonia, Severe B lym...	OMIM:102700
Witteveen-Kolk Syndrome	Medial flaring of the eyebrow, Inguinal hernia, Unilateral cryptorchidism, Decreased response to ...	OMIM:613406
Megalocornea-Intellectual Disability Syndrome	Osteopenia, Short stature, Kyphosis, Joint hyperflexibility, Scoliosis, Hypercholesterolemia	ORPHA:2479
Lymphedema-Distichiasis Syndrome	Ventricular septal defect, Yellow nails, Kyphosis, Tetralogy of Fallot, Conjunctivitis, Celluliti...	OMIM:153400
Pancreatic Triacylglycerol Lipase Deficiency	Osteomalacia, Osteoporosis, Rickets, Weight loss, Growth delay, Iron deficiency anemia, Keratocon...	ORPHA:309031
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency	Hyponatremia, Acne, Short stature, Frontal balding, Hyperkalemia, Testicular adrenal rest tumor, ...	ORPHA:90794
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly	Rhizomelia, Thoracolumbar scoliosis, Ovoid vertebral bodies, Hyperlordosis, Thoracic platyspondyl...	OMIM:618019
Cowden Syndrome 6	Skin tags, Kyphosis, Thyroiditis, Palmoplantar hyperkeratosis, Hydrocele testis, Ovarian cyst, Sc...	OMIM:615109
Idiopathic Bronchiectasis	Acute infectious pneumonia, Bronchiectasis, Cachexia	ORPHA:60033
Ménétrier Disease	Hypochromic microcytic anemia, Weight loss, Hypoalbuminemia, Hypoproteinemia, Giant hypertrophic ...	ORPHA:2494
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Curly hair, Hyperextensibility at elbow, Lumbar hyperlordosis, Failure to thrive in infancy, Abse...	ORPHA:500150
Familial Tumoral Calcinosis	Skin rash, Erythema, Subcutaneous nodule, Hypopigmented skin patches, Hyperhidrosis, Periarticula...	ORPHA:53715
Autosomal Dominant Kenny-Caffey Syndrome	Short stature, Postnatal growth retardation, Anemia, Cortical thickening of long bone diaphyses, ...	ORPHA:93325
Granulomatous Disease, Chronic, X-Linked	Recurrent bacterial skin infections, Osteomyelitis, Discoid lupus rash, Lymphadenitis, Recurrent ...	OMIM:306400
Marfan Syndrome	Osteopenia, Skeletal muscle atrophy, Mitral valve calcification, Arthralgia/arthritis, Inguinal h...	ORPHA:558
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Ventricular septal defect, Kyphoscoliosis, Postnatal growth retardation, Kyphosis, Cryptorchidism...	OMIM:301040
Rett Syndrome	Skeletal muscle atrophy, Short stature, Cachexia, Kyphosis, Scoliosis	OMIM:312750
Neuroendocrine Tumor Of The Rectum	Elevated hepatic transaminase, Hepatomegaly, Chronic noninfectious lymphadenopathy, Abnormal pulm...	ORPHA:100081
Neuroendocrine Tumor Of Anal Canal	Elevated hepatic transaminase, Hepatomegaly, Chronic noninfectious lymphadenopathy, Abnormal pulm...	ORPHA:100082
Infantile Krabbe Disease	Abnormal circulating enzyme concentration or activity, Cachexia, Hypopigmented skin patches, Shou...	ORPHA:206436
Floating-Harbor Syndrome	Inguinal hernia, Cryptorchidism, Atopic dermatitis, Low posterior hairline, Long eyelashes, Gener...	OMIM:136140
Neurofacioskeletal Syndrome With Or Without Renal Agenesis	Hip contracture, Supernumerary nipple, Short neck, Kyphosis, Cryptorchidism, Elbow flexion contra...	OMIM:619194
Gallbladder Neuroendocrine Tumor	Chronic noninfectious lymphadenopathy, Biliary tract neoplasm, Extrahepatic cholestasis, Weight l...	ORPHA:100086
17Q11 Microdeletion Syndrome	Osteopenia, Pheochromocytoma, Papule, Short stature, Hypermelanotic macule, Osteoporosis, Abnorma...	ORPHA:97685
Immunodeficiency 96	Recurrent otitis media, Eczema	OMIM:619774
Cryptogenic Organizing Pneumonia	Leukocytosis, Neutrophilia, Elevated circulating C-reactive protein concentration, Weight loss	ORPHA:1302
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1	Skeletal muscle atrophy, Thoracic scoliosis, Ventricular septal defect, Kyphosis, Knee flexion co...	OMIM:603387
Diffuse Alveolar Hemorrhage	Leukocytosis, Elevated circulating creatinine concentration, Weight loss, Anemia, Thrombocytopenia	ORPHA:90060
Peritoneal Cystic Mesothelioma	Peritonitis, Weight loss	ORPHA:168816
Mosaic Trisomy 20	Vertebral fusion, Ventricular septal defect, Kyphosis, Cryptorchidism, Dysplastic tricuspid valve...	ORPHA:1724
Oculocerebral Hypopigmentation Syndrome, Cross Type	Hypopigmentation of hair, Inguinal hernia, Ataxia, Ureteral stenosis, Cryptorchidism, Ocular albi...	ORPHA:2719
Malignant Peritoneal Mesothelioma	Peritonitis, Weight loss	ORPHA:168811
Warburg-Cinotti Syndrome	Ankle flexion contracture, Erythema, Elbow flexion contracture, Thin skin, Follicular hyperkerato...	OMIM:618175
Trisomy 18	Omphalocele, Abnormality of retinal pigmentation, Ventricular septal defect, Camptodactyly of fin...	ORPHA:3380
Nephroblastoma	Neoplasm of the liver, Lymphadenopathy, Weight loss	ORPHA:654
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome	Hypoparathyroidism, Psoriasiform dermatitis, Abnormal heart morphology, Parathyroid hypoplasia, S...	ORPHA:2237
Mend Syndrome	Sacral dimple, Failure to thrive, Short stature, Kyphosis, Elevated 8-dehydrocholesterol, Elevate...	ORPHA:401973
Immunodeficiency 17	Recurrent otitis media, Failure to thrive, Eczema, Chronic oral candidiasis	OMIM:615607
Idiopathic Juvenile Osteoporosis	Kyphosis, Vertebral compression fracture, Osteoporosis, Recurrent fractures	ORPHA:85193
Thyrotoxic Periodic Paralysis	Episodic hypokalemia, Transient hypophosphatemia, Abnormal muscle fiber morphology, Rhabdomyolysi...	ORPHA:79102
Sapho Syndrome	Psoriasiform dermatitis, Acne, Osteomyelitis, Skin rash, Recurrent skin infections, Pustule, Syno...	ORPHA:793
Chikungunya	Macule, Maculopapular exanthema, Skin rash, Pruritus, Erythema nodosum, Erythema, Crusting erythe...	ORPHA:324625
Waardenburg Syndrome	Abnormal eyebrow morphology, Hypopigmentation of hair, Synophrys, Hypopigmented skin patches, Pre...	ORPHA:3440
Osteogenesis Imperfecta, Type Iv	Short stature, Recurrent fractures, Biconcave flattened vertebrae, Kyphosis, Increased susceptibi...	OMIM:166220
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion	Short stature, Overweight, Kyphosis, Cryptorchidism, Flexion contracture, Scoliosis, Failure to t...	ORPHA:500055
Junctional Epidermolysis Bullosa With Pyloric Atresia	Recurrent skin infections, Urinary bladder inflammation, Nail dystrophy, Aplasia cutis congenita,...	ORPHA:79403
Marfanoid Habitus With Situs Inversus	Hyperextensibility of the finger joints, Situs inversus totalis, Kyphosis, Mitral valve prolapse,...	OMIM:609008
Deaf Blind Hypopigmentation Syndrome, Yemenite Type	Hypopigmentation of hair, Hypopigmented skin patches, Gait disturbance, Multiple cafe-au-lait spo...	ORPHA:3214
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder	Kyphosis, Limb hypertonia	ORPHA:500180
Wiedemann-Rautenstrauch Syndrome	Decreased response to growth hormone stimulation test, Synophrys, Acanthosis nigricans, Sparse ha...	ORPHA:3455
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2	Chronic gastritis, Skin rash, Elevated circulating C-reactive protein concentration, Perianal abs...	OMIM:301074
Muenke Syndrome	Hypopigmentation of hair, Hypopigmented skin patches, Hypermelanotic macule	ORPHA:53271
Congenital Enterocyte Heparan Sulfate Deficiency	Abnormal circulating protein concentration, Abnormal circulating polysaccharide concentration, Hy...	ORPHA:103910
Diarrhea 10, Protein-Losing Enteropathy Type	Hyponatremia, Hypertriglyceridemia, Pericardial effusion, Cryptorchidism, Hypoalbuminemia, Hypoca...	OMIM:618183
Myasthenic Syndrome, Congenital, 20, Presynaptic	Skeletal muscle atrophy, Facial palsy, Kyphosis, Scoliosis, Arthrogryposis multiplex congenita	OMIM:617143
Neuroendocrine Tumor Of Stomach	Elevated hepatic transaminase, Hepatomegaly, Chronic noninfectious lymphadenopathy, Abnormal pulm...	ORPHA:100075
Marden-Walker Syndrome	Skeletal muscle atrophy, Severe short stature, Ventricular septal defect, Dextrocardia, Camptodac...	ORPHA:2461
Inflammatory Bowel Disease 11	Inflammation of the large intestine, Weight loss	OMIM:191390
Dystonia 1, Torsion, Autosomal Dominant	Torticollis, Multiple joint contractures, Facial palsy, Hyperlordosis, Kyphosis, Scoliosis	OMIM:128100
Primary Triglyceride Deposit Cardiomyovasculopathy	Hepatomegaly, Inflammatory abnormality of the skin, Abnormal circulating enzyme concentration or ...	ORPHA:565612
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome	Short stature, Cachexia	ORPHA:1389
Campomelic Dysplasia	Poorly ossified cervical vertebrae, Short stature, Recurrent fractures, Short neck, Kyphosis, Ski...	ORPHA:140
Mullerian Aplasia And Hyperandrogenism	Acne, Hirsutism	OMIM:158330
Thyrotoxic Periodic Paralysis, Susceptibility To, 2	Goiter, Hypokalemia, Weight loss	OMIM:613239
Klatskin Tumor	Hepatomegaly, Cholangiocarcinoma, Jaundice, Extrahepatic cholestasis, Weight loss, Lymphadenopathy	ORPHA:99978
Osteoporosis-Pseudoglioma Syndrome	Osteopenia, Ventricular septal defect, Recurrent fractures, Kyphoscoliosis, Short stature, Kyphos...	OMIM:259770
Perry Syndrome	Weight loss	ORPHA:178509
Stickler Syndrome	Skeletal muscle atrophy, Short stature, Abnormal dental enamel morphology, Cachexia, Kyphosis, Os...	ORPHA:828
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome	Atopic dermatitis	ORPHA:3240
Yunis-Varon Syndrome	Redundant neck skin, Anterior concavity of thoracic vertebrae, Palmoplantar hyperkeratosis, Absen...	OMIM:216340
Familial Thrombocytosis	Acute myeloid leukemia, Pruritus, Splenomegaly, Weight loss, Hyperhidrosis, Chronic myelogenous l...	ORPHA:71493
Cole-Carpenter Syndrome	Short stature, Abnormal dental enamel morphology, Recurrent fractures, Kyphosis, Abnormal form of...	ORPHA:2050
Pulmonary Alveolar Microlithiasis	Hepatomegaly, Mitral valve calcification, Abnormal circulating calcium concentration, Bronchiecta...	ORPHA:60025
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome	Bronchiectasis, Weight loss	ORPHA:79127
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome	Pericardial effusion, Dilated cardiomyopathy, Hepatic calcification, Hypocalcemia, Hypomagnesemia...	ORPHA:73224
Oculocutaneous Albinism Type 1B	Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism, Melanocytic nevus, Freck...	ORPHA:79434
Microphthalmia, Lenz Type	Short stature, Camptodactyly of finger, Hyperlordosis, Kyphosis, Cryptorchidism, Scoliosis, Preau...	ORPHA:568
Cap Polyposis	Atrophic gastritis, Weight loss	ORPHA:160148
Ectodermal Dysplasia, Sensorineural Hearing Loss, And Distinctive Facial Features	Inguinal hernia, Trichiasis, Sparse eyebrow, Kyphosis, Thin eyebrow	OMIM:609944
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion	Sacral dimple, Inguinal hernia, Ventricular septal defect, Abnormal pulmonary valve morphology, S...	ORPHA:268261
Neuroblastoma, Susceptibility To, 1	Skin nodule, Failure to thrive, Anemia, Weight loss	OMIM:256700
Perry Syndrome	Inappropriate behavior, Weight loss	OMIM:168605
Progressive Non-Infectious Anterior Vertebral Fusion	Proximal radio-ulnar synostosis, Abnormal intervertebral disk morphology, Joint stiffness, Spinal...	ORPHA:2062
Fryns-Smeets-Thiry Syndrome	Joint hyperflexibility, Cachexia, Short stature, Scoliosis	ORPHA:2058
Charge Syndrome	Decreased response to growth hormone stimulation test, Secundum atrial septal defect, Hemivertebr...	OMIM:214800
Ermine Phenotype	Hypopigmentation of hair, Ocular albinism, Hypopigmented skin patches, Irregular hyperpigmentatio...	ORPHA:999
Developmental Malformations-Deafness-Dystonia Syndrome	Macroglossia, Short stature, Kyphosis, Scoliosis	ORPHA:79107
Choreoacanthocytosis	Hepatomegaly, Elevated circulating creatine kinase concentration, Elevated circulating aspartate ...	ORPHA:2388
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z	Flexion contracture of finger, Joint contracture of the hand, Atopic dermatitis, Congenital finge...	ORPHA:466768
Isolated Permanent Neonatal Diabetes Mellitus	Weight loss, Abnormal heart morphology, Lower-limb joint contracture, Pancreatic hypoplasia, Arth...	ORPHA:99885
Liposarcoma	Subcutaneous nodule, Weight loss	ORPHA:69078
Thrombocytopenia 1	Eczema, Petechiae	OMIM:313900
Generalized Glucocorticoid Resistance Syndrome	Adrenal hyperplasia, Acne, Frontal balding, Increased circulating cortisol level, Decreased circu...	ORPHA:786
Monosomy 9Q22.3	Ovarian fibroma, Rhabdomyosarcoma, Short neck, Palmar pits, Kyphosis, Large for gestational age, ...	ORPHA:77301
Wiskott-Aldrich Syndrome	Eczema, Recurrent pneumonia, Ulcerative colitis, Inflammation of the large intestine, Recurrent s...	OMIM:301000
Cirrhosis, Familial	Fulminant hepatitis, Micronodular cirrhosis, Jaundice, Biliary cirrhosis, Increased level of prop...	OMIM:215600
Foxg1 Syndrome Due To 14Q12 Microdeletion	Growth delay, Macroglossia, Kyphosis, Scoliosis	ORPHA:261144
Acro-Renal-Mandibular Syndrome	Congenital diaphragmatic hernia, Short neck, Kyphosis, Hemivertebrae, Scoliosis, Intrauterine gro...	ORPHA:958
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation	Joint laxity, Hyperlordosis, Sparse eyebrow, Kyphosis, Large for gestational age, Scoliosis	OMIM:617011
Aspartylglucosaminuria	Joint laxity, Hepatomegaly, Acne, Short stature, Kyphosis, Vacuolated lymphocytes, Neutropenia, M...	OMIM:208400
Intellectual Developmental Disorder, X-Linked, Syndromic 34	Joint laxity, Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, Kyphoscol...	OMIM:300967
Alkaptonuria	Vertebral fusion, Mitral valve calcification, Low back pain, Aortic valve calcification, Kyphosis...	OMIM:203500
Oculopharyngodistal Myopathy 1	Autophagic vacuoles, Facial palsy, Elevated circulating creatine kinase concentration, Dilated ca...	OMIM:164310
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Failure to thrive, Ventricular septal defect, Small for gestational age, Ankle flexion contractur...	ORPHA:464311
Pyomyositis	Recurrent cutaneous abscess formation, Myositis, Leukocytosis, Subcutaneous nodule, Weight loss, ...	ORPHA:764
Spondyloperipheral Dysplasia	Short stature, Ovoid vertebral bodies, Short neck, Rhizomelic leg shortening, Kyphosis, Irregular...	OMIM:271700
Ehlers-Danlos Syndrome, Arthrochalasia Type, 2	Hyperextensibility of the finger joints, Hyperlordosis, Kyphosis, Atrophic scars, Scoliosis, Join...	OMIM:617821
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)	Elevated circulating deoxyuridine concentration, Cachexia, Ragged-red muscle fibers, Weight loss,...	OMIM:603041
Ileal Neuroendocrine Tumor	Elevated hepatic transaminase, Tricuspid stenosis, Extrahepatic cholestasis, Lymphadenopathy, Wei...	ORPHA:100078
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia	Osteopenia, Bicoronal synostosis, Kyphosis, Cryptorchidism, Osteoporosis, Scoliosis, Delayed pube...	OMIM:619718
Spondyloarthropathy, Susceptibility To, 1	Back pain, Anterior uveitis, Psoriasiform dermatitis, Kyphosis, Oligoarthritis, Enthesitis, Infla...	OMIM:106300
Brachyolmia Type 3	Short neck, Kyphosis, Childhood-onset short-trunk short stature, Platyspondyly, Scoliosis	OMIM:113500
Oromandibular Dystonia	Torticollis, Weight loss	ORPHA:93958
Brown-Vialetto-Van Laere Syndrome 1	Hand muscle atrophy, Skeletal muscle atrophy, Facial palsy, Kyphosis, Scoliosis	OMIM:211530
Primary Fanconi Renotubular Syndrome	Hypouricemia, Osteomalacia, Bicarbonaturia, Increased susceptibility to fractures, Hypophosphatem...	ORPHA:3337
Igg4-Related Dacryoadenitis And Sialadenitis	Myositis, Retroperitoneal fibrosis, Enlarged lacrimal glands, Thyroiditis, Weight loss, Lymphaden...	ORPHA:79078
Mend Syndrome	Sacral dimple, Redundant neck skin, Short stature, Kyphosis, Cryptorchidism, Spotty hypopigmentat...	OMIM:300960
Autosomal Recessive Ataxia, Beauce Type	Skeletal muscle atrophy, Kyphosis, Lower limb muscle weakness, Scoliosis	ORPHA:88644
Albinism, Oculocutaneous, Type Ia	Hypopigmentation of hair, Albinism, Absent skin pigmentation, White hair, Blue irides, Ocular alb...	OMIM:203100
Fatal Familial Insomnia	Weight loss, Hyperhidrosis	OMIM:600072
Granulomatous Disease, Chronic, Autosomal Recessive, 3	Colitis, Recurrent aphthous stomatitis, Recurrent sinusitis, Perioral eczema	OMIM:613960
Oculogastrointestinal Muscular Dystrophy	Abnormal mitral valve morphology, Skeletal muscle atrophy, Myopathy, Cachexia	ORPHA:1876
Pseudoxanthoma Elasticum, Forme Fruste	Kyphosis, Yellow papule, Scoliosis, Mitral valve prolapse	OMIM:177850
Gastrointestinal Defects And Immunodeficiency Syndrome 2	Kyphosis, Bronchiectasis, Knee flexion contracture, Inflammation of the large intestine, Lymphopenia	OMIM:619708
Malt Lymphoma	Mediastinal lymphadenopathy, Weight loss, Hyperhidrosis, Lymphadenopathy, Posterior uveitis, Anemia	ORPHA:52417
Cleidocranial Dysplasia 1	Increased bone mineral density, Short stature, Kyphosis, Moderately short stature, Increased susc...	OMIM:119600
Tubulointerstitial Nephritis And Uveitis Syndrome	Normocytic anemia, Abnormality of retinal pigmentation, Nongranulomatous uveitis, Anterior uveiti...	ORPHA:91500
Melkersson-Rosenthal Syndrome	Inflammatory abnormality of the skin, Cheilitis	ORPHA:2483
Juvenile Polyposis Of Infancy	Refractory anemia, Short stature, Cachexia, Abnormal heart morphology, Anemia, Hypoalbuminemia, A...	ORPHA:79076
Tropical Pancreatitis	Pancreatic adenocarcinoma, Jaundice, Weight loss, Chronic calcifying pancreatitis, Abnormal pancr...	ORPHA:103918
Alzahrani-Kuwahara Syndrome	Dry skin, Eczema	OMIM:619268
Glossopharyngeal Neuralgia	Abnormality of the cervical spine, Weight loss	ORPHA:221098
Pancreatoblastoma	Elevated maternal serum alpha-fetoprotein, Jaundice, Abnormal lymph node morphology, Weight loss,...	ORPHA:677
X-Linked Alport Syndrome-Diffuse Leiomyomatosis	Keratitis, Failure to thrive, Aspiration pneumonia, Weight loss	ORPHA:1018
Gerstmann-Straussler Disease	Lower limb muscle weakness, Weight loss	OMIM:137440
Autoimmune Pulmonary Alveolar Proteinosis	Abnormal circulating protein concentration, Increased circulating lactate dehydrogenase concentra...	ORPHA:747
Orofaciodigital Syndrome Iii	Kyphosis, Hyperconvex nail	OMIM:258850
Atelis Syndrome 2	Sacral dimple, Kyphosis, Thrombocytopenia, Supravalvar pulmonary stenosis, Pulmonic stenosis, Anemia	OMIM:620185
Postencephalitic Parkinsonism	Kyphosis, Camptocormia	ORPHA:97349
Rett Syndrome, Congenital Variant	Kyphosis, Scoliosis, Impaired social interactions	OMIM:613454
Hereditary Late-Onset Parkinson Disease	Weight loss, Hypomimic face	ORPHA:411602
Tropical Endomyocardial Fibrosis	Hepatomegaly, Right ventricular cardiomyopathy, Left atrial enlargement, Cachexia, Cardiomegaly, ...	ORPHA:75565
Parkinson Disease 4, Autosomal Dominant	Weight loss	OMIM:605543
Familial Hyperthyroidism Due To Mutations In Tsh Receptor	Goiter, Small for gestational age, Thyroid hyperplasia, Weight loss	ORPHA:424
Acquired Central Diabetes Insipidus	Weight loss	ORPHA:95626
Cerebrocostomandibular Syndrome	Ventricular septal defect, Short stature, Kyphosis, Tracheomalacia, Intrauterine growth retardation	ORPHA:1393
Renal Nutcracker Syndrome	Anemia, Weight loss	ORPHA:71273
Familial Gestational Hyperthyroidism	Goiter, Thyroid hyperplasia, Weight loss	ORPHA:99819
Shprintzen Omphalocele Syndrome	Omphalocele, Lumbar hyperlordosis, Short stature, Kyphosis, Scoliosis, Decreased body weight	OMIM:182210
Autosomal Recessive Spastic Paraplegia Type 35	Kyphosis, Lower limb hypertonia, Foot dorsiflexor weakness	ORPHA:171629
Carney-Stratakis Syndrome	Weight loss	ORPHA:97286
Goodpasture Syndrome	Glomerulonephritis, Weight loss, Pallor, Increased blood urea nitrogen, Anemia	OMIM:233450
Spondyloepimetaphyseal Dysplasia, X-Linked	Joint laxity, Lumbar hyperlordosis, Abnormality of alkaline phosphatase level, Hypoplasia of the ...	OMIM:300106
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome	Cachexia	ORPHA:3217
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction	Kyphosis, Scoliosis, Aspiration pneumonia	OMIM:619482
Norrie Disease	Cachexia, Cryptorchidism, Scoliosis, Delayed puberty, Failure to thrive	ORPHA:649

Histopathology

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

There is no histopathology data for Mpzl3

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 Mpzl3.

There are 1 publication which use IMPC produced mice or data.

Title	Journal	IMPC Allele	PubMed ID
Loss of Mpzl3 function causes various skin abnormalities and greatly reduced adipose depots.	The Journal of investigative dermatology (February 2014)	Mpzl3^tm1(KOMP)Mbp	PMC4057944

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
Mpzl3^{tm1e(EUCOMM)Hmgu}	Targeted, non-conditional allele	ES Cells
Mpzl3^tm1(KOMP)Mbp	Reporter-tagged deletion allele (with selection cassette)	Targeting vectors, ES Cells
Mpzl3^{tm2e(EUCOMM)Hmgu}	Targeted, non-conditional allele	ES Cells
Mpzl3^{em1(IMPC)Ccpcz}	Exon Deletion	Mice
Mpzl3^{tm1a(EUCOMM)Hmgu}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Mpzl3^{tm2a(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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