Not currently registered for phenotyping at IMPC

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

Gene Summary

myelin protein zero-like 3
rc,  A530065I17Rik,  5430427F17Rik,  ruf

IMPC Data Collections

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

IMPC Phenotype Summary

Not Significant
Not tested


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.

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 Similarity of
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
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
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
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
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
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
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
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
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
Sparse hair, Hypothyroidism, Fine hair ORPHA:2118
Winchester Syndrome
Kyphosis, Subcutaneous nodule, Hirsutism, Osteolysis involving tarsal bones, Carpal osteolysis, G... OMIM:277950
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
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
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
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
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
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
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