| Cystic Angiomatosis Of Bone, Diffuse |
|
Cystic angiomatosis of bone |
OMIM:123880 |
| Epidermolysis Bullosa Simplex 2C, Localized |
|
Onychomadesis, Dystrophic toenail |
OMIM:619594 |
| Localized Dystrophic Epidermolysis Bullosa, Nails Only |
|
Onychogryposis of toenails, Onychogryposis, Dystrophic fingernails, Fragile nails, Nail dystrophy... |
ORPHA:158676 |
| Hypogonadotropic Hypogonadism 27 Without Anosmia |
|
Reduced response to gonadotropin-releasing hormone stimulation test, Decreased circulating lutein... |
OMIM:619755 |
| Pili Gemini |
|
Abnormal hairshaft morphology, Hair shafts flattened at irregular intervals and twisted through 1... |
ORPHA:79492 |
| Mammary-Digital-Nail Syndrome |
|
Anonychia, Nail dystrophy, Nail dysplasia |
OMIM:613689 |
| Superior Transverse Scapular Ligament, Calcification Of, Familial |
|
Ectopic ossification in ligament tissue |
OMIM:601708 |
| Ringed Hair |
|
Abnormal hair morphology |
OMIM:180600 |
| Hairy Nose Tip |
|
Abnormal hair morphology |
OMIM:139630 |
| Discoid Fibromas, Familial Multiple |
|
Abnormal hair morphology |
OMIM:190340 |
| Nail Disorder, Nonsyndromic Congenital, 8 |
|
Dystrophic toenail |
OMIM:607523 |
| Delayed Puberty, Self-Limited |
|
Hypogonadotropic hypogonadism, Decreased circulating luteinizing hormone level, Decreased circula... |
OMIM:619613 |
| Severe Combined Immunodeficiency Due To Foxn1 Deficiency |
|
Ridged nail, T lymphocytopenia, Nail pits, Congenital alopecia totalis |
ORPHA:169095 |
| Exercise Intolerance, Riboflavin-Responsive |
|
Ragged-red muscle fibers |
OMIM:616839 |
| Ectodermal Dysplasia 5, Hair/Nail Type |
|
Sparse scalp hair, Dystrophic fingernails, Absent toenail |
OMIM:614927 |
| Epidermolysis Bullosa Simplex 3, Localized Or Generalized Intermediate, With Bp230 Deficiency |
|
Nail dystrophy, Dystrophic toenail |
OMIM:615425 |
| Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia |
|
Increased bone mineral density |
OMIM:250500 |
| Epidermolysis Bullosa Pruriginosa |
|
Nail dystrophy, Nail dysplasia |
OMIM:604129 |
| 12q14 microdeletion syndrome |
|
Osteopoikilosis |
DECIPHER:76 |
| Nail Disorder, Nonsyndromic Congenital, 6 |
|
Anonychia, Nail dystrophy, Nail dysplasia |
OMIM:107000 |
| Pachyonychia Congenita 4 |
|
Nail dystrophy |
OMIM:615728 |
| Ectodermal Dysplasia 9, Hair/Nail Type |
|
Concave nail, Absent eyelashes, Nail dystrophy, Atrichia, Nail dysplasia, Sparse hair, Absent hair |
OMIM:614931 |
| Epidermolysis Bullosa Dystrophica, Autosomal Dominant |
|
Nail dystrophy, Nail dysplasia |
OMIM:131750 |
| Pyknoachondrogenesis |
|
Increased bone mineral density |
OMIM:265880 |
| Ectodermal Dysplasia 6, Hair/Nail Type |
|
Sparse hair, Alopecia, Thin toenail, Dystrophic toenail |
OMIM:614928 |
| Adrenal Hypoplasia, Congenital, With Absent Pituitary Luteinizing Hormone |
|
Congenital adrenal hypoplasia, Cryptorchidism, Decreased circulating luteinizing hormone level |
OMIM:202150 |
| Epidermolysis Bullosa Dystrophica Neurotrophica |
|
Nail dystrophy, Nail dysplasia |
OMIM:226500 |
| Osteomesopyknosis |
|
Increased bone mineral density |
OMIM:166450 |
| Epidermolysis Bullosa Simplex 2F, With Mottled Pigmentation |
|
Onychogryposis, Nail dystrophy, Nail dysplasia, Hypoplastic fifth toenail |
OMIM:131960 |
| Myopathy, Distal, With Rimmed Vacuoles |
|
Skeletal muscle atrophy, Scapular winging, Internally nucleated skeletal muscle fibers, Facial pa... |
OMIM:617158 |
| Hidrotic Ectodermal Dysplasia, Christianson-Fourie Type |
|
Sparse scalp hair, Absent eyebrow, Sparse eyelashes, Sparse axillary hair, Abnormal hair morpholo... |
ORPHA:1808 |
| Transient Bullous Dermolysis Of The Newborn |
|
Nail dystrophy |
OMIM:131705 |
| Hypotrichosis 9 |
|
Sparse scalp hair, Sparse body hair |
OMIM:614237 |
| Angioma Serpiginosum, X-Linked |
|
Sparse hair, Nail dystrophy, Fine hair |
OMIM:300652 |
| Epidermolysis Bullosa Simplex 1B, Generalized Intermediate |
|
Nail dystrophy |
OMIM:131900 |
| Melorheostosis, Isolated |
|
Hyperostosis, Increased bone mineral density |
OMIM:155950 |
| T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy |
|
Ridged nail, Alopecia, Nail dystrophy, Nail pits |
OMIM:601705 |
| Hypotrichosis 15 |
|
Sparse scalp hair |
OMIM:620177 |
| Hypotrichosis 2 |
|
Sparse scalp hair |
OMIM:146520 |
| Spinal Muscular Atrophy, Scapuloperoneal |
|
Scapular muscle atrophy, Spinal muscular atrophy, Peroneal muscle atrophy |
OMIM:271220 |
| Epidermolysis Bullosa Simplex 5D, Generalized Intermediate, Autosomal Recessive |
|
Alopecia, Nail dystrophy |
OMIM:616487 |
| Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant |
|
Internally nucleated skeletal muscle fibers, Autophagic vacuoles, Increased variability in muscle... |
OMIM:618655 |
| Melorheostosis With Osteopoikilosis |
|
Osteopoikilosis, Abnormal cortical bone morphology |
ORPHA:1879 |
| Osteopoikilosis And Dacryocystitis |
|
Osteopoikilosis |
OMIM:166705 |
| Hypogonadotropic Hypogonadism 13 With Or Without Anosmia |
|
Decreased circulating follicle stimulating hormone concentration, Decreased serum estradiol, Hypo... |
OMIM:614842 |
| Epidermolysis Bullosa, Junctional 4, Intermediate |
|
Scarring alopecia of scalp, Dystrophic fingernails, Nail dystrophy |
OMIM:619787 |
| Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Lymphopenia, Hypoplasia of the thymus |
OMIM:200900 |
| Ichthyosis Hystrix Of Curth-Macklin |
|
Hyperkeratosis, Diffuse palmoplantar hyperkeratosis, Nail dystrophy |
ORPHA:79503 |
| Hypogonadotropic Hypogonadism 10 With Or Without Anosmia |
|
Decreased circulating follicle stimulating hormone concentration, Decreased serum testosterone co... |
OMIM:614839 |
| Ribbing Disease |
|
Diaphyseal sclerosis |
OMIM:601477 |
| Epidermolysis Bullosa With Congenital Localized Absence Of Skin And Deformity Of Nails |
|
Nail dystrophy |
OMIM:132000 |
| Epidermolysis Bullosa Simplex 1A, Generalized Severe |
|
Nail dystrophy, Palmoplantar hyperkeratosis |
OMIM:131760 |
| Okt4 Epitope Deficiency |
|
Abnormal T cell morphology |
OMIM:613949 |
| Epidermolysis Bullosa Simplex With Mottled Pigmentation |
|
Alopecia, Plantar hyperkeratosis, Mixed hypo- and hyperpigmentation of the skin, Hypermelanotic m... |
ORPHA:79397 |
| Ciliary Discoordination Due To Random Ciliary Orientation |
|
Recurrent infections |
OMIM:215518 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 26 |
|
Fatty replacement of skeletal muscle, Calf muscle hypertrophy, Proximal muscle weakness in lower ... |
OMIM:618848 |
| Epidermolysis Bullosa, Junctional 5A, Intermediate |
|
Absent pubic hair, Nail dystrophy, Absent axillary hair, Onycholysis of distal fingernails, Alope... |
OMIM:619816 |
| Epidermolysis Bullosa Dystrophica, Pretibial |
|
Hyperkeratosis, Nail dystrophy |
OMIM:131850 |
| Alopecia, Congenital |
|
Sparse hair, Alopecia |
OMIM:300042 |
| Familial Isolated Café-Au-Lait Macules |
|
Multiple cafe-au-lait spots, Freckling |
ORPHA:2678 |
| Alopecia Totalis |
|
Alopecia, Alopecia of scalp |
ORPHA:700 |
| Pituitary Hormone Deficiency, Combined, 2 |
|
Decreased thyroid-stimulating hormone level, Reduced circulating prolactin concentration, Abnorma... |
OMIM:262600 |
| Hidrotic Ectodermal Dysplasia |
|
Slow-growing nails, Palmoplantar hyperkeratosis, Absent pubic hair, Sparse hair, Hyperkeratotic p... |
ORPHA:189 |
| Alopecia Areata 2 |
|
Alopecia of scalp, Patchy alopecia, Alopecia totalis, Alopecia universalis |
OMIM:610753 |
| Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Intermediate Form |
|
Plantar hyperkeratosis, Mixed hypo- and hyperpigmentation of the skin, Hypermelanotic macule, Spo... |
ORPHA:79399 |
| Osteomesopyknosis |
|
Increased bone mineral density, Abnormal cortical bone morphology |
ORPHA:2777 |
| Alopecia-Intellectual Disability Syndrome 1 |
|
Alopecia, Alopecia universalis |
OMIM:203650 |
| Alopecia, Familial Focal |
|
Patchy alopecia |
OMIM:104110 |
| Hypogonadotropic Hypogonadism 22 With Or Without Anosmia |
|
Reduced response to gonadotropin-releasing hormone stimulation test, Cryptorchidism, Decreased ci... |
OMIM:616030 |
| Alopecia-Intellectual Disability Syndrome 3 |
|
Alopecia universalis |
OMIM:613930 |
| Alopecia-Intellectual Disability Syndrome 2 |
|
Alopecia universalis |
OMIM:610422 |
| Alopecia, Androgenetic, 1 |
|
Alopecia |
OMIM:109200 |
| Hypertrichosis Lanuginosa Congenita |
|
Congenital, generalized hypertrichosis, Double eyebrow |
OMIM:145700 |
| Polyglucosan Body Myopathy 2 |
|
Pelvic girdle amyotrophy, Muscle fiber inclusion bodies, Peroneal muscle weakness, Hand muscle we... |
OMIM:616199 |
| Autosomal Dominant Generalized Dystrophic Epidermolysis Bullosa |
|
Recurrent loss of toenails and fingernails, Nail dystrophy, Absent fingernail, Dystrophic fingern... |
ORPHA:231568 |
| Ectodermal Dysplasia 8, Hair/Tooth/Nail Type |
|
Sparse scalp hair, Aplasia/Hypoplasia of the eyebrow, Sparse or absent eyelashes, Dystrophic fing... |
OMIM:602401 |
| Erythrokeratodermia Variabilis Et Progressiva 5 |
|
Abnormal hair morphology, Hyperkeratosis, Onychogryposis, Palmoplantar hyperkeratosis |
OMIM:617756 |
| Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome |
|
Increased bone mineral density |
ORPHA:75325 |
| Reticular Dysgenesis |
|
Leukopenia, Congenital agranulocytosis, Lymphopenia, Hypoplasia of the thymus |
OMIM:267500 |
| Atopic Keratoconjunctivitis |
|
Corneal opacity, Abnormal eyelid morphology, Keratitis, Loss of eyelashes, Keratoconjunctivitis s... |
ORPHA:163934 |
| Immunodeficiency 18 |
|
Decreased proportion of CD3-positive T cells, Defective T cell proliferation, Lymphopenia |
OMIM:615615 |
| Ectodermal Dysplasia 4, Hair/Nail Type |
|
Absent eyebrow, Alopecia, Brittle hair, Absent eyelashes, Onycholysis, Nail dystrophy, Sparse bod... |
OMIM:602032 |
| Epidermolysis Bullosa Simplex 6, Generalized Intermediate, With Or Without Cardiomyopathy |
|
Alopecia, Diffuse palmoplantar hyperkeratosis, Onychogryposis of toenails, Alopecia of scalp, Hyp... |
OMIM:617294 |
| Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Hepatomegaly, Failure to thrive, Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia... |
OMIM:602450 |
| Spinal Muscular Atrophy, Lower Extremity-Predominant, 1, Autosomal Dominant |
|
Type 2 muscle fiber predominance, Proximal muscle weakness in lower limbs, Proximal lower limb am... |
OMIM:158600 |
| Inflammatory Poikiloderma With Hair Abnormalities And Acral Keratoses |
|
Sparse scalp hair, Absent eyebrow, Sparse eyelashes, Sparse eyebrow, Mottled pigmentation |
OMIM:620199 |
| Palmoplantar Keratoderma And Congenital Alopecia 2 |
|
Alopecia totalis, Palmoplantar hyperkeratosis, Hyperkeratosis, Nail dystrophy, Nail dysplasia |
OMIM:212360 |
| Rothmund-Thomson Syndrome, Type 1 |
|
Absent eyebrow, Thin nail, Absent eyelashes, Hyperkeratosis, Nail dystrophy, Sparse hair, Cafe-au... |
OMIM:618625 |
| Hypotrichosis Simplex |
|
Sparse scalp hair, Alopecia, Sparse eyelashes, Sparse eyebrow, Sparse hair, Sparse body hair |
ORPHA:55654 |
| Hypotrichosis 1 |
|
Sparse eyelashes, Sparse axillary hair, Sparse pubic hair, Sparse eyebrow, Abnormality of the nai... |
OMIM:605389 |
| Hypotrichosis 11 |
|
Sparse or absent eyelashes, Alopecia universalis, Absent axillary hair, Sparse hair, Aplasia/Hypo... |
OMIM:615059 |
| Hypertrichosis, Anterior Cervical |
|
Anterior cervical hypertrichosis |
OMIM:600457 |
| Hypertrichosis Universalis Congenita, Ambras Type |
|
Congenital, generalized hypertrichosis |
OMIM:145701 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7 |
|
Distal lower limb amyotrophy, Proximal muscle weakness in upper limbs, Calf muscle hypertrophy, P... |
OMIM:601954 |
| Atrichia With Papular Lesions |
|
Sparse hair |
OMIM:209500 |
| Immunodeficiency 24 |
|
Lymphopenia, Decreased CD4:CD8 ratio, Decreased circulating IgG2 level, Reduced proportion of muc... |
OMIM:615897 |
| Hypotrichosis 10 |
|
Sparse eyebrow, Sparse eyelashes, Sparse body hair |
OMIM:614238 |
| Autosomal Recessive Generalized Epidermolysis Bullosa Simplex |
|
Ridged nail, Abnormal fingernail morphology, Hyperpigmentation of the skin, Palmoplantar hyperker... |
ORPHA:89838 |
| Hyperostosis Corticalis Generalisata |
|
Generalized osteosclerosis, Abnormal cortical bone morphology, Cranial hyperostosis |
ORPHA:3416 |
| Alopecia Universalis Congenita |
|
Absent eyebrow, Absent eyelashes, Absent pubic hair, Absent axillary hair, Alopecia universalis |
OMIM:203655 |
| Monilethrix |
|
Alopecia, Brittle hair, Abnormality of hair texture, Perifollicular hyperkeratosis, Nail dystroph... |
OMIM:158000 |
| Ringed Hair Disease |
|
Abnormal hair pattern, Fine hair |
ORPHA:169 |
| Gne Myopathy |
|
Scapular winging, Muscle fiber inclusion bodies, Hip flexor weakness, Facial palsy, Tibialis musc... |
ORPHA:602 |
| Hypotrichosis 4 |
|
Sparse scalp hair, Alopecia, Sparse eyelashes, Sparse eyebrow, Uncombable hair, Sparse body hair |
OMIM:146550 |
| Dentin Dysplasia |
|
Increased bone mineral density |
ORPHA:1653 |
| Spinal Muscular Atrophy, Facioscapulohumeral Type |
|
Skeletal muscle atrophy, Spinal muscular atrophy |
OMIM:182970 |
| Ossification Of The Posterior Longitudinal Ligament Of Spine |
|
Ectopic ossification, Increased bone mineral density |
OMIM:602475 |
| Schopf-Schulz-Passarge Syndrome |
|
Ridged nail, Narrow nail, Thin nail, Poroma, Hyperkeratosis, Palmoplantar keratoderma, Onycholysi... |
OMIM:224750 |
| Pili Bifurcati |
|
Abnormal hair morphology, Abnormality of hair texture |
ORPHA:720 |
| Nail Disorder, Nonsyndromic Congenital, 3 |
|
Abnormal hair morphology, Leukonychia, Concave nail |
OMIM:151600 |
| Intermediate Generalized Junctional Epidermolysis Bullosa |
|
Scarring alopecia of scalp, Abnormality of skin pigmentation, Palmoplantar keratoderma, Nail dyst... |
ORPHA:79402 |
| Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes |
|
T lymphocytopenia |
OMIM:242870 |
| Myopathy, Distal, 5 |
|
Myopathy, Distal amyotrophy, Muscle fiber splitting, Weakness of facial musculature, Distal lower... |
OMIM:617030 |
| Buschke-Ollendorff Syndrome |
|
Osteopoikilosis, Flexion contracture, Joint stiffness |
OMIM:166700 |
| Spermatogenic Failure 15 |
|
Abnormal circulating testosterone concentration, Abnormal circulating follicle-stimulating hormon... |
OMIM:616950 |
| Crandall Syndrome |
|
Alopecia, Brittle hair, Sensorineural hearing impairment, Fine hair, Hypogonadism, Pili torti, Ab... |
ORPHA:202 |
| Nonaka Myopathy |
|
Distal amyotrophy, EMG: myopathic abnormalities, Distal lower limb muscle weakness, Deposits immu... |
OMIM:605820 |
| Trichodysplasia-Xeroderma Syndrome |
|
Sparse scalp hair, Alopecia, Brittle hair, Sparse eyebrow, Sparse body hair, Coarse hair, Trichod... |
ORPHA:3361 |
| Van Buchem Disease |
|
Increased bone mineral density, Cranial hyperostosis, Thickened cortex of long bones |
OMIM:239100 |
| Alopecia Universalis |
|
Absent eyelashes, Absent eyebrow, Patchy alopecia, Alopecia universalis |
ORPHA:701 |
| Myopathy, Sarcoplasmic Body |
|
Skeletal muscle atrophy, Centrally nucleated skeletal muscle fibers, Increased variability in mus... |
OMIM:620286 |
| Idiopathic Trachyonychia |
|
Ridged nail, Thin nail, Concave nail, Autoimmune thrombocytopenia, Nail pits, Patchy alopecia, Na... |
ORPHA:79153 |
| Amyotonia Congenita |
|
Skeletal muscle atrophy |
OMIM:205000 |
| Dacryocystitis-Osteopoikilosis Syndrome |
|
Increased bone mineral density, Osteopoikilosis |
ORPHA:1562 |
| Hypogonadotropic Hypogonadism 24 With Or Without Anosmia |
|
Decreased circulating follicle stimulating hormone concentration, Hypogonadism, Decreased testicu... |
OMIM:229070 |
| Epidermolysis Bullosa, Junctional 1A, Intermediate |
|
Plantar hyperkeratosis, Patchy alopecia, Nail dystrophy, Fragile nails |
OMIM:226650 |
| Keratosis Linearis With Ichthyosis Congenita And Sclerosing Keratoderma |
|
Parakeratosis, Hyperconvex nail, Linear arrays of macular hyperkeratoses in flexural areas, Honey... |
OMIM:601952 |
| Acroleukopathy, Symmetric |
|
Symmetric great toe depigmentation |
OMIM:102000 |
| Hyperpigmentation, Familial Progressive, 1 |
|
Hyperpigmentation of the skin |
OMIM:614233 |
| Nasal Hyperpigmentation, Familial Transverse |
|
Hyperpigmentation of the skin |
OMIM:161530 |
| Hyperpigmentation Of Fuldauer And Kuijpers |
|
Hyperpigmentation of the skin |
OMIM:145200 |
| Tietz Syndrome |
|
Abnormality of skin pigmentation, Hypopigmentation of the skin, Hypopigmentation of hair, White e... |
ORPHA:42665 |
| Odontoonychodermal Dysplasia |
|
Ridged nail, Sparse scalp hair, Dry hair, Plantar hyperkeratosis, Short nail, Thin nail, Sparse e... |
OMIM:257980 |
| Inclusion Body Myositis |
|
Skeletal muscle atrophy, Abnormal muscle fiber morphology, Quadriceps muscle weakness, Ragged-red... |
ORPHA:611 |
| Tubular Aggregate Myopathy |
|
Centrally nucleated skeletal muscle fibers, Muscle fiber tubular inclusions, Type 2 muscle fiber ... |
ORPHA:2593 |
| Pituitary Hormone Deficiency, Combined Or Isolated, 8 |
|
Decreased thyroid-stimulating hormone level, Ectopic posterior pituitary, Decreased serum insulin... |
OMIM:620303 |
| Pituitary Hormone Deficiency, Combined, 6 |
|
Decreased thyroid-stimulating hormone level, Ectopic posterior pituitary, Decreased circulating A... |
OMIM:613986 |
| Ichthyosis-Hypotrichosis Syndrome |
|
Sparse hair |
ORPHA:91132 |
| Hypogonadotropic Hypogonadism 16 With Or Without Anosmia |
|
Cryptorchidism, Decreased circulating luteinizing hormone level, Decreased circulating follicle s... |
OMIM:614897 |
| Cooks Syndrome |
|
Abnormal toenail morphology, Dystrophic fingernails, Dystrophic toenail, Aplastic/hypoplastic toe... |
ORPHA:1487 |
| Sabinas Brittle Hair Syndrome |
|
Dry hair, Brittle hair, Nail dystrophy, Nail dysplasia, Sparse hair |
OMIM:211390 |
| Spinal Muscular Atrophy, Type Iv |
|
Spinal muscular atrophy, Quadriceps muscle atrophy, Angulated muscle fibers, Centrally nucleated ... |
OMIM:271150 |
| Candidiasis, Familial, 8 |
|
Seborrheic dermatitis, Cheilitis, Chronic oral candidiasis, Onychomycosis, Blepharitis |
OMIM:615527 |
| T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Decreased circulating IgG level, Hepatomegaly, Failure to thrive, Decreased proportion of naive T... |
ORPHA:276 |
| Leukomelanoderma, Infantilism, Mental Retardation, Hypodontia, Hypotrichosis |
|
Sparse hair |
OMIM:246500 |
| Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
|
Pancytopenia, Decreased helper T cell proportion, Hypersplenism, Splenomegaly, Cutaneous anergy |
OMIM:183350 |
| Insulin-Resistance Syndrome Type A |
|
Hyperkeratosis, Generalized hyperpigmentation, Generalized hirsutism |
ORPHA:2297 |
| Welander Distal Myopathy |
|
Distal amyotrophy, Rimmed vacuoles |
OMIM:604454 |
| Palmoplantar Keratoderma I, Striate, Focal, Or Diffuse |
|
Yellow nails, Palmoplantar hyperkeratosis, Orthokeratotic hyperkeratosis, Palmoplantar keratoderm... |
OMIM:148700 |
| Psoriasis 15, Pustular, Susceptibility To |
|
Nail dystrophy |
OMIM:616106 |
| Anonychia With Flexural Pigmentation |
|
Hypermelanotic macule, Abnormal hair morphology, Axillary and groin hyperpigmentation and hypopig... |
ORPHA:69125 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3 |
|
Proximal upper limb amyotrophy, Myopathy, Shoulder girdle muscle weakness, Limb-girdle muscular d... |
OMIM:609115 |
| Oculopharyngodistal Myopathy 2 |
|
Fatty replacement of skeletal muscle, Increased variability in muscle fiber diameter, Weakness of... |
OMIM:618940 |
| Alopecia Areata 1 |
|
Trachyonychia, Alopecia totalis, Nail pits, Patchy alopecia, Alopecia universalis |
OMIM:104000 |
| Dentin Dysplasia With Sclerotic Bones |
|
Cortical sclerosis |
OMIM:125440 |
| Porokeratosis 3, Multiple Types |
|
Nail dystrophy |
OMIM:175900 |
| Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 3 |
|
Muscle fiber inclusion bodies, Centrally nucleated skeletal muscle fibers, Proximal muscle weakne... |
OMIM:615424 |
| Epidermolysis Bullosa Acquisita |
|
Abnormal hair morphology, Nail dystrophy, Hyperpigmentation of the skin |
ORPHA:46487 |
| Dermatopathia Pigmentosa Reticularis |
|
Alopecia of scalp, Nail dystrophy, Reticular hyperpigmentation, Palmoplantar hyperkeratosis |
OMIM:125595 |
| T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant |
|
Nail dystrophy |
OMIM:618806 |
| Localized Epidermolysis Bullosa Simplex |
|
Plantar hyperkeratosis, Mixed hypo- and hyperpigmentation of the skin, Focal friction-related pal... |
ORPHA:79400 |
| Scapuloperoneal Syndrome, Neurogenic, Kaeser Type |
|
Foot dorsiflexor weakness, Peroneal muscle atrophy, Z-band streaming, Weakness of facial musculat... |
OMIM:181400 |
| Hypertrichosis, Congenital Generalized |
|
Congenital, generalized hypertrichosis, Hirsutism |
OMIM:307150 |
| Pili Torti |
|
Abnormal eyebrow morphology, Alopecia, Brittle hair, Abnormality of hair texture, Abnormality of ... |
ORPHA:2889 |
| Dystrophic Epidermolysis Bullosa Pruriginosa |
|
Hyperkeratosis, Abnormal toenail morphology, Nail dystrophy |
ORPHA:89843 |
| Hereditary Myopathy With Early Respiratory Failure |
|
Skeletal muscle atrophy, Internally nucleated skeletal muscle fibers, Tibialis muscle weakness, H... |
ORPHA:178464 |
| Flotch Syndrome |
|
Sparse eyelashes, Abnormal eyelid morphology, Abnormal eyelash morphology, Blepharitis, Inflammat... |
ORPHA:2045 |
| Basan Syndrome |
|
Palmoplantar keratoderma, Nail dystrophy, Hypermelanotic macule |
OMIM:129200 |
| Björnstad Syndrome |
|
Alopecia, Brittle hair, Hypogonadism, Sensorineural hearing impairment |
ORPHA:123 |
| Perifolliculitis Capitis Abscedens Et Suffodiens, Familial |
|
Alopecia, Alopecia of scalp |
OMIM:260910 |
| T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Failure to thrive, Alopecia, Eosinophilia, Autoimmune thrombocytopenia, Increased circulating IgA... |
ORPHA:169154 |
| Dnajb6-Related Limb-Girdle Muscular Dystrophy D1 |
|
Abnormal muscle fiber morphology, Fatty replacement of skeletal muscle, Increased variability in ... |
ORPHA:34516 |
| Spermatogenic Failure 2 |
|
Abnormal circulating testosterone concentration, Abnormal circulating follicle-stimulating hormon... |
OMIM:108420 |
| Hair Defect With Photosensitivity And Mental Retardation |
|
Brittle hair, Sparse eyelashes, Sparse eyebrow, Coarse hair, Sparse hair, Cutaneous photosensitivity |
OMIM:234030 |
| T-Cell Immunodeficiency With Thymic Aplasia |
|
Aplasia of the thymus, Hepatosplenomegaly, T lymphocytopenia, Abnormally low T cell receptor exci... |
OMIM:242700 |
| Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency |
|
Skeletal muscle atrophy, Torticollis, Fatty replacement of skeletal muscle, Increased variability... |
OMIM:613204 |
| Gnathodiaphyseal Dysplasia |
|
Osteopenia, Recurrent fractures, Thickened cortex of long bones, Mandibular osteomyelitis |
ORPHA:53697 |
| Immunodeficiency 103, Susceptibility To Fungal Infections |
|
Abnormal B cell count, Increased circulating IgE level, Hypereosinophilia, Lymphadenopathy, Abnor... |
OMIM:212050 |
| Immunodeficiency 19 |
|
T lymphocytopenia, Abnormal B cell morphology, Abnormal natural killer cell morphology |
OMIM:615617 |
| Combined Cellular And Humoral Immune Defects With Granulomas |
|
T lymphocytopenia, B lymphocytopenia |
OMIM:233650 |
| Immunodeficiency 105 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Decreased circulating IgG level, Panc... |
OMIM:619924 |
| Hypogonadotropic Hypogonadism 8 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Cryptorchidism, Absence of pubertal development, Decreased circula... |
OMIM:614837 |
| Rhabdomyolysis, Susceptibility To, 1 |
|
Type 2 muscle fiber predominance, Increased variability in muscle fiber diameter, Rhabdomyolysis,... |
OMIM:620235 |
| Endosteal Hyperostosis, Worth Type |
|
Craniofacial hyperostosis, Clavicular sclerosis, Abnormal cortical bone morphology, Generalized o... |
ORPHA:2790 |
| Woolly Hair |
|
Hypopigmentation of hair, Brittle hair, Slow-growing hair, Abnormality of hair texture, Fine hair... |
ORPHA:170 |
| Odontomicronychial Dysplasia |
|
Slow-growing nails, Thin nail, Short nail, Abnormality of the nail |
ORPHA:1811 |
| Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Adrenal cortical sclerosis, Absent specific antibody response, Autoimmune hemolytic anemia, Sever... |
OMIM:102700 |
| Vernal Keratoconjunctivitis |
|
Abnormal cornea morphology, Abnormal conjunctiva morphology, Corneal neovascularization, Punctate... |
ORPHA:70476 |
| Osteosclerotic Metaphyseal Dysplasia |
|
Increased bone mineral density, Clavicular sclerosis |
OMIM:615198 |
| 22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome) |
|
T lymphocytopenia |
DECIPHER:16 |
| Griscelli Syndrome, Type 1 |
|
Accumulation of melanosomes in melanocytes, White eyelashes, White eyebrow, Silver-gray hair, Lar... |
OMIM:214450 |
| Inclusion Body Myopathy And Brain White Matter Abnormalities |
|
Proximal muscle weakness in upper limbs, Scapular winging, Centrally nucleated skeletal muscle fi... |
OMIM:619733 |
| Limbal Stem Cell Deficiency |
|
Opacification of the corneal epithelium, Generalized opacification of the cornea, Keratitis, Corn... |
ORPHA:171673 |
| Bdv Syndrome |
|
Decreased thyroid-stimulating hormone level, Hypogonadotropic hypogonadism, Cryptorchidism, Hyper... |
OMIM:619326 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10 |
|
Skeletal muscle atrophy, Fatty replacement of skeletal muscle, Muscular dystrophy, Increased vari... |
OMIM:608807 |
| Polyendocrine-Polyneuropathy Syndrome |
|
Decreased testicular size, Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Decrease... |
ORPHA:453533 |
| Myopathy, Distal, 7, Adult-Onset, X-Linked |
|
Proximal muscle weakness in upper limbs, Scapular winging, Centrally nucleated skeletal muscle fi... |
OMIM:301075 |
| Hypophosphatemic Rickets, Autosomal Recessive, 1 |
|
Hypophosphatemic rickets, Increased bone mineral density, Rickets, Craniosynostosis |
OMIM:241520 |
| Deafness, Congenital, With Onychodystrophy, Autosomal Dominant |
|
Absent thumbnail, Nail dystrophy, Small nail, Absent fifth fingernail, Absent toenail |
OMIM:124480 |
| Witkop Syndrome |
|
Ridged nail, Concave nail, Nail pits, Fine hair, Small nail, Sparse hair |
OMIM:189500 |
| Cardiomyopathy, Dilated, 3B |
|
Increased variability in muscle fiber diameter |
OMIM:302045 |
| Hooft Disease |
|
Leukonychia |
OMIM:236300 |
| Autoimmune Lymphoproliferative Syndrome |
|
Hepatomegaly, Autoimmune hemolytic anemia, Eosinophilia, Chronic noninfectious lymphadenopathy, A... |
OMIM:601859 |
| Immunodeficiency 15A |
|
Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells... |
OMIM:618204 |
| Clouston Syndrome |
|
Alopecia, Brittle hair, Sparse eyelashes, Alopecia totalis, Slow-growing hair, Sparse eyebrow, Pa... |
OMIM:129500 |
| Adrenocortical Unresponsiveness To Acth With Postreceptor Defect |
|
Hyperpigmentation of the skin |
OMIM:202355 |
| Graham Little-Piccardi-Lassueur Syndrome |
|
Sparse pubic hair, Sparse scalp hair, Alopecia, Sparse axillary hair |
ORPHA:505 |
| Alopecia-Intellectual Disability-Hypergonadotropic Hypogonadism Syndrome |
|
Alopecia totalis |
ORPHA:1014 |
| Woolly Hair, Autosomal Recessive 3 |
|
Sparse scalp hair, Curly hair, Sparse eyelashes, Fine hair, Sparse hair, Trichorrhexis nodosa |
OMIM:616760 |
| Pachyonychia Congenita 1 |
|
Follicular hyperkeratosis, Nail dystrophy, Onychogryposis, Palmoplantar hyperkeratosis |
OMIM:167200 |
| Hypotrichosis 6 |
|
Brittle hair, Sparse eyelashes, Sparse eyebrow, Erythema, Sparse hair, Pili torti |
OMIM:607903 |
| Ectodermal Dysplasia/Skin Fragility Syndrome |
|
Absent eyebrow, Absent eyelashes, Palmoplantar hyperkeratosis, Nail dystrophy, Sparse hair, Alope... |
OMIM:604536 |
| Keratoderma Hereditarium Mutilans With Ichthyosis |
|
Alopecia, Parakeratosis, Palmoplantar hyperkeratosis, Honeycomb palmoplantar hyperkeratosis, Hype... |
ORPHA:79395 |
| Keratosis Follicularis Spinulosa Decalvans, X-Linked |
|
Sparse eyelashes, Corneal dystrophy, Keratitis, Sparse eyebrow, Folliculitis, Conjunctivitis, Ble... |
OMIM:308800 |
| Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant |
|
Splenomegaly, Decreased proportion of class-switched memory B cells, Lymphadenopathy, Increased c... |
OMIM:615513 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2 |
|
Skeletal muscle atrophy, Muscular dystrophy, Increased variability in muscle fiber diameter, EMG:... |
OMIM:253601 |
| Monilethrix |
|
Abnormal eyebrow morphology, Brittle hair, Slow-growing hair, Abnormal eyelash morphology, Fine h... |
ORPHA:573 |
| Odontomicronychial Dysplasia |
|
Slow-growing nails, Thin nail, Short nail |
OMIM:601319 |
| Kallmann Syndrome With Spastic Paraplegia |
|
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Cryptorchi... |
OMIM:308750 |
| Spinal Muscular Atrophy, Infantile, James Type |
|
Hip contracture, Distal amyotrophy, Type 1 muscle fiber predominance, Increased variability in mu... |
OMIM:619042 |
| Immunodeficiency With Hyper-Igm, Type 3 |
|
Impaired Ig class switch recombination, Absence of lymph node germinal center, Impaired memory B ... |
OMIM:606843 |
| Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis |
|
Parakeratosis, Leukonychia, Hyperkeratosis, Palmoplantar keratoderma, Nail dystrophy, Woolly hair... |
OMIM:615821 |
| Pili Torti-Onychodysplasia Syndrome |
|
Absent eyebrow, Alopecia, Brittle hair, Abnormal pinna morphology, Absent eyelashes, Dry skin, Ec... |
ORPHA:2890 |
| Dyschromatosis Universalis Hereditaria |
|
Hypermelanotic macule, Spotty hypopigmentation, Hypopigmented skin patches, Multiple cafe-au-lait... |
ORPHA:241 |
| Albinism, Oculocutaneous, Type Iii |
|
Red hair, Partial albinism, Albinism |
OMIM:203290 |
| Trichothiodystrophy 9, Nonphotosensitive |
|
Sparse eyebrow, Tiger tail banding, Sparse hair, Nail dystrophy |
OMIM:619692 |
| Olmsted Syndrome 1 |
|
Subungual hyperkeratosis, Parakeratosis, Hyperparakeratosis, Periorificial hyperkeratosis, Orthok... |
OMIM:614594 |
| Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias |
|
Absent specific antibody response, Decreased proportion of CD4+CD25+ regulatory T cells, Autoimmu... |
OMIM:619846 |
| Uncombable Hair Syndrome 3 |
|
Uncombable hair, Curly hair, Brittle hair, Pili canaliculi |
OMIM:617252 |
| Tibial Muscular Dystrophy, Tardive |
|
EMG: myopathic abnormalities, Muscular dystrophy, Rimmed vacuoles |
OMIM:600334 |
| Autosomal Recessive Palmoplantar Keratoderma And Congenital Alopecia |
|
Nail dystrophy, Palmoplantar keratoderma, Alopecia totalis |
ORPHA:1366 |
| Hypereosinophilic Syndrome, Idiopathic |
|
Splenomegaly, Eosinophilia, Myeloproliferative disorder, Hepatomegaly |
OMIM:607685 |
| Muscular Dystrophy, Pseudohypertrophic, With Internalized Capillaries |
|
Central core regions in muscle fibers, Muscular dystrophy |
OMIM:159050 |
| Immunodeficiency 76 |
|
Splenomegaly, Lymphadenopathy, T lymphocytopenia, B lymphocytopenia, Lymphopenia |
OMIM:619164 |
| Osteoporosis |
|
Osteoporosis |
OMIM:166710 |
| Myopathy, Distal, Tateyama Type |
|
Hand muscle weakness, Centrally nucleated skeletal muscle fibers, Intrinsic hand muscle atrophy, ... |
OMIM:614321 |
| Heimler Syndrome 2 |
|
Beau's lines, Leukonychia |
OMIM:616617 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 15 |
|
Myopathy, Increased variability in muscle fiber diameter, Centrally nucleated skeletal muscle fibers |
OMIM:618992 |
| Pulmonary Nodular Lymphoid Hyperplasia |
|
Mediastinal lymphadenopathy, Plasmacytosis, Follicular hyperplasia |
ORPHA:60026 |
| Atrophoderma Vermiculata |
|
Leukonychia |
OMIM:209700 |
| Mast Cell Sarcoma |
|
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Weight loss, Mastocytos... |
ORPHA:66661 |
| Uv-Sensitive Syndrome 2 |
|
Freckling |
OMIM:614621 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8 |
|
Calf muscle pseudohypertrophy, Pelvic girdle muscle atrophy, Facial palsy, Centrally nucleated sk... |
OMIM:254110 |
| Generalized Eruptive Histiocytosis |
|
Leukemia, Hypereosinophilia, Lymphadenopathy, Histiocytosis |
ORPHA:157991 |
| Immunodeficiency 104 |
|
Splenomegaly, T lymphocytopenia, Lymphadenopathy |
OMIM:608971 |
| Bazex Syndrome |
|
Parakeratosis, Yellow nails, Hyperkeratosis, Palmoplantar keratoderma, Nail dystrophy, Lip hyperp... |
ORPHA:166113 |
| Myopathy, Centronuclear, 6, With Fiber-Type Disproportion |
|
Skeletal muscle atrophy, Ankle flexion contracture, Centrally nucleated skeletal muscle fibers, C... |
OMIM:617760 |
| Ectodermal Dysplasia 7, Hair/Nail Type |
|
Sparse scalp hair, Alopecia, Brittle hair, Sparse eyelashes, Hair-nail ectodermal dysplasia, Abno... |
OMIM:614929 |
| Osteosclerosis With Ichthyosis And Fractures |
|
Cortical thickening of long bone diaphyses, Increased bone mineral density, Recurrent fractures |
OMIM:166740 |
| Immunodeficiency 30 |
|
Recurrent mycobacterial infections, Recurrent infections |
OMIM:614891 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3 |
|
Scapular winging, Ankle flexion contracture, Limb-girdle muscle weakness, Flexion contracture, Ca... |
OMIM:608099 |
| Immunodeficiency 97 With Autoinflammation |
|
Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Decreased circulating IgG level, ... |
OMIM:619802 |
| Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12 |
|
Internally nucleated skeletal muscle fibers, Fatty replacement of skeletal muscle, Flexion contra... |
ORPHA:206549 |
| Osteopenia And Sparse Hair |
|
Osteopenia, Joint laxity |
OMIM:259690 |
| Autosomal Dominant Keratitis |
|
Cataract, Keratitis, Abnormal corneal limbus morphology, Microcornea, Hypoplastic iris stroma, Op... |
ORPHA:2334 |
| Epidermolysis Bullosa Simplex With Circinate Migratory Erythema |
|
Parakeratosis, Palmoplantar hyperkeratosis, Generalized reticulate brown pigmentation, Nail dystr... |
ORPHA:158681 |
| Uterine Anomalies |
|
Bicornuate uterus, Abnormality of the uterus |
OMIM:192000 |
| Hereditary Progressive Mucinous Histiocytosis |
|
Mucinous histiocytosis, Lymphadenopathy |
ORPHA:158025 |
| Hypotrichosis 7 |
|
Sparse scalp hair, Brittle hair, Sparse eyelashes, Sparse axillary hair, Abnormal sweat gland mor... |
OMIM:604379 |
| Dilution, Pigmentary |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation |
OMIM:126070 |
| Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A |
|
Autophagic vacuoles, Facial hypotonia, Fatty replacement of skeletal muscle, Shoulder girdle musc... |
ORPHA:266 |
| Purine Nucleoside Phosphorylase Deficiency |
|
Autoimmune hemolytic anemia, Failure to thrive, Impaired T cell function, Pure red cell aplasia, ... |
OMIM:613179 |
| Hypogonadotropic Hypogonadism 23 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Decreased circulating dihydrotestosterone concentration, Decreased... |
OMIM:228300 |
| Acrokeratosis Verruciformis Of Hopf |
|
Parakeratosis, Acantholysis, Punctate palmoplantar hyperkeratosis, Leukonychia, Hyperkeratosis, N... |
ORPHA:79151 |
| Trim32-Related Limb-Girdle Muscular Dystrophy R8 |
|
Proximal muscle weakness in lower limbs, Myopathy, Increased variability in muscle fiber diameter |
ORPHA:1878 |
| Anonychia-Onychodystrophy With Hypoplasia Or Absence Of Distal Phalanges |
|
Anonychia, Nail dystrophy, Nail dysplasia |
OMIM:106995 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4 |
|
Scapular winging, Centrally nucleated skeletal muscle fibers, Fatty replacement of skeletal muscl... |
OMIM:618129 |
| Congenital Absence/Hypoplasia Of Fingers Excluding Thumb, Unilateral |
|
Short nail |
ORPHA:973 |
| Bjornstad Syndrome |
|
Alopecia, Brittle hair, Dry hair, Sensorineural hearing impairment, Coarse hair, Hypogonadism, Ha... |
OMIM:262000 |
| Pparg-Related Familial Partial Lipodystrophy |
|
Hepatomegaly, Aplasia/Hypoplasia of the skin, Diabetes mellitus, Dysmenorrhea, Maternal diabetes,... |
ORPHA:79083 |
| Ichthyosis, Congenital, Autosomal Recessive 1 |
|
Alopecia, Parakeratosis, Palmoplantar hyperkeratosis, Nail dystrophy, Nail dysplasia, Sparse hair |
OMIM:242300 |
| Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant |
|
Cataract, Sparse eyelashes, Sparse eyebrow, Keratitis, Folliculitis, Conjunctivitis, Blepharitis |
OMIM:612843 |
| Kimura Disease |
|
Eosinophilia, Follicular hyperplasia, Increased circulating IgE level, Lymphadenopathy, Abnormal ... |
ORPHA:482 |
| Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Congenital agranulocytosis, Eosinophilia, Acute monocytic leukemia, Monocytosis, Increased circul... |
OMIM:202700 |
| Myopathy, Scapulohumeroperoneal |
|
Hand muscle atrophy, Skeletal muscle atrophy, Scapular winging, Facial palsy, Centrally nucleated... |
OMIM:616852 |
| Griscelli Syndrome Type 3 |
|
Hypopigmentation of hair, Partial albinism, Iris hypopigmentation |
ORPHA:79478 |
| Peeling Skin Syndrome 4 |
|
Orthokeratosis, Hyperkeratosis, Palmoplantar keratoderma, Nail dystrophy |
OMIM:607936 |
| Congenital Myopathy 1A, Autosomal Dominant, With Susceptibility To Malignant Hyperthermia |
|
Skeletal muscle atrophy, Ankle flexion contracture, Centrally nucleated skeletal muscle fibers, I... |
OMIM:117000 |
| Diamond-Blackfan Anemia 17 |
|
Hyperpigmentation of the skin |
OMIM:617409 |
| Spermatogenic Failure 14 |
|
Abnormal circulating testosterone concentration, Abnormal circulating luteinizing hormone concent... |
OMIM:615842 |
| Ectodermal Dysplasia 12, Hypohidrotic/Hair/Tooth/Nail Type |
|
Subungual hyperkeratosis, Scarring alopecia of scalp, Hypoplastic sweat glands, Nail dystrophy, O... |
OMIM:617337 |
| Epidermolysis Bullosa Simplex 5B, With Muscular Dystrophy |
|
Scarring alopecia of scalp, Palmoplantar hyperkeratosis, Nail dystrophy, Nail dysplasia, Anemia |
OMIM:226670 |
| Tibial Muscular Dystrophy |
|
Peroneal muscle atrophy, Centrally nucleated skeletal muscle fibers, Quadriceps muscle weakness, ... |
ORPHA:609 |
| Trichothiodystrophy 5, Nonphotosensitive |
|
Brittle hair, Slow-growing hair, Cutis marmorata, Progeroid facial appearance, Optic nerve hypopl... |
OMIM:300953 |
| Neuropathy, Hereditary Sensory, Type Id |
|
Nail dystrophy |
OMIM:613708 |
| Mirror Polydactyly-Vertebral Segmentation-Limbs Defects Syndrome |
|
Aplasia of the thymus |
ORPHA:3004 |
| Cervical Hypertrichosis With Underlying Kyphoscoliosis |
|
Anterior cervical hypertrichosis, Sacral hypertrichosis, Lumbar hypertrichosis, Thoracic hypertri... |
OMIM:117850 |
| Poikiloderma With Neutropenia |
|
Skin rash, Elevated circulating creatine kinase concentration, Edema, Sparse eyebrow, Recurrent b... |
OMIM:604173 |
| Trichodental Dysplasia |
|
Sparse hair, Brittle hair, Slow-growing hair, Fine hair |
OMIM:601453 |
| Inclusion Body Myositis |
|
Inflammatory myopathy, Rimmed vacuoles |
OMIM:147421 |
| Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Decreased circulating IgG level, Hepatomegaly, Abnormal B cell count, Abnormal T cell count, Auto... |
ORPHA:331206 |
| Gelatinous Drop-Like Corneal Dystrophy |
|
Subepithelial corneal opacities, Central opacification of the cornea, Blepharospasm, Conjunctival... |
ORPHA:98957 |
| Ectodermal Dysplasia 13, Hair/Tooth Type |
|
Brittle hair, Sparse eyelashes, Low anterior hairline, Ectodermal dysplasia, Thin eyebrow |
OMIM:617392 |
| Angioma, Tufted |
|
Abnormality of skin pigmentation |
OMIM:607859 |
| Junctional Epidermolysis Bullosa Inversa |
|
Anonychia, Nail dystrophy, Anemia, Palmoplantar keratoderma |
ORPHA:79405 |
| Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant |
|
Scapular winging, Centrally nucleated skeletal muscle fibers, Proximal amyotrophy, Myopathy, Musc... |
OMIM:612999 |
| Osteopetrosis, Autosomal Dominant 1 |
|
Thickened cortex of long bones, Generalized osteosclerosis, Calvarial osteosclerosis, Osteopetrosis |
OMIM:607634 |
| Isolated Anencephaly |
|
Thymus hyperplasia, Adrenal hypoplasia, Maternal diabetes |
ORPHA:563609 |
| Pachyonychia Congenita |
|
Alopecia, Paronychia, Onychogryposis of toenails, Linear arrays of macular hyperkeratoses in flex... |
ORPHA:2309 |
| Self-Improving Dystrophic Epidermolysis Bullosa |
|
Abnormality of the subungual region, Abnormality of skin pigmentation, Palmoplantar keratoderma, ... |
ORPHA:79411 |
| Sclerosteosis |
|
Craniofacial hyperostosis, Increased bone mineral density, Abnormal cortical bone morphology |
ORPHA:3152 |
| Palmoplantar Keratoderma And Congenital Alopecia 1 |
|
Alopecia, Brittle hair, Plantar hyperkeratosis, Epidermal hyperkeratosis, Sparse eyebrow, Leukony... |
OMIM:104100 |
| Anterior Segment Dysgenesis 6 |
|
Corneal opacity, Abnormal Descemet membrane morphology, Developmental glaucoma, Posterior synechi... |
OMIM:617315 |
| Hypogonadotropic Hypogonadism 1 With Or Without Anosmia |
|
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Cryptorchi... |
OMIM:308700 |
| Nemaline Myopathy 5B, Autosomal Recessive, Childhood-Onset |
|
Hip contracture, Elbow contracture, Ankle contracture, Limb-girdle muscle weakness, Rhabdomyolysi... |
OMIM:620386 |
| Progeroid Syndrome, Petty Type |
|
Reduced subcutaneous adipose tissue, Low-set, posteriorly rotated ears, Brittle hair, Prematurely... |
ORPHA:2963 |
| Parana Hard Skin Syndrome |
|
Hyperkeratosis, Generalized hyperpigmentation, Generalized hirsutism |
ORPHA:2812 |
| Isolated Congenital Digital Clubbing |
|
Hyperconvex nail, Broad nail, Nail dysplasia, Dystrophic fingernails, Onychogryposis |
ORPHA:217059 |
| Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Hepatomegaly, Autoimmune hemolytic anemia, Eosinophilia, Chronic noninfectious lymphadenopathy, A... |
OMIM:603909 |
| Ectodermal Dysplasia/Short Stature Syndrome |
|
Hyperkeratosis, Anonychia, Nail dystrophy, Palmoplantar keratoderma |
OMIM:616029 |
| Myopathy, Myofibrillar, 5 |
|
Myofibrillar myopathy, Muscle fiber cytoplasmatic inclusion bodies, Muscle fiber splitting |
OMIM:609524 |
| Bart-Pumphrey Syndrome |
|
Leukonychia |
OMIM:149200 |
| Lichen Planus Pemphigoides |
|
Conjunctivitis, Blepharitis |
ORPHA:254478 |
| Distal Myopathy With Anterior Tibial Onset |
|
Absent muscle fiber dysferlin, Tibialis muscle weakness, Limb-girdle muscle weakness, Intrinsic h... |
ORPHA:178400 |
| Familial Partial Lipodystrophy, Dunnigan Type |
|
Hepatomegaly, Aplasia/Hypoplasia of the skin, Diabetes mellitus, Dysmenorrhea, Splenomegaly, Seco... |
ORPHA:2348 |
| Uncombable Hair Syndrome |
|
Abnormal hair morphology, White hair, Coarse hair, Patchy alopecia, Trichodysplasia, Woolly hair |
ORPHA:1410 |
| Huriez Syndrome |
|
Congenital palmoplantar hyperkeratosis, Nail dystrophy, Small nail |
OMIM:181600 |
| Combined Immunodeficiency, X-Linked |
|
Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells |
OMIM:312863 |
| Late-Onset Junctional Epidermolysis Bullosa |
|
Anonychia, Nail dystrophy, Anemia, Palmoplantar keratoderma |
ORPHA:79406 |
| Erythrokeratodermia Variabilis Et Progressiva 7 |
|
Woolly hair, Dystrophic toenail |
OMIM:619209 |
| Cleft Lip/Palate-Ectodermal Dysplasia Syndrome |
|
Brittle hair, Sparse eyelashes, Abnormality of hair texture, Sparse eyebrow, Progressive hypotric... |
OMIM:225060 |
| Lymphoproliferative Syndrome 3 |
|
Decreased circulating antibody level, Lymphadenopathy, Hepatosplenomegaly, Partial absence of spe... |
OMIM:618261 |
| Distal Myopathy, Welander Type |
|
Weakness of long finger extensor muscles, Intrinsic hand muscle atrophy, Myopathy, Distal upper l... |
ORPHA:603 |
| Palmoplantar Keratoderma And Woolly Hair |
|
Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Leukonychia, Palmoplantar keratoderma, Wooll... |
OMIM:616099 |
| Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia |
|
Cervical lymphadenopathy, Decreased circulating total IgM, B lymphocytopenia, Abnormally low T ce... |
OMIM:618987 |
| Lymphoproliferative Syndrome 2 |
|
Hepatomegaly, Lymphoproliferative disorder, Severe varicella zoster infection, Splenomegaly, Recu... |
OMIM:615122 |
| Neutrophilia, Hereditary |
|
Splenomegaly, Neutrophilia, Myelodysplasia |
OMIM:162830 |
| Congenital Disorder Of Glycosylation, Type I/Iix |
|
Abnormality of skin pigmentation |
OMIM:212067 |
| Facioscapulohumeral Muscular Dystrophy 3, Digenic |
|
Weakness of facial musculature, Scapular winging, Shoulder girdle muscle weakness, Angulated musc... |
OMIM:619477 |
| Myopathy, Autophagic Vacuolar, Infantile-Onset |
|
Myopathy, Autophagic vacuoles |
OMIM:609500 |
| Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant |
|
Skeletal muscle atrophy, Muscular dystrophy, Increased variability in muscle fiber diameter, Prox... |
OMIM:614302 |
| T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta |
|
Lymphopenia, Eosinophilia, Hepatitis, Hepatosplenomegaly, Increased circulating antibody level, F... |
ORPHA:169160 |
| Osteochondrosis Of The Metatarsal Bone |
|
Arthritis, Thickened cortex of bones, Sclerosis of foot bone, Joint stiffness |
ORPHA:564003 |
| Trichothiodystrophy 6, Nonphotosensitive |
|
Brittle hair, Slow-growing hair, Bilateral sensorineural hearing impairment, Tiger tail banding, ... |
OMIM:616943 |
| Immunodeficiency 32B |
|
Hepatomegaly, Neutrophilia, Eosinophilia, Splenomegaly, Anemia, Impaired oxidative burst, Abnorma... |
OMIM:226990 |
| Cernunnos-Xlf Deficiency |
|
Anemia, T lymphocytopenia, B lymphocytopenia, Lymphopenia, Thrombocytopenia |
ORPHA:169079 |
| Pachyonychia Congenita 2 |
|
Sparse scalp hair, Dry hair, Subungual hyperkeratosis, Sparse eyebrow, Palmoplantar hyperkeratosi... |
OMIM:167210 |
| Ectodermal Dysplasia-Sensorineural Deafness Syndrome |
|
Brittle hair, Sensorineural hearing impairment, Coarse hair, Sparse hair, Hidrotic ectodermal dys... |
ORPHA:1883 |
| Nemaline Myopathy 6 |
|
Skeletal muscle atrophy, Limb muscle weakness, Nemaline bodies, Myopathy |
OMIM:609273 |
| Body Mass Index Quantitative Trait Locus 20 |
|
Increased bone mineral density |
OMIM:618406 |
| Myofibrillar Myopathy 11 |
|
Centrally nucleated skeletal muscle fibers, Z-band streaming, Calf muscle hypertrophy, Muscle fib... |
OMIM:619178 |
| Waardenburg Syndrome, Type 2F |
|
Hypermelanotic macule, White hair, Blue irides, Premature graying of hair, White forelock, Cafe-a... |
OMIM:619947 |
| Trichodentoosseous Syndrome |
|
Increased bone mineral density |
OMIM:190320 |
| Immunodeficiency 7 |
|
Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Hypereosinophilia, Lymphadenopathy, Patc... |
OMIM:615387 |
| Trichothiodystrophy 7, Nonphotosensitive |
|
Tiger tail banding, Brittle hair |
OMIM:618546 |
| Alpha-B Crystallin-Related Late-Onset Myopathy |
|
Muscle fiber inclusion bodies, Autophagic vacuoles, Limb-girdle muscle weakness, Accumulation of ... |
ORPHA:399058 |
| Lelis Syndrome |
|
Yellow nails, Perioral hyperpigmentation, Absent lower eyelashes, Palmoplantar hyperkeratosis, Na... |
ORPHA:140936 |
| Omenn Syndrome |
|
Hepatomegaly, Failure to thrive, Alopecia, Eosinophilia, Splenomegaly, Leukocytosis, Lymphoma, Th... |
ORPHA:39041 |
| Uncombable Hair Syndrome 2 |
|
Uncombable hair, Pili canaliculi |
OMIM:617251 |
| Marie Unna Hereditary Hypotrichosis |
|
Sparse scalp hair, Alopecia, Sparse or absent eyelashes, Coarse hair, Aplasia/Hypoplasia of the e... |
ORPHA:444 |
| Acute Myelomonocytic Leukemia |
|
Eosinophilia, Leukocytosis, Weight loss, Anemia, Thrombocytopenia |
ORPHA:517 |
| Myeloproliferative Disorder, Chronic, With Eosinophilia |
|
Malignant eosinophil proliferation, Eosinophilia, Myeloproliferative disorder |
OMIM:131440 |
| Ifap Syndrome 2 |
|
Cataract, Angular cheilitis, Keratitis, Posterior blepharitis, Keratoconjunctivitis sicca |
OMIM:619016 |
| Osteopetrosis, Autosomal Recessive 6 |
|
Osteopetrosis |
OMIM:611497 |
| Myopathy, Tubular Aggregate, 1 |
|
Flexion contracture, Type 2 muscle fiber atrophy, Proximal amyotrophy, Myopathy, Type 1 muscle fi... |
OMIM:160565 |
| Hepatic Venoocclusive Disease With Immunodeficiency |
|
Decreased circulating IgG level, Absence of lymph node germinal center |
OMIM:235550 |
| Mantle Cell Lymphoma |
|
Splenomegaly, Weight loss, B-cell lymphoma, Lymphadenopathy |
ORPHA:52416 |
| Caspase 8 Deficiency |
|
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... |
OMIM:607271 |
| Olmsted Syndrome, X-Linked |
|
Posterior blepharitis, Blepharitis |
OMIM:300918 |
| Immunodeficiency 50 |
|
Decreased circulating antibody level, Lymphopenia, Neutropenia |
OMIM:300988 |
| Melorheostosis |
|
Increased bone mineral density, Joint stiffness, Hyperostosis, Arthritis, Ectopic ossification in... |
ORPHA:2485 |
| Congenital Myopathy 18 |
|
Fatty replacement of skeletal muscle, Increased variability in muscle fiber diameter, Increased e... |
OMIM:620246 |
| Cerebellar Dysfunction, Impaired Intellectual Development, And Hypogonadotropic Hypogonadism |
|
Hypogonadotropic hypogonadism, Cryptorchidism, Decreased circulating luteinizing hormone level, D... |
OMIM:619761 |
| Immunodeficiency 64 With Lymphoproliferation |
|
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos... |
OMIM:618534 |
| Endosteal Hyperostosis, Autosomal Dominant |
|
Hyperostosis, Metacarpal diaphyseal endosteal sclerosis, Clavicular sclerosis, Thickened cortex o... |
OMIM:144750 |
| Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome |
|
Increased bone mineral density, Craniosynostosis |
ORPHA:178377 |
| Cardiomyopathy, Dilated, 1X |
|
Calf muscle hypertrophy, Increased variability in muscle fiber diameter |
OMIM:611615 |
| Myopathy, X-Linked, With Postural Muscle Atrophy |
|
Skeletal muscle atrophy, Scapular winging, Achilles tendon contracture, Hamstring contractures, S... |
OMIM:300696 |
| Ghosal Hematodiaphyseal Dysplasia |
|
Craniofacial hyperostosis, Abnormal cortical bone morphology |
ORPHA:1802 |
| Immunodeficiency 48 |
|
Absence of CD8-positive T cells, Splenomegaly |
OMIM:269840 |
| T-Cell Immunodeficiency With Thymic Aplasia |
|
Decreased proportion of naive T cells, Aplasia of the thymus, Hypothyroidism, Atypical or prolong... |
ORPHA:83471 |
| Trichothiodystrophy 4, Nonphotosensitive |
|
Brittle hair, Sparse eyelashes, Abnormality of hair texture, Concave nail, Optic atrophy, Decreas... |
OMIM:234050 |
| Chondroectodermal Dysplasia With Night Blindness |
|
Onychauxis, Abnormal hair morphology, Hyperconvex toenail, Hyperconvex fingernails, Nail dystroph... |
ORPHA:319195 |
| Immunodeficiency 52 |
|
Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Increase... |
OMIM:617514 |
| Bathing Suit Ichthyosis |
|
Alopecia, Parakeratosis, Palmoplantar hyperkeratosis, Nail dystrophy, Sparse hair |
ORPHA:100976 |
| Myasthenic Syndrome, Congenital, 2A, Slow-Channel |
|
Skeletal muscle atrophy, Facial palsy, Flexion contracture, Knee flexion contracture, Myopathy, T... |
OMIM:616313 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27 |
|
Skeletal muscle atrophy, Proximal muscle weakness in upper limbs, Shoulder flexion contracture, A... |
OMIM:619566 |
| B-Cell Expansion With Nfkb And T-Cell Anergy |
|
Splenomegaly, Increased B cell count |
OMIM:616452 |
| Combined Immunodeficiency Due To Zap70 Deficiency |
|
Autoimmune hemolytic anemia, Lymphoproliferative disorder, Eosinophilia, Autoimmune thrombocytope... |
ORPHA:911 |
| Distal Myopathy, Tateyama Type |
|
Calf muscle pseudohypertrophy, Increased variability in muscle fiber diameter, Intrinsic hand mus... |
ORPHA:488650 |
| Hypotrichosis With Juvenile Macular Degeneration |
|
Sparse scalp hair, Brittle hair, Pili torti, Fine hair |
ORPHA:1573 |
| Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia |
|
Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Mediasti... |
OMIM:300853 |
| Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis |
|
Psoriasiform dermatitis, Blepharitis, Developmental cataract |
OMIM:616834 |
| Spermatogenic Failure 77 |
|
Abnormal circulating testosterone concentration, Cryptorchidism, Elevated circulating follicle st... |
OMIM:620103 |
| Immunodeficiency 72 With Autoinflammation And Lymphoproliferation |
|
Increased proportion of memory T cells, Hepatosplenomegaly, Increased B cell count, Lymphadenopathy |
OMIM:618982 |
| Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type |
|
Increased bone mineral density, Abnormal cortical bone morphology |
ORPHA:2204 |
| Caffey Disease |
|
Cortical irregularity, Periosteal thickening of long tubular bones, Subperiosteal bone formation,... |
OMIM:114000 |
| Sézary Syndrome |
|
Alopecia, Splenomegaly, Lymphadenopathy, Palmoplantar keratoderma, Nail dystrophy, Irregular hype... |
ORPHA:3162 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2Cc |
|
Ragged-red muscle fibers, Lower limb amyotrophy, Upper limb amyotrophy, Upper limb muscle weaknes... |
OMIM:616924 |
| Localized Junctional Epidermolysis Bullosa |
|
Sparse axillary hair, Sparse pubic hair, Scarring alopecia of scalp, Atrophic, patchy alopecia, N... |
ORPHA:251393 |
| Localized Dystrophic Epidermolysis Bullosa, Pretibial Form |
|
Abnormal fingernail morphology, Hyperkeratotic papule, Palmoplantar keratoderma, Nail dystrophy, ... |
ORPHA:79410 |
| Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma |
|
Alopecia, Hypermelanotic macule, Multinodular goiter, Palmoplantar keratoderma, Hypomelanotic mac... |
OMIM:618373 |
| Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset |
|
Increased variability in muscle fiber diameter, Flexion contracture, Muscle fiber intracytoplasmi... |
OMIM:300717 |
| Pili Torti-Developmental Delay-Neurological Abnormalities Syndrome |
|
Sparse or absent eyelashes, Pili torti, Aplasia/Hypoplasia of the eyebrow, Abnormality of hair te... |
ORPHA:2891 |
| Hypogonadotropic Hypogonadism 19 With Or Without Anosmia |
|
Osteopenia, Osteoporosis |
OMIM:615269 |
| Immunodeficiency 13 |
|
Lymphopenia, T lymphocytopenia, B lymphocytopenia, Decreased proportion of CD4-positive helper T ... |
OMIM:615518 |
| Isolated Osteopoikilosis |
|
Abnormally ossified vertebrae, Increased bone mineral density, Sclerosis of foot bone, Sclerotic ... |
ORPHA:166119 |
| Severe Combined Immunodeficiency, X-Linked |
|
Impaired lymphocyte transformation with phytohemagglutinin, Hepatomegaly, Failure to thrive, Redu... |
OMIM:300400 |
| Ermine Phenotype |
|
White eyelashes, White eyebrow, Albinism, White hair, Spotty hyperpigmentation, Vitiligo |
OMIM:227010 |
| Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma |
|
Alopecia, Sparse eyelashes, Acantholysis, Sparse eyebrow, Palmoplantar hyperkeratosis, Palmoplant... |
OMIM:605676 |
| Xeroderma Pigmentosum, Complementation Group D |
|
Entropion, Cataract, Keratitis, Telangiectasia, Keratoconjunctivitis sicca, Conjunctivitis, Corne... |
OMIM:278730 |
| Alpha-Heavy Chain Disease |
|
Hepatomegaly, Alopecia, Dysgammaglobulinemia, Splenomegaly, Lymphoma, Hypocalcemia, Ascites |
ORPHA:100025 |
| Flynn-Aird Syndrome |
|
Increased bone mineral density, Osteoporosis, Increased bone density with cystic changes, Joint s... |
OMIM:136300 |
| Miyoshi Muscular Dystrophy 1 |
|
Distal amyotrophy, Lower limb muscle weakness, Muscular dystrophy, Deposits immunoreactive to bet... |
OMIM:254130 |
| Split-Hand/Foot Malformation 3 |
|
Ridged nail, Nail dystrophy, Nail dysplasia |
OMIM:246560 |
| Oculopharyngeal Muscular Dystrophy |
|
Myopathy, Rimmed vacuoles, Ragged-red muscle fibers, Abnormal muscle fiber morphology |
ORPHA:270 |
| Myasthenic Syndrome, Congenital, 14 |
|
Scapular winging, Centrally nucleated skeletal muscle fibers, Limb-girdle muscle weakness, Ragged... |
OMIM:616228 |
| Naegeli-Franceschetti-Jadassohn Syndrome |
|
Subungual hyperkeratosis, Hyperpigmentation in sun-exposed areas, Reticulated skin pigmentation, ... |
ORPHA:69087 |
| Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Alopecia, Eosinophilia, Autoimmune thrombocytopenia, Increased circulating IgE level, Hepatitis, ... |
OMIM:304790 |
| Immunodeficiency 8 With Lymphoproliferation |
|
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... |
OMIM:615401 |
| Ichthyosis, Congenital, Autosomal Recessive 11 |
|
Sparse eyelashes, Corneal opacity, Curly eyelashes, Sparse eyebrow, Blepharitis |
OMIM:602400 |
| Wiskott-Aldrich Syndrome 2 |
|
Decreased proportion of CD8-positive T cells, Thrombocytopenia |
OMIM:614493 |
| Autoimmune Lymphoproliferative Syndrome |
|
Hepatocellular carcinoma, Increased circulating IgG level, Thyroid carcinoma, Lymphocytosis, Incr... |
ORPHA:3261 |
| Peeling Skin Syndrome 1 |
|
Brittle hair, Eosinophilia, Onycholysis, Scaling skin, Nail dystrophy |
OMIM:270300 |
| Transgrediens Et Progrediens Palmoplantar Keratoderma |
|
Plantar hyperkeratosis, Hyperconvex nail, Diffuse palmoplantar hyperkeratosis, Nonepidermolytic p... |
ORPHA:495 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5 |
|
Skeletal muscle atrophy, Calf muscle pseudohypertrophy, Flexion contracture, Muscle fiber necrosi... |
OMIM:253700 |
| Heimler Syndrome 1 |
|
Beau's lines, Leukonychia |
OMIM:234580 |
| Knuckle Pads-Leukonychia-Sensorineural Deafness-Palmoplantar Hyperkeratosis Syndrome |
|
Hyperkeratotic papule, Palmoplantar keratoderma, Leukonychia, Palmoplantar hyperkeratosis |
ORPHA:2698 |
| Hypertrichosis Lanuginosa Congenita |
|
Abnormality of skin pigmentation, Generalized hirsutism, Thick eyebrow |
ORPHA:2222 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2 |
|
Scapular winging, Autophagic vacuoles, Centrally nucleated skeletal muscle fibers, EMG: myopathic... |
OMIM:608423 |
| Eosinophilia, Familial |
|
Anemia, Leukocytosis, Eosinophilia, Thrombocytopenia |
OMIM:131400 |
| Immunodeficiency 42 |
|
Splenomegaly, Hypoplasia of the thymus |
OMIM:616622 |
| Bullous Dystrophy, Hereditary Macular Type |
|
Hyperpigmentation of the skin, Alopecia totalis, Abnormality of the nail |
OMIM:302000 |
| Desmoplastic Small Round Cell Tumor |
|
Neoplasm of the pancreas, Hepatomegaly, Abnormal peritoneum morphology, Testicular neoplasm, Cach... |
ORPHA:83469 |
| Hyperpigmentation With Or Without Hypopigmentation, Familial Progressive |
|
