| Localized Dystrophic Epidermolysis Bullosa, Nails Only |
|
Onychogryposis of fingernail, Dystrophic toenail, Onychogryposis of toenails, Fragile nails, Abse... |
ORPHA:158676 |
| Cystic Angiomatosis Of Bone, Diffuse |
|
Cystic angiomatosis of bone |
OMIM:123880 |
| Epidermolysis Bullosa Simplex 2C, Localized |
|
Onychomadesis, Dystrophic toenail |
OMIM:619594 |
| Pili Gemini |
|
Hair shafts flattened at irregular intervals and twisted through 180 degrees about their axes, Ab... |
ORPHA:79492 |
| Mammary-Digital-Nail Syndrome |
|
Nail dysplasia, Anonychia, Nail dystrophy |
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 |
|
Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Delayed puberty, Decre... |
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 |
|
Dystrophic fingernails, Absent toenail, Sparse scalp hair |
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 dysplasia, Nail dystrophy |
OMIM:604129 |
| Nail Disorder, Nonsyndromic Congenital, 6 |
|
Nail dysplasia, Anonychia, Nail dystrophy |
OMIM:107000 |
| 12q14 microdeletion syndrome |
|
Osteopoikilosis |
DECIPHER:76 |
| Pachyonychia Congenita 4 |
|
Nail dystrophy |
OMIM:615728 |
| Hypogonadotropic Hypogonadism 27 Without Anosmia |
|
Reduced response to gonadotropin-releasing hormone stimulation test, Absence of pubertal developm... |
OMIM:619755 |
| Epidermolysis Bullosa Dystrophica, Autosomal Dominant |
|
Nail dysplasia, Nail dystrophy |
OMIM:131750 |
| Pyknoachondrogenesis |
|
Increased bone mineral density |
OMIM:265880 |
| Ectodermal Dysplasia 6, Hair/Nail Type |
|
Alopecia, Sparse hair, Thin toenail, Dystrophic toenail |
OMIM:614928 |
| Adrenal Hypoplasia, Congenital, With Absent Pituitary Luteinizing Hormone |
|
Decreased circulating luteinizing hormone level, Cryptorchidism, Congenital adrenal hypoplasia |
OMIM:202150 |
| Epidermolysis Bullosa Dystrophica Neurotrophica |
|
Nail dysplasia, Nail dystrophy |
OMIM:226500 |
| Osteomesopyknosis |
|
Increased bone mineral density |
OMIM:166450 |
| Epidermolysis Bullosa Simplex 2F, With Mottled Pigmentation |
|
Hypoplastic fifth toenail, Nail dysplasia, Nail dystrophy, Onychogryposis |
OMIM:131960 |
| Hidrotic Ectodermal Dysplasia, Christianson-Fourie Type |
|
Sparse pubic hair, Abnormal hair morphology, Onychogryposis of toenails, Nail dystrophy, Sparse e... |
ORPHA:1808 |
| Transient Bullous Dermolysis Of The Newborn |
|
Nail dystrophy |
OMIM:131705 |
| Angioma Serpiginosum, X-Linked |
|
Sparse hair, Nail dystrophy, Fine hair |
OMIM:300652 |
| Epidermolysis Bullosa Simplex 1B, Generalized Intermediate |
|
Nail dystrophy |
OMIM:131900 |
| Melorheostosis, Isolated |
|
Increased bone mineral density, Hyperostosis |
OMIM:155950 |
| T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy |
|
Alopecia, Nail pits, Ridged nail, Nail dystrophy |
OMIM:601705 |
| Hypotrichosis 15 |
|
Sparse scalp hair |
OMIM:620177 |
| Spinal Muscular Atrophy, Scapuloperoneal |
|
Peroneal muscle atrophy, Scapular muscle atrophy, Spinal muscular atrophy |
OMIM:271220 |
| Myopathy, Distal, With Rimmed Vacuoles |
|
Rimmed vacuoles, Increased variability in muscle fiber diameter, Skeletal muscle atrophy, Z-band ... |
OMIM:617158 |
| Epidermolysis Bullosa Simplex 5D, Generalized Intermediate, Autosomal Recessive |
|
Alopecia, Nail dystrophy |
OMIM:616487 |
| Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant |
|
Rimmed vacuoles, Increased variability in muscle fiber diameter, Distal amyotrophy, Z-band stream... |
OMIM:618655 |
| Melorheostosis With Osteopoikilosis |
|
Osteopoikilosis, Abnormal cortical bone morphology |
ORPHA:1879 |
| Osteopoikilosis And Dacryocystitis |
|
Osteopoikilosis |
OMIM:166705 |
| Epidermolysis Bullosa, Junctional 4, Intermediate |
|
Dystrophic fingernails, Scarring alopecia of scalp, Nail dystrophy |
OMIM:619787 |
| Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Lymphopenia, Hypoplasia of the thymus |
OMIM:200900 |
| Ichthyosis Hystrix Of Curth-Macklin |
|
Diffuse palmoplantar hyperkeratosis, Hyperkeratosis, Nail dystrophy |
ORPHA:79503 |
| Hypogonadotropic Hypogonadism 13 With Or Without Anosmia |
|
Decreased serum estradiol, Hypogonadotropic hypogonadism, Decreased circulating follicle stimulat... |
OMIM:614842 |
| Hypogonadotropic Hypogonadism 10 With Or Without Anosmia |
|
Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Decreased circulating ... |
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 |
|
Palmoplantar hyperkeratosis, Nail dystrophy |
OMIM:131760 |
| Okt4 Epitope Deficiency |
|
Abnormal T cell morphology |
OMIM:613949 |
| Epidermolysis Bullosa Simplex With Mottled Pigmentation |
|
Hyperkeratotic papule, Alopecia, Mottled pigmentation, Hypermelanotic macule, Nail dystrophy, Hyp... |
ORPHA:79397 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 26 |
|
Increased variability in muscle fiber diameter, Proximal muscle weakness in lower limbs, Fatty re... |
OMIM:618848 |
| Ciliary Discoordination Due To Random Ciliary Orientation |
|
Recurrent infections |
OMIM:215518 |
| Epidermolysis Bullosa, Junctional 5A, Intermediate |
|
Alopecia of scalp, Nail dystrophy, Onychogryposis, Absent pubic hair, Absent axillary hair, Onych... |
OMIM:619816 |
| Epidermolysis Bullosa Dystrophica, Pretibial |
|
Hyperkeratosis, Nail dystrophy |
OMIM:131850 |
| Familial Isolated Café-Au-Lait Macules |
|
Multiple cafe-au-lait spots, Freckling |
ORPHA:2678 |
| Hidrotic Ectodermal Dysplasia |
|
Small nail, Sparse eyelashes, Absent eyebrow, Absent axillary hair, Sparse hair, Alopecia, Sparse... |
ORPHA:189 |
| Alopecia Areata 2 |
|
Alopecia universalis, Patchy alopecia, Alopecia of scalp, Alopecia totalis |
OMIM:610753 |
| Pituitary Hormone Deficiency, Combined, 2 |
|
Abnormal circulating adrenocorticotropin concentration, Hypogonadism, Panhypopituitarism, Adrenal... |
OMIM:262600 |
| Hypogonadotropic Hypogonadism 22 With Or Without Anosmia |
|
Decreased serum estradiol, Hypogonadism, Reduced response to gonadotropin-releasing hormone stimu... |
OMIM:616030 |
| Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Intermediate Form |
|
Spotty hyperpigmentation, Nail dystrophy, Mixed hypo- and hyperpigmentation of the skin, Hypomela... |
ORPHA:79399 |
| Osteomesopyknosis |
|
Increased bone mineral density, Abnormal cortical bone morphology |
ORPHA:2777 |
| Alopecia-Intellectual Disability Syndrome 1 |
|
Alopecia universalis, Alopecia |
OMIM:203650 |
| Alopecia, Familial Focal |
|
Patchy alopecia |
OMIM:104110 |
| Hypertrichosis Lanuginosa Congenita |
|
Congenital, generalized hypertrichosis, Double eyebrow |
OMIM:145700 |
| Alopecia-Intellectual Disability Syndrome 2 |
|
Alopecia universalis |
OMIM:610422 |
| Alopecia-Intellectual Disability Syndrome 3 |
|
Alopecia universalis |
OMIM:613930 |
| Alopecia, Androgenetic, 1 |
|
Alopecia |
OMIM:109200 |
| Polyglucosan Body Myopathy 2 |
|
Muscle fiber inclusion bodies, Hand muscle weakness, Shoulder girdle muscle weakness, Muscle fibe... |
OMIM:616199 |
| Autosomal Dominant Generalized Dystrophic Epidermolysis Bullosa |
|
Dystrophic toenail, Absent toenail, Nail dystrophy, Dystrophic fingernails, Recurrent loss of toe... |
ORPHA:231568 |
| Erythrokeratodermia Variabilis Et Progressiva 5 |
|
Abnormal hair morphology, Palmoplantar hyperkeratosis, Hyperkeratosis, Onychogryposis |
OMIM:617756 |
| Reticular Dysgenesis |
|
Lymphopenia, Leukopenia, Congenital agranulocytosis, Hypoplasia of the thymus |
OMIM:267500 |
| Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome |
|
Increased bone mineral density |
ORPHA:75325 |
| Epidermolysis Bullosa Simplex 6, Generalized Intermediate, With Or Without Cardiomyopathy |
|
Alopecia, Hypopigmentation of the skin, Dystrophic toenail, Sparse body hair, Onychogryposis of t... |
OMIM:617294 |
| Inflammatory Poikiloderma With Hair Abnormalities And Acral Keratoses |
|
Mottled pigmentation, Sparse eyebrow, Sparse eyelashes, Absent eyebrow, Sparse scalp hair |
OMIM:620199 |
| Spinal Muscular Atrophy, Lower Extremity-Predominant, 1, Autosomal Dominant |
|
Proximal muscle weakness in lower limbs, Type 2 muscle fiber predominance, Proximal lower limb am... |
OMIM:158600 |
| Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Abnormally low T cell receptor excision circle level, Failure to thrive, Panhypogammaglobulinemia... |
OMIM:602450 |
| Palmoplantar Keratoderma And Congenital Alopecia 2 |
|
Alopecia totalis, Nail dystrophy, Nail dysplasia, Palmoplantar hyperkeratosis, Hyperkeratosis |
OMIM:212360 |
| Diabetes, Deafness, Developmental Delay, And Short Stature Syndrome |
|
Hypopituitarism, Type II diabetes mellitus, Reduced circulating growth hormone concentration, Dec... |
OMIM:620651 |
| Hypotrichosis Simplex |
|
Alopecia, Sparse eyebrow, Sparse body hair, Sparse eyelashes, Sparse hair, Sparse scalp hair |
ORPHA:55654 |
| Rothmund-Thomson Syndrome, Type 1 |
|
Nail dystrophy, Absent eyelashes, Absent eyebrow, Thin nail, Sparse hair, Hyperkeratosis, Cafe-au... |
OMIM:618625 |
| Hypotrichosis 1 |
|
Sparse pubic hair, Sparse eyebrow, Sparse body hair, Sparse eyelashes, Sparse axillary hair, Spar... |
OMIM:605389 |
| Hypertrichosis, Anterior Cervical |
|
Anterior cervical hypertrichosis |
OMIM:600457 |
| Hypertrichosis Universalis Congenita, Ambras Type |
|
Congenital, generalized hypertrichosis |
OMIM:145701 |
| Hypotrichosis 11 |
|
Alopecia universalis, Aplasia/Hypoplasia of the eyebrow, Sparse or absent eyelashes, Absent axill... |
OMIM:615059 |
| Immunodeficiency 24 |
|
Decreased proportion of memory B cells, Reduced proportion of mucosal-associated invariant T cell... |
OMIM:615897 |
| Atrichia With Papular Lesions |
|
Sparse hair |
OMIM:209500 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7 |
|
Rimmed vacuoles, Increased variability in muscle fiber diameter, Muscular dystrophy, Proximal mus... |
OMIM:601954 |
| Autosomal Recessive Generalized Epidermolysis Bullosa Simplex |
|
Hypopigmentation of the skin, Dystrophic toenail, Abnormal fingernail morphology, Ridged nail, Ab... |
ORPHA:89838 |
| Ringed Hair Disease |
|
Abnormal hair pattern, Fine hair |
ORPHA:169 |
| Alopecia Universalis Congenita |
|
Alopecia universalis, Absent eyelashes, Absent eyebrow, Absent pubic hair, Absent axillary hair |
OMIM:203655 |
| Monilethrix |
|
Alopecia, Nail dystrophy, Nail dysplasia, Brittle hair, Abnormality of hair texture, Sparse hair,... |
OMIM:158000 |
| Hyperostosis Corticalis Generalisata |
|
Generalized osteosclerosis, Abnormal cortical bone morphology, Cranial hyperostosis |
ORPHA:3416 |
| Hypotrichosis 4 |
|
Alopecia, Sparse eyebrow, Sparse body hair, Sparse eyelashes, Uncombable hair, Sparse scalp 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 |
|
Increased bone mineral density, Ectopic ossification |
OMIM:602475 |
| Nail Disorder, Nonsyndromic Congenital, 3 |
|
Abnormal hair morphology, Leukonychia, Concave nail |
OMIM:151600 |
| Isolated Congenital Digital Clubbing |
|
Dystrophic fingernails, Nail dysplasia, Broad nail, Hyperconvex nail, Onychogryposis |
ORPHA:217059 |
| Pili Bifurcati |
|
Abnormal hair morphology, Abnormality of hair texture |
ORPHA:720 |
| Immunodeficiency, partial combined, with absence of hla determinantsand beta-2-microglobulin from lymphocytes |
|
T lymphocytopenia |
OMIM:242870 |
| Intermediate Generalized Junctional Epidermolysis Bullosa |
|
Palmoplantar keratoderma, Sparse body hair, Nail dystrophy, Scarring alopecia of scalp, Anonychia... |
ORPHA:79402 |
| Schopf-Schulz-Passarge Syndrome |
|
Palmoplantar keratoderma, Small nail, Poroma, Sparse body hair, Apocrine hidrocystoma, Ridged nai... |
OMIM:224750 |
| Gne Myopathy |
|
Rimmed vacuoles, Increased variability in muscle fiber diameter, Shoulder girdle muscle atrophy, ... |
ORPHA:602 |
| Buschke-Ollendorff Syndrome |
|
Joint stiffness, Flexion contracture, Osteopoikilosis |
OMIM:166700 |
| Crandall Syndrome |
|
Alopecia, Fine hair, Sparse body hair, Hypogonadism, Brittle hair, Sensorineural hearing impairme... |
ORPHA:202 |
| Myopathy, Distal, 5 |
|
Rimmed vacuoles, Distal amyotrophy, Myopathy, Weakness of facial musculature, Distal lower limb m... |
OMIM:617030 |
| Trichodysplasia-Xeroderma Syndrome |
|
Alopecia, Coarse hair, Sparse eyebrow, Sparse body hair, Trichorrhexis nodosa, Dry skin, Trichody... |
ORPHA:3361 |
| Nonaka Myopathy |
|
Rimmed vacuoles, Deposits immunoreactive to beta-amyloid protein, Distal amyotrophy, Distal lower... |
OMIM:605820 |
| Hyperthyroxinemia, Familial Dysalbuminemic |
|
Abnormal thyroid-stimulating hormone level, Increased circulating free T4 concentration, Euthyroi... |
OMIM:615999 |
| Dowling-Degos Disease 3 |
|
Hyperpigmented/hypopigmented macules, Reticulated skin pigmentation |
OMIM:615674 |
| Dacryocystitis-Osteopoikilosis Syndrome |
|
Increased bone mineral density, Osteopoikilosis |
ORPHA:1562 |
| Myopathy, Sarcoplasmic Body |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Proxi... |
OMIM:620286 |
| Amyotonia Congenita |
|
Skeletal muscle atrophy |
OMIM:205000 |
| Idiopathic Trachyonychia |
|
Toenail dysplasia, Fingernail dysplasia, Ridged nail, Vitiligo, Nail dystrophy, Patchy alopecia, ... |
ORPHA:79153 |
| Hypotrichosis 10 |
|
Sparse eyebrow, Sparse body hair, Sparse eyelashes, Abnormality of the nail, Sparse scalp hair |
OMIM:614238 |
| Keratosis Linearis With Ichthyosis Congenita And Sclerosing Keratoderma |
|
Honeycomb palmoplantar hyperkeratosis, Nail dystrophy, Linear arrays of macular hyperkeratoses in... |
OMIM:601952 |
| Epidermolysis Bullosa, Junctional 1A, Intermediate |
|
Plantar hyperkeratosis, Patchy alopecia, Nail dystrophy, Fragile nails |
OMIM:226650 |
| 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 |
| Odontoonychodermal Dysplasia |
|
Sparse eyebrow, Dry hair, Short nail, Dystrophic toenail, Fine hair, Sparse body hair, Orthokerat... |
OMIM:257980 |
| Tietz Syndrome |
|
Hypopigmentation of hair, Hypopigmentation of the skin, White eyebrow, Abnormality of skin pigmen... |
ORPHA:42665 |
| Tubular Aggregate Myopathy |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscl... |
ORPHA:2593 |
| Inclusion Body Myositis |
|
Rimmed vacuoles, Skeletal muscle atrophy, Quadriceps muscle weakness, Inflammatory myopathy, Ragg... |
ORPHA:611 |
| Ichthyosis-Hypotrichosis Syndrome |
|
Sparse hair |
ORPHA:91132 |
| Pituitary Hormone Deficiency, Combined Or Isolated, 8 |
|
Ectopic posterior pituitary, Anterior pituitary agenesis, Absent pituitary stalk, Interrupted pit... |
OMIM:620303 |
| Sabinas Brittle Hair Syndrome |
|
Dry hair, Nail dystrophy, Nail dysplasia, Brittle hair, Sparse hair |
OMIM:211390 |
| Ectodermal Dysplasia 4, Hair/Nail Type |
|
Abnormal sweat gland morphology, Alopecia, Sparse body hair, Congenital onychodystrophy, Nail dys... |
OMIM:602032 |
| T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Abnormally low T cell receptor excision circle level, Decreased circulating IgG level, Reduced na... |
ORPHA:276 |
| Atopic Keratoconjunctivitis |
|
Keratitis, Allergic conjunctivitis, Corneal scarring, Corneal neovascularization, Chemosis, Conju... |
ORPHA:163934 |
| Pituitary Hormone Deficiency, Combined, 6 |
|
Ectopic posterior pituitary, Decreased circulating ACTH concentration, Posterior pituitary hypopl... |
OMIM:613986 |
| Hypogonadotropic Hypogonadism 16 With Or Without Anosmia |
|
Decreased serum estradiol, Hypogonadism, Decreased serum testosterone concentration, Decreased te... |
OMIM:614897 |
| Cooks Syndrome |
|
Dystrophic fingernails, Aplastic/hypoplastic toenail, Dystrophic toenail, Abnormal toenail morpho... |
ORPHA:1487 |
| Ectodermal Dysplasia 9, Hair/Nail Type |
|
Abnormal sweat gland morphology, Atrichia, Abnormal sebaceous gland morphology, Absent hair, Nail... |
OMIM:614931 |
| Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
|
Cutaneous anergy, Pancytopenia, Hypersplenism, Splenomegaly, Decreased helper T cell proportion |
OMIM:183350 |
| Spinal Muscular Atrophy, Type Iv |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Rimme... |
OMIM:271150 |
| Hereditary Myopathy With Early Respiratory Failure |
|
Rimmed vacuoles, Increased variability in muscle fiber diameter, Necrotizing myopathy, Skeletal m... |
ORPHA:178464 |
| Insulin-Resistance Syndrome Type A |
|
Generalized hirsutism, Generalized hyperpigmentation, Hyperkeratosis |
ORPHA:2297 |
| Leukomelanoderma, Infantilism, Impaired Intellectual Development, Hypodontia, Hypotrichosis |
|
Sparse hair |
OMIM:246500 |
| Palmoplantar Keratoderma I, Striate, Focal, Or Diffuse |
|
Yellow nails, Palmoplantar keratoderma, Nail dystrophy, Orthokeratotic hyperkeratosis, Onycholysi... |
OMIM:148700 |
| Welander Distal Myopathy |
|
Rimmed vacuoles, Distal amyotrophy |
OMIM:604454 |
| Spermatogenic Failure 15 |
|
Abnormal circulating luteinizing hormone concentration, Abnormal circulating testosterone concent... |
OMIM:616950 |
| Candidiasis, Familial, 8 |
|
Onychomycosis, Seborrheic dermatitis, Cheilitis, Blepharitis, Chronic oral candidiasis |
OMIM:615527 |
| Psoriasis 15, Pustular, Susceptibility To |
|
Nail dystrophy |
OMIM:616106 |
| Dentin Dysplasia With Sclerotic Bones |
|
Cortical sclerosis |
OMIM:125440 |
| Vernal Keratoconjunctivitis |
|
Keratoconus, Abnormal cornea morphology, Allergic conjunctivitis, Corneal neovascularization, Con... |
ORPHA:70476 |
| Anonychia With Flexural Pigmentation |
|
Axillary and groin hyperpigmentation and hypopigmentation, Abnormal hair morphology, Alopecia of ... |
ORPHA:69125 |
| Van Buchem Disease |
|
Thickened cortex of long bones, Increased bone mineral density, Cranial hyperostosis |
OMIM:239100 |
| Alopecia Areata 1 |
|
Alopecia universalis, Alopecia totalis, Patchy alopecia, Trachyonychia, Nail pits |
OMIM:104000 |
| Congenital Smooth Muscle Hamartoma, With Or Without Hemihypertrophy |
|
Hypertrichosis |
OMIM:620470 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3 |
|
Rimmed vacuoles, Limb-girdle muscular dystrophy, Shoulder girdle muscle weakness, Myopathy, Flexi... |
OMIM:609115 |
| Oculopharyngodistal Myopathy 2 |
|
Rimmed vacuoles, Increased variability in muscle fiber diameter, Increased endomysial connective ... |
OMIM:618940 |
| Porokeratosis 3, Multiple Types |
|
Nail dystrophy |
OMIM:175900 |
| Localized Epidermolysis Bullosa Simplex |
|
Plantar hyperkeratosis, Focal friction-related palmoplantar hyperkeratosis, Nail dystrophy, Palma... |
ORPHA:79400 |
| Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 3 |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Limb-... |
OMIM:615424 |
| Epidermolysis Bullosa Acquisita |
|
Abnormal hair morphology, Hyperpigmentation of the skin, Nail dystrophy |
ORPHA:46487 |
| Acrokeratosis Verruciformis Of Hopf |
|
Leukonychia, Nail dystrophy, Anonychia, Punctate palmoplantar hyperkeratosis, Hyperkeratosis |
ORPHA:79151 |
| Immunodeficiency 19 |
|
Abnormal B cell morphology, T lymphocytopenia, Abnormal natural killer cell morphology |
OMIM:615617 |
| Dermatopathia Pigmentosa Reticularis |
|
Palmoplantar hyperkeratosis, Alopecia of scalp, Nail dystrophy, Reticular hyperpigmentation |
OMIM:125595 |
| Hypertrichosis, Congenital Generalized, 2 |
|
Hirsutism, Congenital, generalized hypertrichosis |
OMIM:307150 |
| Scapuloperoneal Syndrome, Neurogenic, Kaeser Type |
|
Rimmed vacuoles, Shoulder girdle muscle atrophy, Peroneal muscle atrophy, Z-band streaming, Foot ... |
OMIM:181400 |
| T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant |
|
Nail dystrophy |
OMIM:618806 |
| Pili Torti |
|
Alopecia, Hearing impairment, Abnormal eyebrow morphology, Pili torti, Brittle hair, Abnormality ... |
ORPHA:2889 |
| Björnstad Syndrome |
|
Hypogonadism, Sensorineural hearing impairment, Alopecia, Brittle hair |
ORPHA:123 |
| Dystrophic Epidermolysis Bullosa Pruriginosa |
|
Hyperkeratosis, Nail dystrophy, Abnormal toenail morphology |
ORPHA:89843 |
| T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Alopecia, Decreased lymphocyte proliferation in response to mitogen, Failure to thrive, Decreased... |
ORPHA:169154 |
| Flotch Syndrome |
|
Sparse eyelashes, Abnormal eyelid morphology, Inflammatory abnormality of the eye, Abnormal eyela... |
ORPHA:2045 |
| Basan Syndrome |
|
Hypermelanotic macule, Palmoplantar keratoderma, Nail dystrophy |
OMIM:129200 |
| Hair Defect With Photosensitivity And Impaired Intellectual Development |
|
Sparse eyebrow, Coarse hair, Sparse eyelashes, Brittle hair, Sparse hair, Cutaneous photosensitivity |
OMIM:234030 |
| Perifolliculitis Capitis Abscedens Et Suffodiens, Familial |
|
Alopecia, Alopecia of scalp |
OMIM:260910 |
| Dnajb6-Related Limb-Girdle Muscular Dystrophy D1 |
|
Rimmed vacuoles, Increased variability in muscle fiber diameter, Myofibrillar myopathy, Skeletal ... |
ORPHA:34516 |
| Gnathodiaphyseal Dysplasia |
|
Osteopenia, Recurrent fractures, Mandibular osteomyelitis, Thickened cortex of long bones |
ORPHA:53697 |
| T-Cell Immunodeficiency With Thymic Aplasia |
|
Abnormally low T cell receptor excision circle level, Lymphopenia, Hepatosplenomegaly, Aplasia of... |
OMIM:242700 |
| Immunodeficiency 105 |
|
Decreased circulating IgG level, Reduced natural killer cell count, Absence of lymph node germina... |
OMIM:619924 |
| Hypogonadotropic Hypogonadism 24 With Or Without Anosmia |
|
Hypogonadism, Decreased testicular size, Elevated circulating luteinizing hormone level, Decrease... |
OMIM:229070 |
| Combined Cellular And Humoral Immune Defects With Granulomas |
|
T lymphocytopenia, B lymphocytopenia |
OMIM:233650 |
| Immunodeficiency 103, Susceptibility To Fungal Infections |
|
Increased circulating IgE level, Hypereosinophilia, Abnormal B cell count, Abnormal proportion of... |
OMIM:212050 |
| Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Adrenal cortical sclerosis, Failure to thrive, Increased circulating IgE level, Lymphopenia, Decr... |
OMIM:102700 |
| Woolly Hair |
|
Sparse lateral eyebrow, Fine hair, Sparse body hair, Slow-growing hair, Brittle hair, Abnormality... |
ORPHA:170 |
| Limbal Stem Cell Deficiency |
|
Blepharospasm, Corneal perforation, Opacification of the corneal epithelium, Keratitis, Corneal s... |
ORPHA:171673 |
| Odontomicronychial Dysplasia |
|
Slow-growing nails, Short nail, Abnormality of the nail, Thin nail |
ORPHA:1811 |
| Hypogonadotropic Hypogonadism 8 With Or Without Anosmia |
|
Absence of pubertal development, Decreased testicular size, Cryptorchidism, Hypogonadotropic hypo... |
OMIM:614837 |
| Endosteal Hyperostosis, Worth Type |
|
Craniofacial hyperostosis, Generalized osteosclerosis, Abnormal cortical bone morphology, Clavicu... |
ORPHA:2790 |
| 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 |
|
Silver-gray hair, Hypopigmentation of the skin, Melanin pigment aggregation in hair shafts, Large... |
OMIM:214450 |
| Polyendocrine-Polyneuropathy Syndrome |
|
Central hypothyroidism, Decreased serum testosterone concentration, Decreased testicular size, Ty... |
ORPHA:453533 |
| Inclusion Body Myopathy And Brain White Matter Abnormalities |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Proxi... |
OMIM:619733 |
| Myopathy, Myofibrillar, 3 |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Dista... |
OMIM:609200 |
| Bdv Syndrome |
|
Central hypothyroidism, Decreased serum testosterone concentration, Hyperinsulinemia, Type II dia... |
OMIM:619326 |
| Hypophosphatemic Rickets, Autosomal Recessive, 1 |
|
Craniosynostosis, Hypophosphatemic rickets, Rickets, Increased bone mineral density |
OMIM:241520 |
| Tibial Muscular Dystrophy |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Proxi... |
ORPHA:609 |
| Keratoderma Hereditarium Mutilans With Ichthyosis |
|
Alopecia, Orthokeratosis, Palmoplantar keratoderma, Honeycomb palmoplantar hyperkeratosis, Nail d... |
ORPHA:79395 |
| Myopathy, Distal, 7, Adult-Onset, X-Linked |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Proxi... |
OMIM:301075 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10 |
|
Increased variability in muscle fiber diameter, Muscular dystrophy, Skeletal muscle atrophy, Fatt... |
OMIM:608807 |
| Deafness, Congenital, With Onychodystrophy, Autosomal Dominant |
|
Small nail, Absent toenail, Nail dystrophy, Absent fifth fingernail, Absent thumbnail |
OMIM:124480 |
| Immunodeficiency 15A |
|
Decreased proportion of CD8-positive T cells, Decreased proportion of memory B cells, Decreased p... |
OMIM:618204 |
| Hooft Disease |
|
Leukonychia |
OMIM:236300 |
| Cardiomyopathy, Dilated, 3B |
|
Increased variability in muscle fiber diameter |
OMIM:302045 |
| Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 9 |
|
Increased variability in muscle fiber diameter, Proximal muscle weakness in upper limbs, Proximal... |
OMIM:620402 |
| Clouston Syndrome |
|
Alopecia, Sparse eyebrow, Small nail, Fine hair, Alopecia totalis, Brittle hair, Nail dystrophy, ... |
OMIM:129500 |
| Autoimmune Lymphoproliferative Syndrome |
|
Reduced delayed hypersensitivity, Chronic noninfectious lymphadenopathy, Autoimmune hemolytic ane... |
OMIM:601859 |
| Adrenocortical Unresponsiveness To Acth With Postreceptor Defect |
|
Hyperpigmentation of the skin |
OMIM:202355 |
| Immunodeficiency 52 |
|
Increased proportion of gamma-delta T cells, Lymphopenia, Decreased circulating IgA level, Decrea... |
OMIM:617514 |
| Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A |
|
Increased variability in muscle fiber diameter, Increased endomysial connective tissue, Hip flexo... |
ORPHA:266 |
| Graham Little-Piccardi-Lassueur Syndrome |
|
Alopecia, Sparse axillary hair, Sparse pubic hair, Sparse scalp hair |
ORPHA:505 |
| Woolly Hair, Autosomal Recessive 3 |
|
Fine hair, Trichorrhexis nodosa, Sparse eyelashes, Curly hair, Sparse hair, Sparse scalp hair |
OMIM:616760 |
| Alopecia-Intellectual Disability-Hypergonadotropic Hypogonadism Syndrome |
|
Alopecia totalis |
ORPHA:1014 |
| Pachyonychia Congenita 1 |
|
Follicular hyperkeratosis, Palmoplantar hyperkeratosis, Nail dystrophy, Onychogryposis |
OMIM:167200 |
| Hypotrichosis 6 |
|
Erythema, Sparse eyebrow, Sparse eyelashes, Pili torti, Brittle hair, Sparse hair |
OMIM:607903 |
| Myopathy, Centronuclear, 6, With Fiber-Type Disproportion |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Ankle... |
OMIM:617760 |
| Self-Improving Dystrophic Epidermolysis Bullosa |
|
Anonychia, Nail dystrophy, Abnormality of the subungual region |
ORPHA:79411 |
| Ectodermal Dysplasia/Skin Fragility Syndrome |
|
Alopecia of scalp, Nail dystrophy, Absent eyelashes, Dystrophic fingernails, Absent eyebrow, Palm... |
OMIM:604536 |
| Kallmann Syndrome With Spastic Paraplegia |
|
Hypothalamic gonadotropin-releasing hormone deficiency, Cryptorchidism, Hypogonadotropic hypogona... |
OMIM:308750 |
| Keratosis Follicularis Spinulosa Decalvans, X-Linked |
|
Sparse eyebrow, Folliculitis, Keratitis, Blepharitis, Sparse eyelashes, Ectropion, Conjunctivitis... |
OMIM:308800 |
| Immunodeficiency With Hyper-Igm, Type 3 |
|
Decreased circulating IgG level, Impaired memory B cell generation, Absence of lymph node germina... |
OMIM:606843 |
| Monilethrix |
|
Fine hair, Abnormal eyebrow morphology, Patchy alopecia, Slow-growing hair, Brittle hair, Abnorma... |
ORPHA:573 |
| Spermatogenic Failure 2 |
|
Abnormal circulating luteinizing hormone concentration, Abnormal circulating testosterone concent... |
OMIM:108420 |
| Odontomicronychial Dysplasia |
|
Slow-growing nails, Short nail, Thin nail |
OMIM:601319 |
| Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant |
|
Decreased specific pneumococcal antibody level, Splenomegaly, Decreased circulating IgG2 level, D... |
OMIM:615513 |
| Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis |
|
Palmoplantar keratoderma, Leukonychia, Nail dystrophy, Parakeratosis, Woolly hair, Hyperkeratosis... |
OMIM:615821 |
| Spinal Muscular Atrophy, Infantile, James Type |
|
Increased variability in muscle fiber diameter, Distal amyotrophy, Lower limb muscle weakness, Ty... |
OMIM:619042 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2 |
|
Increased variability in muscle fiber diameter, Muscular dystrophy, Muscle fiber splitting, Skele... |
OMIM:253601 |
| Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias |
|
Decreased proportion of CD4+CD25+ regulatory T cells, Lymphopenia, Decreased circulating antibody... |
OMIM:619846 |
| Autosomal Recessive Palmoplantar Keratoderma And Congenital Alopecia |
|
Alopecia totalis, Palmoplantar keratoderma, Nail dystrophy |
ORPHA:1366 |
| Pili Torti-Onychodysplasia Syndrome |
|
Alopecia universalis, Alopecia, Sparse body hair, Congenital onychodystrophy, Dry skin, Nail dyst... |
ORPHA:2890 |
| Dyschromatosis Universalis Hereditaria |
|
Hypopigmented skin patches, Spotty hypopigmentation, Multiple cafe-au-lait spots, Freckling, Hype... |
ORPHA:241 |
| Albinism, Oculocutaneous, Type Iii |
|
Partial albinism, Albinism, Red hair |
OMIM:203290 |
| Olmsted Syndrome 1 |
|
Alopecia universalis, Subungual hyperkeratosis, Palmoplantar keratoderma, Orthokeratosis, Hyperpa... |
OMIM:614594 |
| Trichothiodystrophy 9, Nonphotosensitive |
|
Sparse hair, Sparse eyebrow, Tiger tail banding, Nail dystrophy |
OMIM:619692 |
| Trichothiodystrophy 7, Nonphotosensitive |
|
Tiger tail banding, Cutaneous photosensitivity, Brittle hair |
OMIM:618546 |
| Uncombable Hair Syndrome 3 |
|
Pili canaliculi, Brittle hair, Uncombable hair, Curly hair |
OMIM:617252 |
| Late-Onset Junctional Epidermolysis Bullosa |
|
Anonychia, Nail dystrophy |
ORPHA:79406 |
| Ectodermal Dysplasia 7, Hair/Nail Type |
|
Abnormal sweat gland morphology, Alopecia, Sparse eyebrow, Hair-nail ectodermal dysplasia, Dystro... |
OMIM:614929 |
| Osteoporosis |
|
Osteoporosis |
OMIM:166710 |
| Hypereosinophilic Syndrome, Idiopathic |
|
Hepatomegaly, Eosinophilia, Myeloproliferative disorder, Splenomegaly |
OMIM:607685 |
| Heimler Syndrome 2 |
|
Leukonychia, Beau's lines |
OMIM:616617 |
| Atrophoderma Vermiculata |
|
Leukonychia |
OMIM:209700 |
| Myopathy, Distal, Tateyama Type |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Hand ... |
OMIM:614321 |
| Mast Cell Sarcoma |
|
Mastocytosis, Splenomegaly, Weight loss, Lymphadenopathy, Hepatomegaly, Sarcoma, Mediastinal lymp... |
ORPHA:66661 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 15 |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Myopathy |
OMIM:618992 |
| Bazex Syndrome |
|
Yellow nails, Palmoplantar keratoderma, Lip hyperpigmentation, Nail dystrophy, Parakeratosis, Ane... |
ORPHA:166113 |
| Immunodeficiency 76 |
|
Lymphopenia, Splenomegaly, Lymphadenopathy, B lymphocytopenia, T lymphocytopenia |
OMIM:619164 |
| Immunodeficiency, Common Variable, 5 |
|
Abnormal T cell count, Abnormal B cell count |
OMIM:613495 |
| Muscular Dystrophy, Pseudohypertrophic, With Internalized Capillaries |
|
Central core regions in muscle fibers, Muscular dystrophy |
OMIM:159050 |
| Rhabdomyolysis, Susceptibility To, 1 |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Type ... |
OMIM:620235 |
| Hypotrichosis 7 |
|
Abnormal sweat gland morphology, Sparse eyebrow, Sparse body hair, Sparse eyelashes, Sparse axill... |
OMIM:604379 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8 |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Shoul... |
OMIM:254110 |
| Immunodeficiency 104 |
|
T lymphocytopenia, Splenomegaly, Lymphadenopathy |
OMIM:608971 |
| Osteosclerosis With Ichthyosis And Fractures |
|
Cortical thickening of long bone diaphyses, Increased bone mineral density, Recurrent fractures |
OMIM:166740 |
| Immunodeficiency 97 With Autoinflammation |
|
Hemophagocytosis, Decreased proportion of CD8-positive T cells, Lymphopenia, Hepatosplenomegaly, ... |
OMIM:619802 |
| Uterine Anomalies |
|
Bicornuate uterus, Abnormality of the uterus |
OMIM:192000 |
| Autosomal Dominant Keratitis |
|
Cataract, Microcornea, Keratitis, Abnormal corneal limbus morphology, Aniridia, Corneal neovascul... |
ORPHA:2334 |
| Immunodeficiency 30 |
|
Recurrent mycobacterial infections, Recurrent infections |
OMIM:614891 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3 |
|
Increased variability in muscle fiber diameter, Limb-girdle muscular dystrophy, Ankle flexion con... |
OMIM:608099 |
| Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency |
|
Increased variability in muscle fiber diameter, Muscular dystrophy, Skeletal muscle atrophy, Fatt... |
OMIM:613204 |
| Bjornstad Syndrome |
|
Hair shafts flattened at irregular intervals and twisted through 180 degrees about their axes, Al... |
OMIM:262000 |
| Osteopenia And Sparse Hair |
|
Osteopenia, Joint hypermobility |
OMIM:259690 |
| Distal Myopathy, Welander Type |
|
Rimmed vacuoles, Distal upper limb amyotrophy, Foot dorsiflexor weakness, Myopathy, Intrinsic han... |
ORPHA:603 |
| Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12 |
|
Increased variability in muscle fiber diameter, Limb-girdle muscular dystrophy, Proximal muscle w... |
ORPHA:206549 |
| Combined Immunodeficiency, X-Linked |
|
Abnormal T cell count, Decreased proportion of CD8-positive T cells, Decreased proportion of CD4-... |
OMIM:312863 |
| Anonychia-Onychodystrophy With Hypoplasia Or Absence Of Distal Phalanges |
|
Nail dysplasia, Anonychia, Nail dystrophy |
OMIM:106995 |
| Trim32-Related Limb-Girdle Muscular Dystrophy R8 |
|
Increased variability in muscle fiber diameter, Myopathy, Proximal muscle weakness in lower limbs |
ORPHA:1878 |
| Congenital Absence/Hypoplasia Of Fingers Excluding Thumb, Unilateral |
|
Short nail |
ORPHA:973 |
| Pparg-Related Familial Partial Lipodystrophy |
|
Insulin-resistant diabetes mellitus, Prominent veins on trunk, Atherosclerosis, Coronary artery a... |
ORPHA:79083 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4 |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Myopa... |
OMIM:618129 |
| Ichthyosis, Congenital, Autosomal Recessive 1 |
|
Alopecia, Nail dystrophy, Parakeratosis, Nail dysplasia, Palmoplantar hyperkeratosis, Sparse hair |
OMIM:242300 |
| Hypogonadotropic Hypogonadism 23 With Or Without Anosmia |
|
Male hypogonadism, Decreased circulating dihydrotestosterone concentration, Abnormality of the Le... |
OMIM:228300 |
| Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Acute monocytic leukemia, Congenital agranulocytosis, Thrombocytosis, Increased circulating antib... |
OMIM:202700 |
| Uv-Sensitive Syndrome 2 |
|
Freckling |
OMIM:614621 |
| Diamond-Blackfan Anemia 17 |
|
Hyperpigmentation of the skin |
OMIM:617409 |
| Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant |
|
Cataract, Sparse eyebrow, Folliculitis, Keratitis, Sparse eyelashes, Conjunctivitis, Blepharitis |
OMIM:612843 |
| Kimura Disease |
|
Increased circulating IgE level, Follicular hyperplasia, Eosinophilia, Lymphadenopathy, Abnormal ... |
ORPHA:482 |
| Pulmonary Nodular Lymphoid Hyperplasia |
|
Mediastinal lymphadenopathy, Follicular hyperplasia, Plasmacytosis |
ORPHA:60026 |
| Peeling Skin Syndrome 4 |
|
Orthokeratosis, Palmoplantar keratoderma, Nail dystrophy, Hyperkeratosis |
OMIM:607936 |
| Congenital Myopathy 1A, Autosomal Dominant, With Susceptibility To Malignant Hyperthermia |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Ankle... |
OMIM:117000 |
| Griscelli Syndrome Type 3 |
|
Partial albinism, Hypopigmentation of hair, Iris hypopigmentation |
ORPHA:79478 |
| Localized Dystrophic Epidermolysis Bullosa, Pretibial Form |
|
Hyperkeratotic papule, Small nail, Abnormal fingernail morphology, Nail dystrophy, Abnormal toena... |
ORPHA:79410 |
| Tibial Muscular Dystrophy, Tardive |
|
Rimmed vacuoles, Muscular dystrophy, Tibialis anterior muscle atrophy, Tibialis muscle weakness, ... |
OMIM:600334 |
| Epidermolysis Bullosa Simplex 5B, With Muscular Dystrophy |
|
Nail dystrophy, Nail dysplasia, Scarring alopecia of scalp, Palmoplantar hyperkeratosis, Anemia |
OMIM:226670 |
| Nemaline Myopathy 5B, Autosomal Recessive, Childhood-Onset |
|
Minicore myopathy, Increased variability in muscle fiber diameter, Nemaline bodies, Elbow contrac... |
OMIM:620386 |
| Ectodermal Dysplasia 12, Hypohidrotic/Hair/Tooth/Nail Type |
|
Subungual hyperkeratosis, Orthokeratosis, Sparse lateral eyebrow, Trichorrhexis nodosa, Nail dyst... |
OMIM:617337 |
| Myopathy, Scapulohumeroperoneal |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Nemal... |
OMIM:616852 |
| Neuropathy, Hereditary Sensory, Type Id |
|
Nail dystrophy |
OMIM:613708 |
| Cervical Hypertrichosis With Underlying Kyphoscoliosis |
|
Sacral hypertrichosis, Thoracic hypertrichosis, Lumbar hypertrichosis, Anterior cervical hypertri... |
OMIM:117850 |
| Mirror Polydactyly-Vertebral Segmentation-Limbs Defects Syndrome |
|
Aplasia of the thymus |
ORPHA:3004 |
| Trichodental Dysplasia |
|
Sparse hair, Slow-growing hair, Fine hair, Brittle hair |
OMIM:601453 |
| Gelatinous Drop-Like Corneal Dystrophy |
|
Blepharospasm, Conjunctival amyloidosis, Corneal neovascularization, Subepithelial corneal opacit... |
ORPHA:98957 |
| Ectodermal Dysplasia 8, Hair/Tooth/Nail Type |
|
Dystrophic toenail, Sparse or absent eyelashes, Dystrophic fingernails, Aplasia/Hypoplasia of the... |
OMIM:602401 |
| Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Decreased circulating IgG level, Abnormal T cell count, Decreased lymphocyte proliferation in res... |
ORPHA:331206 |
| Angioma, Tufted |
|
Abnormality of skin pigmentation |
OMIM:607859 |
| Ectodermal Dysplasia 13, Hair/Tooth Type |
|
Thin eyebrow, Sparse eyelashes, Low anterior hairline, Ectodermal dysplasia, Brittle hair |
OMIM:617392 |
| Poikiloderma With Neutropenia |
|
Sparse eyebrow, Recurrent pneumonia, Sparse lateral eyebrow, Recurrent otitis media, Nail dystrop... |
OMIM:604173 |
| Junctional Epidermolysis Bullosa Inversa |
|
Anonychia, Nail dystrophy |
ORPHA:79405 |
| Inclusion Body Myositis |
|
Rimmed vacuoles, Inflammatory myopathy |
OMIM:147421 |
| Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu... |
OMIM:612999 |
| Immunodeficiency 18 |
|
Reduced natural killer cell count, Lymphopenia, Abnormal B cell count, Decreased proportion of CD... |
OMIM:615615 |
| Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Hepatomegaly, Reduced delayed hypersensitivity, Chronic noninfectious lymphadenopathy, Autoimmune... |
OMIM:603909 |
| Palmoplantar Keratoderma And Congenital Alopecia 1 |
|
Alopecia, Sparse eyebrow, Palmoplantar keratoderma, Leukonychia, Nail dysplasia, Hyperpigmentatio... |
OMIM:104100 |
| Isolated Anencephaly |
|
Adrenal hypoplasia, Thymus hyperplasia, Maternal diabetes |
ORPHA:563609 |
| Pachyonychia Congenita |
|
Onychogryposis of fingernail, Alopecia, Palmoplantar keratoderma, Onychogryposis of toenails, Fin... |
ORPHA:2309 |
| Hypogonadotropic Hypogonadism 1 With Or Without Anosmia |
|
Decreased serum testosterone concentration, Decreased testicular size, Hypothalamic gonadotropin-... |
OMIM:308700 |
| Purine Nucleoside Phosphorylase Deficiency |
|
Decreased lymphocyte proliferation in response to mitogen, Failure to thrive, Lymphoma, Impaired ... |
OMIM:613179 |
| Sclerosteosis |
|
Craniofacial hyperostosis, Abnormal cortical bone morphology, Increased bone mineral density |
ORPHA:3152 |
| Progeroid Syndrome, Petty Type |
|
Abnormal hair morphology, Low-set, posteriorly rotated ears, Prematurely aged appearance, Thick e... |
ORPHA:2963 |
| Parana Hard Skin Syndrome |
|
Generalized hirsutism, Generalized hyperpigmentation, Hyperkeratosis |
ORPHA:2812 |
| Trichothiodystrophy 5, Nonphotosensitive |
|
Sparse eyebrow, Progeroid facial appearance, Reduced hair sulfur content, Decreased testicular si... |
OMIM:300953 |
| Ectodermal Dysplasia/Short Stature Syndrome |
|
Anonychia, Palmoplantar keratoderma, Nail dystrophy, Hyperkeratosis |
OMIM:616029 |
| Anterior Segment Dysgenesis 6 |
|
Posterior synechiae of the anterior chamber, Abnormal Descemet membrane morphology, Corneal neova... |
OMIM:617315 |
| Osteopetrosis, Autosomal Dominant 1 |
|
Thickened cortex of long bones, Generalized osteosclerosis, Osteopetrosis, Calvarial osteoscleros... |
OMIM:607634 |
| Bart-Pumphrey Syndrome |
|
Leukonychia |
OMIM:149200 |
| Huriez Syndrome |
|
Small nail, Congenital palmoplantar hyperkeratosis, Nail dystrophy |
OMIM:181600 |
| Myofibrillar Myopathy 11 |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Shoul... |
OMIM:619178 |
| Uncombable Hair Syndrome |
|
Coarse hair, White hair, Abnormal hair morphology, Patchy alopecia, Trichodysplasia, Woolly hair |
ORPHA:1410 |
| Lichen Planus Pemphigoides |
|
Conjunctivitis, Blepharitis |
ORPHA:254478 |
| Lelis Syndrome |
|
Yellow nails, Sparse lateral eyebrow, Vitiligo, Perioral hyperpigmentation, Nail dystrophy, Abnor... |
ORPHA:140936 |
| Lymphoproliferative Syndrome 3 |
|
Reduced natural killer cell count, Partial absence of specific antibody response to tetanus vacci... |
OMIM:618261 |
| Myopathy, Myofibrillar, 5 |
|
Myofibrillar myopathy, Muscle fiber cytoplasmatic inclusion bodies, Muscle fiber splitting |
OMIM:609524 |
| Palmoplantar Keratoderma And Woolly Hair |
|
Sparse eyebrow, Palmoplantar keratoderma, Sparse body hair, Leukonychia, Sparse eyelashes, Woolly... |
OMIM:616099 |
| Neutrophilia, Hereditary |
|
Myelodysplasia, Splenomegaly, Neutrophilia |
OMIM:162830 |
| Familial Partial Lipodystrophy, Dunnigan Type |
|
Abnormality of the nail, Atherosclerosis, Splenomegaly, Hepatic steatosis, Polycystic ovaries, Ge... |
ORPHA:2348 |
| Erythrokeratodermia Variabilis Et Progressiva 7 |
|
Woolly hair, Dystrophic toenail |
OMIM:619209 |
| Spermatogenic Failure 13 |
|
Abnormal circulating luteinizing hormone concentration, Abnormal circulating testosterone concent... |
OMIM:615841 |
| Lymphoproliferative Syndrome 2 |
|
Recurrent pneumonia, Sepsis, Severe varicella zoster infection, Lymphoma, Ascites, Lymphoprolifer... |
OMIM:615122 |
| Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia |
|
Abnormally low T cell receptor excision circle level, Decreased circulating IgG level, Cervical l... |
OMIM:618987 |
| Immunodeficiency 7 |
|
Failure to thrive, Hypereosinophilia, Splenomegaly, Autoimmune hemolytic anemia, Patchy alopecia,... |
OMIM:615387 |
| Congenital Disorder Of Glycosylation, Type I/Iix |
|
Abnormality of skin pigmentation |
OMIM:212067 |
| Pachyonychia Congenita 2 |
|
Sparse eyebrow, Dry hair, Subungual hyperkeratosis, Nail dystrophy, Nail dysplasia, Palmoplantar ... |
OMIM:167210 |
| Trichothiodystrophy 6, Nonphotosensitive |
|
Dry skin, Tiger tail banding, Slow-growing hair, Brittle hair, Increased HbA2 hemoglobin, Decreas... |
OMIM:616943 |
| Facioscapulohumeral Muscular Dystrophy 3, Digenic |
|
Scapular winging, Weakness of facial musculature, Angulated muscle fibers, Shoulder girdle muscle... |
OMIM:619477 |
| Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant |
|
Increased variability in muscle fiber diameter, Muscular dystrophy, Proximal amyotrophy, Skeletal... |
OMIM:614302 |
| Caspase 8 Deficiency |
|
Decreased circulating IgG level, Decreased CD4:CD8 ratio, Decreased circulating IgA level, Spleno... |
OMIM:607271 |
| Osteochondrosis Of The Metatarsal Bone |
|
Joint stiffness, Thickened cortex of bones, Arthritis, Sclerosis of foot bone |
ORPHA:564003 |
| Immunodeficiency 32B |
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Failure to thrive, Impaired oxidative burst, Abnormal circulating IgG level, Splenomegaly, Hepato... |
OMIM:226990 |
| Non-Acquired Isolated Growth Hormone Deficiency |
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Premature skin wrinkling, Delayed puberty, Prolonged neonatal jaundice, Sparse hair, Anterior hyp... |
ORPHA:631 |
| Myopathy, Autophagic Vacuolar, Infantile-Onset |
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Autophagic vacuoles, Myopathy |
OMIM:609500 |
| Cernunnos-Xlf Deficiency |
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Lymphopenia, Thrombocytopenia, B lymphocytopenia, Anemia, T lymphocytopenia |
ORPHA:169079 |
| Ectodermal Dysplasia-Sensorineural Deafness Syndrome |
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Coarse hair, Hidrotic ectodermal dysplasia, Sensorineural hearing impairment, Brittle hair, Spars... |
ORPHA:1883 |
| Body Mass Index Quantitative Trait Locus 20 |
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Increased bone mineral density |
OMIM:618406 |
| T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta |
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Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mitogen, Hepat... |
ORPHA:169160 |
| Waardenburg Syndrome, Type 2F |
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Hypopigmentation of the skin, White hair, Premature graying of hair, White forelock, Heterochromi... |
OMIM:619947 |
| Immunodeficiency 50 |
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Lymphopenia, Decreased circulating antibody level, Neutropenia |
OMIM:300988 |
| Trichodentoosseous Syndrome |
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Increased bone mineral density |
OMIM:190320 |
| Omenn Syndrome |
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Alopecia, Failure to thrive, Lymphoma, Abnormal lymphocyte morphology, Leukocytosis, Splenomegaly... |
ORPHA:39041 |
| Marie Unna Hereditary Hypotrichosis |
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Alopecia, Coarse hair, Sparse or absent eyelashes, Aplasia/Hypoplasia of the eyebrow, Sparse scal... |
ORPHA:444 |
| Uncombable Hair Syndrome 2 |
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Pili canaliculi, Uncombable hair |
OMIM:617251 |
| Bathing Suit Ichthyosis |
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Alopecia, Nail dystrophy, Parakeratosis, Palmoplantar hyperkeratosis, Sparse hair |
ORPHA:100976 |
| Acute Myelomonocytic Leukemia |
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Leukocytosis, Eosinophilia, Weight loss, Thrombocytopenia, Anemia |
ORPHA:517 |
| Myeloproliferative Disorder, Chronic, With Eosinophilia |
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Eosinophilia, Myeloproliferative disorder, Malignant eosinophil proliferation |
OMIM:131440 |
| Immunodeficiency 112 |
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Reduced natural killer cell count, Increased T cell count, Decreased proportion of class-switched... |
OMIM:620449 |
| Hepatic Venoocclusive Disease With Immunodeficiency |
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Decreased circulating IgG level, Absence of lymph node germinal center |
OMIM:235550 |
| Alpha-B Crystallin-Related Late-Onset Myopathy |
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Increased variability in muscle fiber diameter, Muscle fiber inclusion bodies, Accumulation of mu... |
ORPHA:399058 |
| Mantle Cell Lymphoma |
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B-cell lymphoma, Weight loss, Splenomegaly, Lymphadenopathy |
ORPHA:52416 |
| Distal Myopathy, Tateyama Type |
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Calf muscle hypoplasia, Increased variability in muscle fiber diameter, Abnormal muscle fiber pro... |
ORPHA:488650 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27 |
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Increased variability in muscle fiber diameter, Proximal muscle weakness in upper limbs, Muscular... |
OMIM:619566 |
| Osteopetrosis, Autosomal Recessive 6 |
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Osteopetrosis |
OMIM:611497 |
| Myopathy, Tubular Aggregate, 1 |
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Increased variability in muscle fiber diameter, Type 1 muscle fiber predominance, Myopathy, Weakn... |
OMIM:160565 |
| Ifap Syndrome 2 |
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Cataract, Posterior blepharitis, Keratitis, Angular cheilitis, Keratoconjunctivitis sicca |
OMIM:619016 |
| Olmsted Syndrome, X-Linked |
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Posterior blepharitis, Blepharitis |
OMIM:300918 |
| Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance |
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Proximal muscle weakness in lower limbs, Proximal muscle weakness in upper limbs, Ragged-red musc... |
ORPHA:457050 |
| Immunodeficiency 64 With Lymphoproliferation |
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Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased circulating IgG level... |
OMIM:618534 |
| Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4 |
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Abnormal B cell morphology |
OMIM:616911 |
| Cerebellar Dysfunction, Impaired Intellectual Development, And Hypogonadotropic Hypogonadism |
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Cryptorchidism, Hypogonadotropic hypogonadism, Delayed puberty, Decreased circulating luteinizing... |
OMIM:619761 |
| Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
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Type I diabetes mellitus, Alopecia, Hepatitis, Failure to thrive, Increased circulating IgE level... |
OMIM:304790 |
| Congenital Myopathy 18 |
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Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Fatty... |
OMIM:620246 |
| T-Cell Immunodeficiency With Thymic Aplasia |
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Decreased lymphocyte proliferation in response to mitogen, Failure to thrive, Decreased proportio... |
ORPHA:83471 |
| Trichothiodystrophy 4, Nonphotosensitive |
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Sparse hair, Optic atrophy, Small nail, Trichorrhexis nodosa, Decreased fertility, Nail dystrophy... |
OMIM:234050 |
| Ghosal Hematodiaphyseal Dysplasia |
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Craniofacial hyperostosis, Abnormal cortical bone morphology |
ORPHA:1802 |
| Cardiomyopathy, Dilated, 1X |
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Increased variability in muscle fiber diameter, Calf muscle hypertrophy |
OMIM:611615 |
| B-Cell Expansion With Nfkb And T-Cell Anergy |
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Increased B cell count, Splenomegaly |
OMIM:616452 |
| Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome |
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Craniosynostosis, Increased bone mineral density |
ORPHA:178377 |
| Myopathy, X-Linked, With Postural Muscle Atrophy |
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Rimmed vacuoles, Increased variability in muscle fiber diameter, Skeletal muscle atrophy, Hamstri... |
OMIM:300696 |
| Immunodeficiency 72 With Autoinflammation And Lymphoproliferation |
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Increased B cell count, Hepatosplenomegaly, Lymphadenopathy, Increased proportion of memory T cells |
OMIM:618982 |
| Chondroectodermal Dysplasia With Night Blindness |
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Hyperconvex toenail, Abnormal hair morphology, Congenital onychodystrophy, Hyperconvex fingernail... |
ORPHA:319195 |
| Isolated Osteopoikilosis |
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Sclerotic foci within carpal bones, Tarsal sclerosis, Limitation of joint mobility, Abnormal pelv... |
ORPHA:166119 |
| Caffey Disease |
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Cortical irregularity, Periosteal thickening of long tubular bones, Joint hypermobility, Subperio... |
OMIM:114000 |
| Hypotrichosis With Juvenile Macular Degeneration |
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Sparse scalp hair, Pili torti, Fine hair, Brittle hair |
ORPHA:1573 |
| Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia |
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Decreased specific anti-polysaccharide antibody level, Decreased CD4:CD8 ratio, Decreased proport... |
OMIM:300853 |
| Spermatogenic Failure 14 |
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Abnormal circulating luteinizing hormone concentration, Abnormal circulating testosterone concent... |
OMIM:615842 |
| Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type |
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Increased bone mineral density, Abnormal cortical bone morphology |
ORPHA:2204 |
| Combined Immunodeficiency Due To Zap70 Deficiency |
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Decreased lymphocyte proliferation in response to mitogen, Lymphadenitis, Failure to thrive, Lymp... |
ORPHA:911 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5 |
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Increased variability in muscle fiber diameter, Muscular dystrophy, Muscle fiber splitting, Skele... |
OMIM:253700 |
| Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis |
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Psoriasiform dermatitis, Blepharitis, Developmental cataract |
OMIM:616834 |
| Hypogonadotropic Hypogonadism 19 With Or Without Anosmia |
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Osteoporosis, Osteopenia |
OMIM:615269 |
| Sézary Syndrome |
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Alopecia, Irregular hyperpigmentation, Palmoplantar keratoderma, Abnormal lymphocyte morphology, ... |
ORPHA:3162 |
| Myasthenic Syndrome, Congenital, 2A, Slow-Channel |
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Increased variability in muscle fiber diameter, Skeletal muscle atrophy, Limb muscle weakness, Ty... |
OMIM:616313 |
| Localized Junctional Epidermolysis Bullosa |
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Sparse pubic hair, Dystrophic toenail, Atrophic, patchy alopecia, Nail dystrophy, Sparse axillary... |
ORPHA:251393 |
| Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma |
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Alopecia, Palmoplantar keratoderma, Alopecia of scalp, Nail dystrophy, Hypomelanotic macule, Mult... |
OMIM:618373 |
| Severe Combined Immunodeficiency, X-Linked |
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Decreased circulating IgG level, Failure to thrive, Reduced natural killer cell activity, Decreas... |
OMIM:300400 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2Cc |
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Rimmed vacuoles, Increased variability in muscle fiber diameter, Upper limb muscle weakness, Lowe... |
OMIM:616924 |
| Alpha-Heavy Chain Disease |
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Alopecia, Lymphoma, Ascites, Hypocalcemia, Splenomegaly, Dysgammaglobulinemia, Hepatomegaly |
ORPHA:100025 |
| Cronkhite-Canada Syndrome |
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Alopecia, Gastrointestinal carcinoma, Dystrophic toenail, Sparse body hair, Abnormal fingernail m... |
ORPHA:2930 |
| Pili Torti-Developmental Delay-Neurological Abnormalities Syndrome |
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Abnormality of hair texture, Sparse or absent eyelashes, Pili torti, Aplasia/Hypoplasia of the ey... |
ORPHA:2891 |
| Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma |
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Alopecia, Sparse eyebrow, Palmoplantar keratoderma, Nail dystrophy, Sparse eyelashes, Palmoplanta... |
OMIM:605676 |
| Immunodeficiency 13 |
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Lymphopenia, Decreased CD4:CD8 ratio, Decreased proportion of CD4-positive helper T cells, B lymp... |
OMIM:615518 |
| Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset |
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Increased variability in muscle fiber diameter, Flexion contracture, Muscle fiber intracytoplasmi... |
OMIM:300717 |
| Immunodeficiency 8 With Lymphoproliferation |
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Lymphopenia, Complete or near-complete absence of specific antibody response to tetanus vaccine, ... |
OMIM:615401 |
| Xeroderma Pigmentosum, Complementation Group D |
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Cataract, Keratitis, Corneal neovascularization, Telangiectasia, Keratoconjunctivitis sicca, Entr... |
OMIM:278730 |
| Flynn-Aird Syndrome |
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Osteoporosis, Joint stiffness, Increased bone density with cystic changes, Increased bone mineral... |
OMIM:136300 |
| Agammaglobulinemia, X-Linked |
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Decreased circulating IgG level, Decreased circulating IgE, Decreased circulating IgA level, Lymp... |
OMIM:300755 |
| Ichthyosis, Congenital, Autosomal Recessive 11 |
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Sparse eyebrow, Sparse body hair, Curly eyelashes, Curly hair, Sparse eyelashes, Pili torti, Brit... |
OMIM:602400 |
| Split-Hand/Foot Malformation 3 |
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Nail dysplasia, Ridged nail, Nail dystrophy |
OMIM:246560 |
| Autoimmune Lymphoproliferative Syndrome |
|
Neoplasm of the skin, Increased circulating IgE level, Lymphopenia, Hypersplenism, Decreased prop... |
ORPHA:3261 |
| 46,Xy Sex Reversal 5 |
|
Abnormal circulating luteinizing hormone concentration, Elevated circulating follicle stimulating... |
OMIM:613080 |
| Myasthenic Syndrome, Congenital, 14 |
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Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Type ... |
OMIM:616228 |
| Congenital Myopathy 8 |
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Increased variability in muscle fiber diameter, Muscle fiber atrophy, Type 1 muscle fiber predomi... |
OMIM:618654 |
| Naegeli-Franceschetti-Jadassohn Syndrome |
|
Subungual hyperkeratosis, Hypopigmentation of the skin, Dystrophic toenail, Decreased number of s... |
ORPHA:69087 |
| Peeling Skin Syndrome 1 |
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Nail dystrophy, Eosinophilia, Onycholysis, Scaling skin, Brittle hair |
OMIM:270300 |
| Wiskott-Aldrich Syndrome 2 |
|
Decreased proportion of CD8-positive T cells, Thrombocytopenia |
OMIM:614493 |
| Melorheostosis |
|
Joint stiffness, Ectopic ossification in muscle tissue, Hyperostosis, Arthritis, Increased bone m... |
ORPHA:2485 |
| Miyoshi Muscular Dystrophy 1 |
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Deposits immunoreactive to beta-amyloid protein, Muscular dystrophy, Distal amyotrophy, Lower lim... |
OMIM:254130 |
| Heimler Syndrome 1 |
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Leukonychia, Beau's lines |
OMIM:234580 |
| Desmoplastic Small Round Cell Tumor |
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Hepatomegaly, Cachexia, Weight loss, Lymphadenopathy, Testicular neoplasm, Abnormal peritoneum mo... |
ORPHA:83469 |
| Transgrediens Et Progrediens Palmoplantar Keratoderma |
|
Dystrophic toenail, Diffuse palmoplantar hyperkeratosis, Dystrophic fingernails, Palmar hyperkera... |
ORPHA:495 |
| Myopathy, Myofibrillar, 9, With Early Respiratory Failure |
|
Rimmed vacuoles, Increased variability in muscle fiber diameter, Quadriceps muscle weakness, Shou... |
OMIM:603689 |
| Immunodeficiency 48 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Abnormal B cell count, Splenomegaly, ... |
OMIM:269840 |
| Bullous Dystrophy, Hereditary Macular Type |
|
Alopecia totalis, Hyperpigmentation of the skin, Abnormality of the nail |
OMIM:302000 |
| Spermatogenic Failure 77 |
|
Abnormal circulating luteinizing hormone concentration, Abnormal circulating testosterone concent... |
OMIM:620103 |
| Hyperpigmentation With Or Without Hypopigmentation, Familial Progressive |
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Hypopigmented skin patches, Multiple lentigines, Progressive hyperpigmentation, Vitiligo, Hyperme... |
OMIM:145250 |
| Oculopharyngeal Muscular Dystrophy |
|
Rimmed vacuoles, Ragged-red muscle fibers, Myopathy, Abnormal muscle fiber morphology |
